Ann Nordgren

Om mig
Publikationer
Forskningsbidrag
CV
Populärvetenskap och samverkan

Om mig

Adjungerad professor
*Adjungerad professor i klinisk genetik*
Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för
molekylär medicin och kirurgi [1]
[1] https://ki.se/mmk/sallsynta-diagnoser

Artiklar

Article: NATURE GENETICS. 2024;:2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Bilgrav Saether K; Höijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjö A; Hammond CK; Hatirnaz Ng Ö; Hesketh S; Hettiarachchi D; Johansson Soller M; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Lysenkova Wiklander M; Makay P; Maiga AB; Maya-González C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjö S; Ottosson J; Ozbek U; Özdemir Ö; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; Posada de la Paz M; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tümer Z; van Zelst-Stams WAG; Verloes A; Västerviga E; Wang S; Yang R; Yamamoto S; Yépez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
Journal article: COGNITIVE SYSTEMS RESEARCH. 2024;86:101235
Survival games for humans and machines
Strannegard C; Engsner N; Ulfsbacker S; Andreasson S; Endler J; Nordgren A
Article: THE LANCET REGIONAL HEALTH. EUROPE. 2024;39:100881
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study
Tesi B; Robinson KL; Abel F; Stahl TDD; Orrsjoe S; Poluha A; Hellberg M; Wessman S; Samuelsson S; Frisk T; Vogt H; Henning K; Sabel M; Ek T; Pal N; Nyman P; Giraud G; Wille J; Pronk CJ; Noren-Nystroem U; Borssen M; Fili M; Stalhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebaeck P; Kogner P; Smoler GK; Laehteenmaeki P; Fransso S; Martinsson T; Shamik A; Mertens F; Rosenquist R; Wirta V; Tham E; Grillner P; Sandgren J; Ljungman G; Gisselsson D; Taylan F; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(3):333-341
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson J; Lideus S; Frykholm C; Gunnarsson C; Mihalic F; Gudmundsson S; Ekvall S; Molin A-M; Pham M; Vihinen M; Lagerstedt-Robinson K; Nordgren A; Jemth P; Ameur A; Anneren G; Wilbe M; Bondeson M-L
Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
Pechhacker MKG; Molnar A; Pekkola Pacheco N; Thonberg H; Querat L; Birkeldh U; Nordgren A; Lindstrand A
Article: NPJ PRECISION ONCOLOGY. 2023;7(1):131
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
Krali O; Marincevic-Zuniga Y; Arvidsson G; Enblad AP; Lundmark A; Sayyab S; Zachariadis V; Heinaniemi M; Suhonen J; Oksa L; Vepsaelaeinen K; Ofverholm I; Barbany G; Nordgren A; Lilljebjorn H; Fioretos T; Madsen HO; Marquart HV; Flaegstad T; Forestier E; Jonsson OG; Kanerva J; Lohi O; Noren-Nystrom U; Schmiegelow K; Harila A; Heyman M; Lonnerholm G; Syvanen A-C; Nordlund J
Article: NPJ GENOMIC MEDICINE. 2023;8(1):39
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Jacob P; Lindelof H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjo A; Bhavani GS; Batkovskyte D; Tveten K; Dalal A; Horemuzova E; Nordgren A; Tham E; Shah H; Merckoll E; Orellana L; Nishimura G; Girisha KM; Grigelioniene G
Article: SCIENTIFIC REPORTS. 2023;13(1):18397
No transfer of arousal from other's eyes in Williams syndrome
Kleberg JL; Hallman AEZ; Galazka MA; Riby DM; Bolte S; Willfors C; Fawcett C; Nordgren A
Article: SCIENTIFIC REPORTS. 2023;13(1):15858
Reduced effects of social feedback on learning in Turner syndrome
Avdic HB; Strannegard C; Engberg H; Willfors C; Nordgren I; Frisen L; Hirschberg AL; Guath M; Nordgren A; Kleberg JL
Article: GENETICS IN MEDICINE. 2023;25(8):100856
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Caron V; Chassaing N; Ragge N; Boschann F; Ngu AM-H; Meloche E; Chor S; Lakhani SA; Ji W; Steiner L; Marcadier J; Jansen PR; van de Pol LA; van Hagen JM; Russi AS; Le Guyader G; Nordenskjold M; Nordgren A; Anderlid B-M; Plaisancie J; Stoltenburg C; Horn D; Drenckhahn A; Hamdan FF; Lefebvre M; Attie-Bitach T; Forey P; Smirnov V; Ernould F; Jacquemont M-L; Grotto S; Alcantud A; Coret A; Ferrer-Avargues R; Srivastava S; Vincent-Delorme C; Romoser S; Safina N; Saade D; Lupski JR; Calame DG; Genevieve D; Chatron N; Schluth-Bolard C; Myers KA; Dobyns WB; Calvas P; Salmon C; Holt R; Elmslie F; Allaire M; Prigozhin DM; Tremblay A; Michaud JL
Article: JAMA NETWORK OPEN. 2023;6(7):e2325482
Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
Kampitsi C-E; Nordgren A; Mogensen H; Ponten E; Feychting M; Tettamanti G
Article: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS. 2023;53(7):2786-2797
Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype
Kleberg JL; Riby D; Fawcett C; Bjorlin Avdic H; Frick MA; Brocki KC; Hogstrom J; Serlachius E; Nordgren A; Willfors C
Article: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
Precision medicine and rare diseases in pediatric urology
Nordgren A; Lindstrand A; Wu H-Y; Fossum M
Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
Wadensten E; Wessman S; Abel F; De Stahl TD; Tesi B; Pietras CO; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjo S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Bontell TO; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nister M; Mertens F; Sabel M; Noren-Nystrom U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D
Article: COGNITIVE NEUROPSYCHIATRY. 2023;28(3):207-225
Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD
Avdic HB; Kleberg JL; van der Poll M; Frisen L; Hutley M; Sarjanen M; Nordgren I; Ekholm K; Hirschberg AL; Nordgren A; Willfors C
Article: SCIENTIFIC REPORTS. 2023;13(1):6904
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Runheim H; Pettersson M; Hammarsjo A; Nordgren A; Henriksson M; Lindstrand A; Levin L-A; Soller MJ
Journal article: JU OPEN PLUS. 2023;1(3)
Urinary Bladder Cancer in Bladder Exstrophy and Epispadias Complex: A Swedish Register Study and a Systematic Review of the Literature
Arkani S; Skarin Nordenvall A; Renström Koskela L; Reinfeldt Engberg G; Nordgren A; Nordenskjöld A
Article: JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY. 2023;29(3):306-315
Pupillary response in reward processing in adults with major depressive disorder in remission
Guath M; Willfors C; Avdic HB; Nordgren A; Kleberg JL
Journal article: PATHOLOGY. 2023;55:s19-s20
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: SCIENTIFIC REPORTS. 2023;13(1):164
Social feedback enhances learning in Williams syndrome
Kleberg JL; Willfors C; Avdic HB; Riby D; Galazka MA; Guath M; Nordgren A; Strannegard C
Article: FRONTIERS IN MEDICINE. 2023;10:1172565
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
Maya-Gonzalez C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergardh R; De Stahl TD; Hoybye C; Tettamanti G; Delgado-Vega AM; Skarin Nordenvall A; Nordgren A
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: BLOOD ADVANCES. 2022;6(7):2275-2289
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
Bang B; Eisfeldt J; Barbany G; Harila-Saari A; Heyman M; Zachariadis V; Taylan F; Nordgren A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: NPJ GENOMIC MEDICINE. 2022;7(1):11
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Zhao S; Zhang Y; Hallgrimsdottir S; Zuo Y; Li X; Batkovskyte D; Liu S; Lindelof H; Wang S; Hammarsjo A; Yang Y; Ye Y; Wang L; Yan Z; Lin J; Yu C; Chen Z; Niu Y; Wang H; Zhao Z; Liu P; Qiu G; Posey JE; Wu Z; Lupski JR; Micule I; Anderlid B-M; Voss U; Sulander D; Kuchinskaya E; Nordgren A; Nilsson O; Zhang TJ; Grigelioniene G; Wu N
Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1
Ponten E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
de Boer E; Yaldiz B; Denommé-Pichon A-S; Matalonga L; Laurie S; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908
Case Report: Inversion of LMX1B-A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Lindelof H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjo A
Article: FRONTIERS IN MOLECULAR NEUROSCIENCE. 2022;15:988993
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
Schuster J; Klar J; Khalfallah A; Laan L; Hoeber J; Fatima A; Sequeira VM; Jin Z; Korol SV; Huss M; Nordgren A; Anderlid BM; Gallant C; Birnir B; Dahl N
Article: JOURNAL OF PEDIATRICS. 2021;239:200-205.e2
Birth Characteristics Among Children Diagnosed with Neurofibromatosis Type 1 and Tuberous Sclerosis
Tettamanti G; Mogensen H; Kampitsi C-E; Nordgren A; Feychting M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2021;16(1):472
Williams syndrome: on the role of intellectual abilities in anxiety
Willfors C; Riby DM; van der Poll M; Ekholm K; Bjorlin HA; Kleberg JL; Nordgren A
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
de Boer E; Ockeloen CW; Matalonga L; Horvath R; Rodenburg RJ; Coenen MJH; Janssen M; Henssen D; Gilissen C; Steyaert W; Paramonov I; Trimouille A; Kleefstra T; Verloes A; Vissers LELM
Article: LAKARTIDNINGEN. 2021;118:21015
[The utility of whole genome sequencing in rare disease diagnostics].
Johansson Soller M; Nordgren A; Ehrencrona H; Lovmar L; Wedell A; Lindstrand A
Article: GENOME MEDICINE. 2021;13(1):63
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2021;185(2):517-527
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Botto LD; Meeths M; Campos-Xavier B; Bergamaschi R; Mazzanti L; Scarano E; Finocchi A; Cancrini C; Zirn B; Kuehnle I; Kramm CM; Alanay Y; Jones WD; Irving M; Sabir A; Henter J-I; Borgstrom B; Nordgren A; Hammarsjo A; Putti C; Mozzato C; Zuccarello D; Nishimura G; Bonafe L; Grigelioniene G; Unger S; Superti-Furga A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Article: NEUROLOGY: GENETICS. 2020;6(6):e526
Heterozygous variants in DCC: Beyond congenital mirror movements
Thams S; Islam M; Lindefeldt M; Nordgren A; Granberg T; Tesi B; Barbany G; Nilsson D; Paucar M
Article: NATURE COMMUNICATIONS. 2020;11(1):4932
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Dalla Bernardina B; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2020;117(33):20127-20138
Modeling SHH-driven medulloblastoma with patient iPS cell-derived neural stem cells
Susanto E; Navarro AM; Zhou L; Sundstrom A; van Bree N; Stantic M; Moslem M; Tailor J; Rietdijk J; Zubillaga V; Huebner J-M; Weishaupt H; Wolfsberger J; Alafuzoff I; Nordgren A; Magnaldo T; Siesjo P; Johnsen JI; Kool M; Tammimies K; Darabi A; Swartling FJ; Falk A; Wilhelm M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2020;182(5):1177-1189
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
Myers L; Anderlid B-M; Nordgren A; Lundin K; Kuja-Halkola R; Tammimies K; Bolte S
Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):103
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Smith M; Alexander E; Marcinkute R; Dan D; Rawson M; Banka S; Gavin J; Mina H; Hennessy C; Riccardi F; Radio FC; Havlovicova M; Cassina M; Chirita-Emandi A; Fradin M; Gompertz L; Nordgren A; Traberg R; Rossi M; Trimouille A; Sowmyalakshmi R; Dallapiccola B; Renieri A; Faivre L; Kerr B; Verloes A; Clayton-Smith J; Douzgou S
Article: CELL DEATH AND DISEASE. 2020;11(4):238
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome
Bergstrand S; Bohm S; Malmgren H; Norberg A; Sundin M; Nordgren A; Farnebo M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):80
Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
Andersson K; Malmgren B; Astrom E; Nordgren A; Taylan F; Dahllof G
Article: LEUKEMIA AND LYMPHOMA. 2020;61(3):604-613
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia
Ivanov Ofverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Anh NT; Saft L; Nilsson D; Syvanen A-C; Lonnerholm G; Harila-Saari A; Nordenskjold M; Heyman M; Nordgren A; Nordlund J; Barbany G
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations
Winberg J; Gustavsson P; Sahlin E; Larsson M; Ehren H; Fossum M; Wester T; Nordgren A; Nordenskjold A
Article: CELL DEATH AND DISEASE. 2020;11(1):52
p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids
Navarro AM; Pronk RJ; van der Geest AT; Oliynyk G; Nordgren A; Arsenian-Henriksson M; Falk A; Wilhelm M
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(1):e1013
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Myers L; Blyth M; Moradkhani K; Hranilovic D; Polesie S; Isaksson J; Nordgren A; Bucan M; Vincent M; Bolte S; Anderlid B-M; Tammimies K
Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: BLOOD ADVANCES. 2019;3(18):2722-2731
Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6
Jarviaho T; Bang B; Zachariadis V; Taylan F; Moilanen J; Mottonen M; Smith CIE; Harila-Saari A; Niinimaki R; Nordgren A
Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo H; Li Y; Shen L; Wang T; Jia X; Liu L; Xu T; Ou M; Hoekzema K; Wu H; Gillentine MA; Liu C; Ni H; Peng P; Zhao R; Zhang Y; Phornphutkul C; Stegmann APA; Prada CE; Hopkin RJ; Shieh JT; McWalter K; Monaghan KG; van Hasselt PM; van Gassen K; Bai T; Long M; Han L; Quan Y; Chen M; Zhang Y; Li K; Zhang Q; Tan J; Zhu T; Liu Y; Pang N; Peng J; Scott DA; Lalani SR; Azamian M; Mancini GMS; Adams DJ; Kvarnung M; Lindstrand A; Nordgren A; Pevsner J; Osei-Owusu IA; Romano C; Calabrese G; Galesi O; Gecz J; Haan E; Ranells J; Racobaldo M; Nordenskjold M; Madan-Khetarpal S; Sebastian J; Ball S; Zou X; Zhao J; Hu Z; Xia F; Liu P; Rosenfeld JA; de Vries BBA; Bernier RA; Xu Z-QD; Li H; Xie W; Hufnagel RB; Eichler EE; Xia K
Article: CLINICAL GENETICS. 2019;96(2):118-125
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Article: NATURE MEDICINE. 2019;25(4):583-590
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Cogne B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjold M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla OL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk OL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Akdemir ZHC; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denomme-Pichon A-S; Ferec C; Yang X-J; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bezieau S; Kury S; Campeau PM
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; Kvarnung M; Kleefstra T; de Vries BBA; Kury S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF; Bakshi M; Wilson M; Berman Y; Dickson R; Fransen E; Helsmoortel C; Van den Ende J; Van der Aa N; van de Wijdeven MJ; Rosenblum J; Monteiro F; Kok F; Quercia N; Bowdin S; Dyment D; Chitayat D; Alkhunaizi E; Boonen SE; Keren B; Jacquette A; Faivre L; Bezieau S; Isidor B; Riess A; Moog U; Lynch SA; McVeigh T; Elpeleg O; Smeland MF; Fannemel M; van Haeringen A; Maas SM; Veenstra-Knol HE; Schouten M; Willemsen MH; Marcelis CL; Ockeloen C; van der Burgt I; Feenstra I; van der Smagt J; Jezela-Stanek A; Krajewska-Walasek M; Gonzalez-Lamuno D; Anderlid B-M; Malmgren H; Nordenskjold M; Clement E; Hurst J; Metcalfe K; Mansour S; Lachlan K; Clayton-Smith J; Hendon LG; Abdulrahman OA; Morrow E; McMillan C; Gerdts J; Peeden J; Vergano SAS; Valentino C; Chung WK; Ozmore JR; Bedrosian-Sermone S; Dennis A; Treat K; Hughes SS; Safina N; Le Pichon J-B; McGuire M; Infante E; Madan-Khetarpal S; Desai S; Benke P; Krokosky A; Cristian I; Baker L; Gripp K; Stessman HA; Eichenberger J; Jayakar P; Pizzino A; Manning MA; Slattery L
Article: FRONTIERS IN GENETICS. 2019;10:896
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: CLINICAL EPIDEMIOLOGY. 2019;11:793-800
Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study
Tettamanti G; Mogensen H; Nordgren A; Feychting M
Article: CLINICAL GENETICS. 2018;94(6):528-537
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjoeld M; Nordgren A; Lundberg ES
Journal article: CLINICAL CASE REPORTS. 2018;6(11):2103-2110
Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature
Frisk S; Grandpeix-Guyodo C; Silwerfeldt KP; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira CR; Xia Z-J; Clement A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sanchez B; Ng BG; Logan CV; Wolfe LA; Solomon BD; Cho MT; Douglas G; Carvalho DR; Bratke H; Haug MG; Phillips JB; Wegner J; Tiemeyer M; Aoki K; Nordgren A; Hammarsjo A; Duker AL; Rohena L; Hove HB; Ek J; Adams D; Tifft CJ; Onyekweli T; Weixel T; Macnamara E; Radtke K; Powis Z; Earl D; Gabriel M; Russi AHS; Brick L; Kozenko M; Tham E; Raymond KM; Phillips JAIII; Tiller GE; Wilson WG; Hamid R; Malicdan MCV; Nishimura G; Grigelioniene G; Jackson A; Westerfield M; Bober MB; Gahl WA; Freeze HH
Article: HUMAN MUTATION. 2018;39(10):1456-1467
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: TWIN RESEARCH AND HUMAN GENETICS. 2018;21(1):1-11
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
Stamouli S; Anderlid B-M; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer SW; Lichtenstein P; Tammimies K; Bolte S
Article: PLOS ONE. 2018;13(3):e0193928
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
Anh NT; Taylan F; Zachariadis V; Ofverholm II; Lindstrand A; Vezzi F; Lotstedt B; Nordenskjold M; Nordgren A; Nilsson D; Barbany G
Article: MOLECULAR AUTISM. 2018;9:1
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
Nag HE; Nordgren A; Anderlid B-M; Naerland T
Article: SCIENTIFIC REPORTS. 2017;7(1):15585
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
Article: GENETICS IN MEDICINE. 2017;19(8):900-908
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani H; Handley M; Alvi M; Ibitoye R; Lees M; Lynch SA; Lam W; Fannemel M; Nordgren A; Malmgren H; Kvarnung M; Mehta S; McKee S; Whiteford M; Stewart F; Connell F; Clayton-Smith J; Mansour S; Mohammed S; Fryer A; Morton J; Grozeva D; Asam T; Moore D; Sifrim A; McRae J; Hurles ME; Firth HV; Raymond FL; Kini U; Nellaker C; FitzPatrick DR
Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker MR; Heymann G; Wang T; Coe BP; Turner TN; Stessman HAF; Hoekzema K; Kvarnung M; Shaw M; Friend K; Liebelt J; Barnett C; Thompson EM; Haan E; Guo H; Anderlid B-M; Nordgren A; Lindstrand A; Vandeweyer G; Alberti A; Avola E; Vinci M; Giusto S; Pramparo T; Pierce K; Nalabolu S; Michaelson JJ; Sedlacek Z; Santen GWE; Peeters H; Hakonarson H; Courchesne E; Romano C; Kooy RF; Bernier RA; Nordenskjold M; Gecz J; Xia K; Zweifel LS; Eichler EE
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(5):1396-1399
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid B-M; Nordgren A; Lindstrand A
Article: NATURE GENETICS. 2017;49(4):515-526
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman HAF; Xiong B; Coe BP; Wang T; Hoekzema K; Fenckova M; Kvarnung M; Gerdts J; Trinh S; Cosemans N; Vives L; Lin J; Turner TN; Santen G; Ruivenkamp C; Kriek M; van Haeringen A; Aten E; Friend K; Liebelt J; Barnett C; Haan E; Shaw M; Gecz J; Anderlid B-M; Nordgren A; Lindstrand A; Schwartz C; Kooy RF; Vandeweyer G; Helsmoortel C; Romano C; Alberti A; Vinci M; Avola E; Giusto S; Courchesne E; Pramparo T; Pierce K; Nalabolu S; Amaral DG; Scheffer IE; Delatycki MB; Lockhart PJ; Hormozdiari F; Harich B; Castells-Nobau A; Xia K; Peeters H; Nordenskjold M; Schenck A; Bernier RA; Eichler EE
Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
Article: HUMAN MUTATION. 2017;38(2):180-192
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: HUMAN GENETICS. 2017;136(2):179-192
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig NC; Luedecke H-J; Pettersson M; Albrecht B; Bernier RA; Cremer K; Eichler EE; Falkenstein D; Gerdts J; Jansen S; Kuechler A; Kvarnung M; Lindstrand A; Nilsson D; Nordgren A; Pfundt R; Spruijt L; Surowy HM; de Vries BBA; Wieland T; Engels H; Strom TM; Kleefstra T; Wieczorek D
Article: TRANSLATIONAL PSYCHIATRY. 2017;7(1):e1014
Medical history of discordant twins and environmental etiologies of autism
Willfors C; Carlsson T; Anderlid B-M; Nordgren A; Kostrzewa E; Berggren S; Ronald A; Kuja-Halkola R; Tammimies K; Bolte S
Article: CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH. 2017;11:57
Minor physical anomalies in neurodevelopmental disorders: a twin study
Myers L; Anderlid B-M; Nordgren A; Willfors C; Kuja-Halkola R; Tammimies K; Bolte S
Article: ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY. 2017;1031:39-54
Intellectual Disability & Rare Disorders: A Diagnostic Challenge
Kvarnung M; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(12):3069-3082
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BBA; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garcia-Minaur S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Genevieve D; Gerard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJM; Bartsch O; Larizza L; Lacombe D; Hennekam RC
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Kapferer-Seebacher I; Pepin M; Werner R; Aitman TJ; Nordgren A; Stoiber H; Thielens N; Gaboriaud C; Amberger A; Schossig A; Gruber R; Giunta C; Bamshad M; Bjorck E; Chen C; Chitayat D; Dorschner M; Schmitt-Egenolf M; Hale CJ; Hanna D; Hennies HC; Heiss-Kisielewsky I; Lindstrand A; Lundberg P; Mitchell AL; Nickerson DA; Reinstein E; Rohrbach M; Romani N; Schmuth M; Silver R; Taylan F; Vandersteen A; Vandrovcova J; Weerakkody R; Yang M; Pope FM; Byers PH; Zschocke J
Article: LEUKEMIA AND LYMPHOMA. 2016;57(9):2161-2170
Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia
Ofverholm II; Anh NT; Olsson L; Zachariadis V; Heyman M; Rudd E; Lundberg ES; Nordenskjold M; Johansson B; Nordgren A; Barbany G
Article: CANCER EPIDEMIOLOGY. 2016;41:57-62
Increased risk of colorectal cancer in patients diagnosed with breast cancer in women
Lu Y; Segelman J; Nordgren A; Lindstrom L; Frisell J; Martling A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):363-372
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Kasher PR; Schertz KE; Thomas M; Jackson A; Annunziata S; Ballesta-Martinez MJ; Campeau PM; Clayton PE; Eaton JL; Granata T; Guillen-Navarro E; Hernando C; Laverriere CE; Lieden A; Villa-Marcos O; McEntagart M; Nordgren A; Pantaleoni C; Pebrel-Richard C; Sarret C; Sciacca FL; Wright R; Kerr B; Glasgow E; Banka S
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):373-381
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders MRF; Zachariadis V; Latour B; Jolly L; Mancini GM; Pfundt R; Wu KM; van Ravenswaaij-Arts CMA; Veenstra-Knol HE; Anderlid B-MM; Wood SA; Cheung SW; Barnicoat A; Probst F; Magoulas P; Brooks AS; Malmgren H; Harila-Saari A; Marcelis CM; Vreeburg M; Hobson E; Sutton VR; Stark Z; Vogt J; Cooper N; Lim JY; Price S; Lai AHM; Domingo D; Reversade B; Gecz J; Gilissen C; Brunner HG; Kini U; Roepman R; Nordgren A; Kleefstra T
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
Article: NEUROLOGY: GENETICS. 2016;2(1):e49
Expanding the ataxia with oculomotor apraxia type 4 phenotype.
Paucar M; Malmgren H; Taylor M; Reynolds JJ; Svenningsson P; Press R; Nordgren A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome
Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
Article: CLINICAL GENETICS. 2016;89(1):99-103
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M; Taylan F; Nilsson D; Albage M; Nordenskjold M; Anderlid BM; Nordgren A; Lundberg ES
Journal article: JAMA PSYCHIATRY. 2016;73(1):20-30
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
D'Angelo D; Lebon S; Chen Q; Martin-Brevet S; Snyder LG; Hippolyte L; Hanson E; Maillard AM; Faucett WA; Mace A; Pain A; Bernier R; Chawner SJRA; David A; Andrieux J; Aylward E; Baujat G; Caldeira I; Conus P; Ferrari C; Forzano F; Gerard M; Goin-Kochel RP; Grant E; Hunter JV; Isidor B; Jacquette A; Jonch AE; Keren B; Lacombe D; Le Caignec C; Martin CL; Maennik K; Metspalu A; Mignot C; Mukherjee P; Owen MJ; Passeggeri M; Rooryck-Thambo C; Rosenfeld JA; Spence SJ; Steinman KJ; Tjernagel J; Van Haelst M; Shen Y; Draganski B; Sherr EH; Ledbetter DH; van den Bree MBM; Beckmann JS; Spiro JE; Reymond A; Jacquemont S; Chung WK
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2015;170(6):847-858
The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013
Olsson L; Oefverholm II; Noren-Nystroem U; Zachariadis V; Nordlund J; Sjoegren H; Golovleva I; Nordgren A; Paulsson K; Heyman M; Barbany G; Johansson B
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
Article: NATURE GENETICS. 2015;47(6):672-676
The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia
Paulsson K; Lilljebjorn H; Biloglav A; Olsson L; Rissler M; Castor A; Barbany G; Fogelstrand L; Nordgren A; Sjogren H; Fioretos T; Johansson B
Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(5):784-796
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Migliavacca E; Golzio C; Maennik K; Blumenthal I; Oh EC; Harewood L; Kosmicki JA; Loviglio MN; Giannuzzi G; Hippolyte L; Maillard AM; Alfaiz AA; van Haelst MM; Andrieux J; Gusella JF; Daly MJ; Beckmann JS; Jacquemont S; Talkowski ME; Katsanis N; Reymond A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
Article: CLINICAL GENETICS. 2015;87(3):273-278
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Makitie O; Geiberger S; Horemuzova E; Hagenas L; Mostrom E; Nordenskjold M; Grigelioniene G; Nordgren A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations
Winberg J; Berggren H; Malm T; Johansson S; Ramgren JJ; Nilsson B; Lieden A; Nordenskjold A; Gustavsson P; Nordgren A
Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;83(5):361-364
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Reynaert N; Ockeloen CW; Savendahl L; Beckers D; Devriendt K; Kleefstra T; Carels CEL; Grigelioniene G; Nordgren A; Francois I; de Zegher F; Casteels K
Article: CLINICAL EPIGENETICS. 2015;7(1):11
DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia
Nordlund J; Backlin CL; Zachariadis V; Cavelier L; Dahlberg J; Ofverholm I; Barbany G; Nordgren A; Overnas E; Abrahamsson J; Flaegstad T; Heyman MM; Jonsson OG; Kanerva J; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lonnerholm G; Forestier E; Syvanen A-C
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjold M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg H-E; Cattini PA; Nordenskjöld A; Mäkitie O; Grigelioniene G; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART C: SEMINARS IN MEDICAL GENETICS. 2014;166(3):315-326
The Transcriptional Regulator ADNP Links the BAF (SWI/SNF) Complexes With Autism
Vandeweyer G; Helsmoortel C; Van Dijck A; Vulto-van Silfhout AT; Coe BP; Bernier R; Gerdts J; Rooms L; van den Ende J; Bakshi M; Wilson M; Nordgren A; Hendon LG; Abdulrahman OA; Romano C; de Vries BBA; Kleefstra T; Eichler EE; Van der Aa N; Kooy RF
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(7):1635-1641
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Grigelioniene G; Geiberger S; Horemuzova E; Mostrom E; Jantti N; Neumeyer L; Astrom E; Nordenskjold M; Nordgren A; Makitie O
Article: TWIN RESEARCH AND HUMAN GENETICS. 2014;17(3):164-176
The Roots of Autism and ADHD Twin Study in Sweden (RATSS).
Bölte S; Willfors C; Berggren S; Norberg J; Poltrago L; Mevel K; Coco C; Fransson P; Borg J; Sitnikov R; Toro R; Tammimies K; Anderlid B-M; Nordgren A; Falk A; Meyer U; Kere J; Landén M; Dalman C; Ronald A; Anckarsäter H; Lichtenstein P
Article: JOURNAL OF HEMATOLOGY AND ONCOLOGY. 2014;7:32
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries
Lundin C; Forestier E; Andersen MK; Autio K; Barbany G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
Article: NATURE GENETICS. 2014;46(4):380-384
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel C; Vulto-van Silfhout AT; Coe BP; Vandeweyer G; Rooms L; van den Ende J; Schuurs-Hoeijmakers JHM; Marcelis CL; Willemsen MH; Vissers LELM; Yntema HG; Bakshi M; Wilson M; Witherspoon KT; Malmgren H; Nordgren A; Anneren G; Fichera M; Bosco P; Romano C; de Vries BBA; Kleefstra T; Kooy RF; Eichler EE; Van der Aa N
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(2):425-431
Small Mosaic Deletion Encompassing the snoRNAs and SNURF-SNRPN Results in an Atypical Prader-Willi Syndrome Phenotype
Anderlid B-M; Lundin J; Malmgren H; Lehtihet M; Nordgren A
Article: PLOS ONE. 2014;9(1):e85313
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjold E; Svensson P-J; Anneren G; Iwarsson E; Nordgren A; Nordenskjold A
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: CLINICAL GENETICS. 2013;84(6):539-545
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis P; van Bon BW; Steehouwer M; Rodriguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; del Campo M; Cordeiro I; Cueto-Gonzalez AM; Cusco I; Deshpande C; Frysira E; Izatt L; Flores R; Galan E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JHM; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BBA; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161(10):2554-2558
The Phenotype Range of Achondrogenesis 1A
Grigelioniene G; Geiberger S; Papadogiannakis N; Makitie O; Nishimura G; Nordgren A; Conner P
Article: HAEMATOLOGICA. 2013;98(9):1424-1432
High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
Paulsson K; Forestier E; Andersen MK; Autio K; Barbany G; Borgstrom G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1284-1290
Partial Tetrasomy 14 Associated With Multiple Malformations
Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
Article: LEUKEMIA RESEARCH. 2012;36(7):936-938
Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol
Barbany G; Andersen MK; Autio K; Borgstrom G; Franco LC; Golovleva I; Heim S; Heinonen K; Hovland R; Johansson B; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E
Article: HUMAN MUTATION. 2012;33(7):1063-1066
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Laurell T; VanderMeer JE; Wenger AM; Grigelioniene G; Nordenskjold A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Article: GENES CHROMOSOMES AND CANCER. 2012;51(2):196-206
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome
Lundin C; Hjorth L; Behrendtz M; Nordgren A; Palmqvist L; Andersen MK; Biloglav A; Forestier E; Paulsson K; Johansson B
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;155(2):235-243
Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols
Andersen MK; Autio K; Barbany G; Borgstroem G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Johansson B; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E
Article: NATURE. 2011;478(7367):97-U111
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont S; Reymond A; Zufferey F; Harewood L; Walters RG; Kutalik Z; Martinet D; Shen Y; Valsesia A; Beckmann ND; Thorleifsson G; Belfiore M; Bouquillon S; Campion D; de Leeuw N; de Vries BBA; Esko T; Fernandez BA; Fernandez-Aranda F; Manuel Fernandez-Real J; Gratacos M; Guilmatre A; Hoyer J; Jarvelin M-R; Kooy RF; Kurg A; Le Caignec C; Maennik K; Platt OS; Sanlaville D; Van Haelst MM; Villatoro Gomez S; Walha F; Wu B-L; Yu Y; Aboura A; Addor M-C; Alembik Y; Antonarakis SE; Arveiler B; Barth M; Bednarek N; Bena F; Bergmann S; Beri M; Bernardini L; Blaumeiser B; Bonneau D; Bottani A; Boute O; Brunner HG; Cailley D; Callier P; Chiesa J; Chrast J; Coin L; Coutton C; Cuisset J-M; Cuvellier J-C; David A; de Freminville B; Delobel B; Delrue M-A; Demeer B; Descamps D; Didelot G; Dieterich K; Disciglio V; Doco-Fenzy M; Drunat S; Duban-Bedu B; Dubourg C; Moustafa JSE-S; Elliott P; Faas BHW; Faivre L; Faudet A; Fellmann F; Ferrarini A; Fisher R; Flori E; Forer L; Gaillard D; Gerard M; Gieger C; Gimelli S; Gimelli G; Grabe HJ; Guichet A; Guillin O; Hartikainen A-L; Heron D; Hippolyte L; Holder M; Homuth G; Isidor B; Jaillard S; Jaros Z; Jimenez-Murcia S; Helas GJ; Jonveaux P; Kaksonen S; Keren B; Kloss-Brandstaetter A; Knoers NVAM; Koolen DA; Kroisel PM; Kronenberg F; Labalme A; Landais E; Lapi E; Layet V; Legallic S; Leheup B; Leube B; Lewis S; Lucas J; MacDermot KD; Magnusson P; Marshall C; Mathieu-Dramard M; McCarthy MI; Meitinger T; Mencarelli MA; Merla G; Moerman A; Mooser V; Morice-Picard F; Mucciolo M; Nauck M; Ndiaye NC; Nordgren A; Pasquier L; Petit F; Pfundt R; Plessis G; Rajcan-Separovic E; Ramelli GP; Rauch A; Ravazzolo R; Reis A; Renieri A; Richart C; Ried JS; Rieubland C; Roberts W; Roetzer KM; Rooryck C; Rossi M; Saemundsen E; Satre V; Schurmann C; Sigurdsson E; Stavropoulos DJ; Stefansson H; Tengstrom C; Thorsteinsdottir U; Tinahones FJ; Touraine R; Vallee L; van Binsbergen E; Van der Aa N; Vincent-Delorme C; Visvikis-Siest S; Vollenweider P; Voelzke H; Vulto-van Silfhout AT; Waeber G; Wallgren-Pettersson C; Witwicki RM; Zwolinksi S; Andrieux J; Estivill X; Gusella JF; Gustafsson O; Metspalu A; Scherer SW; Stefansson K; Blakemore AIF; Beckmann JS; Froguel P
Article: LEUKEMIA. 2011;25(4):622-628
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial
Zachariadis V; Gauffin F; Kuchinskaya E; Heyman M; Schoumans J; Blennow E; Gustafsson B; Barbany G; Golovleva I; Ehrencrona H; Cavelier L; Palmqvist L; Lonnerholm G; Nordenskjold M; Johansson B; Forestier E; Nordgren A
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(5):615-622
Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol
Kuchinskaya E; Heyman M; Nordgren A; Soderhall S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlen S; Nordenskjold M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2011;156B(2):115-124
Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders
Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppstromer A; Anderlid B-M; Nordenskjold M; Schoumans J
Article: CURRENT GENOMICS. 2010;11(6):409-419
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
Hulten MA; Jonasson J; Nordgren A; Iwarsson E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: LEUKEMIA. 2010;24(5):924-931
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations
Davidsson J; Paulsson K; Lindgren D; Lilljebjorn H; Chaplin T; Forestier E; Andersen MK; Nordgren A; Rosenquist R; Fioretos T; Young BD; Johansson B
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(5):1233-1243
Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A; Malmgren H; Verri A; Benetti E; Eriksson M; Nordgren A; Anderlid B-M; Golovleva I; Schoumans J; Blennow E
Article: CLINICAL GENETICS. 2010;77(2):145-154
Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A; Malmgren H; Sahlen S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
Journal article: BLOOD. 2009;114(22):2591
Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations.
Davidsson J; Paulsson K; Lindgren D; Lilljebjörn H; Chaplin T; Forestier E; Andersen MK; Nordgren A; Rosenquist R; Fioretos T; Young BD; Johansson B
Article: HAEMATOLOGICA. 2009;94(9):1301-1306
Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells
Akagi T; Shih L-Y; Ogawa S; Gerss J; Moore SR; Schreck R; Kawamata N; Liang D-C; Sanada M; Nannya Y; Deneberg S; Zachariadis V; Nordgren A; Song JH; Dugas M; Lehmann S; Koeffler HP
Article: GENES CHROMOSOMES AND CANCER. 2009;48(9):795-805
Clinical and Cytogenetic Features of a Population-Based Consecutive Series of 285 Pediatric T-Cell Acute Lymphoblastic Leukemias: Rare T-cell Receptor Gene Rearrangements Are Associated with Poor Outcome
Karrman K; Forestier E; Heyman M; Andersen MK; Autio K; Blennow E; Borgstrom G; Ehrencrona H; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Palmqvist L; Johansson B
Article: JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY. 2009;31(9):696-701
Expression of VEGF and VEGF Receptors in Childhood Precursor B-cell Acute Lymphoblastic Leukemia Evaluated by Immunohistochemistry
Diffner E; Gauffin F; Anagnostaki L; Nordgren A; Gustafsson B; Sander B; Gustafsson B; Persson JL
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2009;149A(8):1706-1711
Jumping Translocation in a Phenotypically Normal Male: A Study of Mosaicism in Spermatozoa, Lymphocytes, and Fibroblasts
Iwarsson E; Sahlen S; Nordgren A
Article: PEDIATRIC HEMATOLOGY AND ONCOLOGY. 2009;26(1):48-56
EXPRESSION OF PTEN AND SHP1, INVESTIGATED FROM TISSUE MICROARRAYS IN PEDIATRIC ACUTE LYMPHOBLASTIC, LEUKEMIA
Gauffin F; Diffner E; Gustafsson B; Nordgren A; Wingren AG; Sander B; Persson JL; Gustafsson B
Article: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2009;47(12):1467-1469
Quantitation of RNA decay in dried blood spots during 20 years of storage
Gauffin F; Nordgren A; Barbany G; Gustafsson B; Karlsson H
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2008;81(3):218-225
U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner
Bostrom H; Leuchowius K-J; Hallbook H; Nordgren A; Thorn I; Thorselius M; Rosenquist R; Soderberg O; Sundstrom C
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(5):572-577
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding
Kuchinskaya E; Heyman M; Nordgren A; Schoumans J; Staaf J; Borg A; Soderhall S; Grander D; Nordenskjold M; Blennow E
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(6):665-672
Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol:: frequent late relapses but good overall survival
Forestier E; Heyman M; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
Article: LEUKEMIA AND LYMPHOMA. 2008;49(3):477-487
Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia
Thelander EF; Ichimura K; Corcoran M; Barbany G; Nordgren A; Heyman M; Berglund M; Mungall A; Rosenquist R; Collins VP; Grander D; Larsson C; Lagercrantz S
Article: BRITISH JOURNAL OF CANCER. 2007;97(7):992-994
Adenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemia
Gustafsson B; Huang W; Bogdanovic G; Gauffin F; Nordgren A; Talekar G; Ornelles DA; Gooding LR
Article: HUMAN MOLECULAR GENETICS. 2007;16(14):1773-1782
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
Hilton EN; Manson FDC; Urquhart JE; Johnston JJ; Slavotinek AM; Hedera P; Stattin E-L; Nordgren A; Biesecker LG; Black GCM
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2006;135(4):492-499
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
Schoumans J; Johansson B; Corcoran M; Kuchinskaya E; Golovleva I; Grander D; Forestier E; Staaf J; Borg A; Gustafsson B; Blennow E; Nordgren A
Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):447-448
P1: Detailed molecular characterization of a Swedish cohort of Cornelia de Lange syndrome patients
Schoumans J; Maguire P; Staaf J; Jönsson G; Ruivenkamp C; Thuresson A-C; Nordgren A; Malm G; Borg Å; Blennow E; Anderlid B-M; Nordenskjöld M
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2005;74(6):466-480
Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles
Kuchinskaya E; Heyman M; Grandér D; Linderholm M; Söderhäll S; Zaritskey A; Nordgren A; Porwit-MacDonald A; Zueva E; Pawitan Y; Corcoran M; Nordenskjöld M; Blennow E
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(2):260-263
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
Schoumans J; Nordgren A; Ruivenkamp C; Brondum-Nielsen K; Teh BT; Annéren G; Holmberg E; Nordenskjöld M; Anderlid BM
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2003;121(4):566-577
Cytogenetic abnormalities in childhood acute myeloid leukaemia:: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001
Forestier E; Heim S; Blennow E; Borgström G; Holmgren G; Heinonen K; Johannsson J; Kerndrup G; Andersen MK; Lundin C; Nordgren A; Rosenquist R; Swolin B; Johansson B
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2002;68(1):31-41
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding -: Implications for treatment stratification of childhood acute lymphoblastic leukaemia:: detailed analysis of 70 cases
Nordgren A; Heyman M; Sahlén S; Schoumans J; Söderhäll S; Nordenskjöld M; Blennow E
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2001;114(4):786-793
Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype
Nordgren A; Schoumans J; Söderhäll S; Nordenskjöld M; Blennow E
Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2001;66(5):297-304
Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping
Nordgren A; Farnebo F; Johansson B; Holmgren G; Forestier E; Larsson C; Söderhäll S; Nordenskjöld M; Blennow E
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;68(4):1043-1047
Limitations of chromosome classification by multicolor karyotyping
Lee C; Gisselsson D; Jin C; Nordgren A; Ferguson DO; Blennow E; Fletcher JA; Morton CC
Article: GENES CHROMOSOMES AND CANCER. 2000;28(3):308-317
Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping
Kytölä S; Rummukainen J; Nordgren A; Karhu R; Farnebo F; Isola J; Larsson C
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2000;5(5):485-492
New chromosomal breakpoints in non-Hodgkin's lymphomas revealed by spectral karyotyping and G-banding
Nordgren A; Sorensen AG; Tinggaard-Pedersen N; Blennow E; Larsson C; Lagercrantz S
Article: HEMATOLOGY JOURNAL. 2000;1(2):95-101
Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.
Nordgren A; Farnebo F; Björkholm M; Sahlén S; Porwit-MacDonald A; Osby E; Kytölä S; Larsson C; Nordenskjöld M; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1997;73(3):351-355
Trisomy 5q12->q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting
Nordgren A; Arver S; Kvist U; Carter N; Blennow E
Article: CANCER GENETICS. 1997;99(2):93-96
A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: Characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes
Nordgren A; Nordenskjold M; Soderhall S; PorwitMacDonald A; Blennow E
Article: LEUKEMIA. 1996;10(5):909-917
A T cell lymphoblastic lymphoma patient with two malignant cell populations carrying different 9p deletions including the p16(INK4) and p15(INK4B) genes. Clinical response to interferon-alpha therapy in one of the subclones
Heyman M; Nordgren A; JeddiTehrani M; Rasool O; Liu Y; Grander D; Ost A; Wallberg B; Johansson B; Einhorn S
Article: LEUKEMIA. 1996;10(4):662-668
Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridizaiion and morphology
Bernell P; Jacobsson B; Nordgren A; Hast R
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Preprint: MEDRXIV. 2024;MEDRXIV
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K; Eisfeldt J; Bengtsson J; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Schuy J; Ameur A; Undiagnosed Diseases Network; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Nordgren A; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:52
Diagnostic yield and short-term clinical implications of nationwide germline whole genome sequencing in 280 children with solid tumors
Tesi B; Taylan F; Lagerstedt-Robinson K; Abel F; Hellberg M; de Stahl TD; Wessman S; Samuelsson S; Henning K; Frisk T; Sabel M; Vogt H; Nyman P; Giraud G; Wille J; Pronk CJ; Nystrom UN; Borssen M; Fili M; Stalhammar G; Herold N; Orrsjo S; Poluha A; Gonzalez CM; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Shamikh A; Mertens F; Brandell RR; Tham E; Grillner P; Sandgren J; Ljungman G; Nord DG; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:528-529
"Knowing and Treating Kosaki/Penttinen syndromes" international collaborative consortium: a real-life observational study about the natural history of KOGS & PS and the safety & efficacy profile of TKI in these indications
Bouhatous Y-M; Bredrup C; Rustad C; Bardou M; Maurer A; Luu M; Vabres P; Kurtz JE; Schaefer E; Guimier A; Cormier-Daire V; Demoulin J-B; Lim D; Nordgren A; Aguirre-Rodriguez C; Hernandez-Dorronsoro U; Martinez-Soroa I; Iznardo H; Kalantari S; Mussa A; Carli D; Gawlinski P; Svinvik I; Mutlu H; Bluefeather S; Pond D; Zarate Y; Wenger T; Biesecker L; Kosaki K; Binquet C; Foster A; Faivre L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:545-546
Occurrence of cancer in Marfan syndrome: report of two females with neuroblastoma and review of the literature
Gonzalez CM; Taylan F; Tesi B; Lagerstedt-Robinson K; Wessman S; Stenman J; Fagman H; Olsen TK; Georgantzi K; de Stahl TD; Ek T; Palmer R; Forsberg S; Martinsson T; Kogner P; Nordgren A
Review: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):348
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Curic E; Ewans L; Pysar R; Taylan F; Botto LD; Nordgren A; Gahl W; Palmer EE
Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
Precision medicine in rare diseases: What is next?
Tesi B; Boileau C; Boycott KM; Canaud G; Caulfield M; Choukair D; Hill S; Spielmann M; Wedell A; Wirta V; Nordgren A; Lindstrand A
Preprint: PSYARXIV. 2023
No transfer of arousal from other’s eyes: Pupillary contagion in Williams syndrome
Kleberg JL; Hallman AEZ; Galazka M; Riby D; Bölte S; Willfors C; Fawcett C; Nordgren A
Preprint: MEDRXIV. 2023
Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia
Krali O; Marincevic-Zuniga Y; Arvidsson G; Enblad AP; Lundmark A; Sayyab S; Zachariadis V; Heinäniemi M; Suhonen J; Oksa L; Vepsäläinen K; Öfverholm I; Barbany G; Nordgren A; Lilljebjörn H; Fioretos T; Madsen HO; Marquart HV; Flaegstad T; Forestier E; Jónsson ÓG; Kanerva J; Lohi O; Norén-Nyström U; Schmiegelow K; Harila A; Heyman M; Lönnerholm G; Syvänen A-C; Nordlund J
Preprint: MEDRXIV. 2023
Seasonal variation exists in B-Cell Precursor Childhood Acute Lymphoblastic Leukemia diagnosis, but not in Acute Myeloid Leukemia, Brain Tumors or Solid Tumors – a Swedish population-based study
Bychkov G; Bang B; Engsner N; Heyman MM; Nordenvall AS; Tettamanti G; Herold N; Taylan F; Pontén E; Albert J; Jörnsten R; Strannegård C; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:524-525
Imprinting relaxation of an ovarian dysgerminoma in a patient with Prader-Willi syndrome
Gonzalez CM; Wessman S; Tesi B; Taylan F; McCluggage G; Kuchinskaya E; Poluha A; Holm S; Nargard R; de Stahl TD; Nord DG; Lagerstedt K; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:326-327
ERN-ITHACA: European Reference Network on congenital malformations and rare neurodevelopmental disabilities
Le Dref M; Avela K; Bartuli A; Bedeschi MF; Dan D; Demirdas S; Houge SD; Dufke A; Faivre L; Genevieve D; Guerrini R; Hadzsiev K; Hennekam R; Hugon A; Huning I; Jouannic J-M; Kaiser FJ; Kleefstra T; Lacombe D; Macek M; Matuleviciene A; Mazzanti L; Menke L; Meuwissen M; Mosiello G; Nordgren A; Odent S; Petit F; Puiu M; Ramos L; Renieri A; Rossi M; Salviati L; Sigaudy S; Stumpel C; Szeto N; Tanteles G; Tartaglia M; Tumer Z; Tumiene B; van Eeghen A; Van Esch H; Van Ierland Y; Vilain C; Vissers L; Vyshka K; Wieczorek D; Zampino G; Verloes A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:395-396
Inversion of LMX1B-a novel cause of nail-patella syndrome in a Swedish family
Lindelof H; Horemuzova E; Nordgren A; Voss U; Hammarsjo A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:512-513
A novel FLCN-related syndrome that leads to intellectual disability, developmental delay and immunodeficiency
Taylan F; Gonzalez CM; Khoshnood B; Campbell T; Bobeck J; Bryceson Y; Nordenskjold M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
Costs and diagnostic yield of whole genome sequencing in neurodevelopmental disorders
Soller M; Runheim H; Nordgren A; Petters-Son M; Hammarsjo A; Henriksson M; Levin L-A; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
Parental mosaicism is underestimated in rare intellectual disability syndromes
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
Implementation of genomic medicine in Stockholm healthcare region - update on first 10,000 samples
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Lesko N; Nilsson D; Vonlanthen S; Eisfeldt J; Kvarnung M; Engvall M; Malmgren H; Anderlid B-M; Rasi C; Jemt A; Marits P; Soller MJ; Nordgren A; Wirta V; Wedell A
Letter: NATURE MEDICINE. 2022;28(10):1980-1982
Implementing precision medicine in a regionally organized healthcare system in Sweden
Fioretos T; Wirta V; Cavelier L; Berglund E; Friedman M; Akhras M; Botling J; Ehrencrona H; Engstrand L; Helenius G; Fagerqvist T; Gisselsson D; Gruvberger-Saal S; Gyllensten U; Heidenblad M; Hoglund K; Jacobsson B; Johansson M; Johansson A; Soller MJ; Landstrom M; Larsson P; Levin L-A; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Molling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Soderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjo A; Rosenquist R
Conference publication: 2022;00:1-9
Ecosystem Models Based on Artificial Intelligence
Strannegård C; Engsner N; Eisfeldt J; Endler J; Hansson A; Lindgren R; Mostad P; Olsson S; Perini I; Reese H; Taylan F; Ulfsbäcker S; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
Solve-RD: the ITHACA perspective
Denomme-Pichon A-S; de Boer E; Jackson A; Benetti E; Banka S; Casari G; Ciolfi A; Clayton-Smith J; Dallapiccola B; Ellwanger K; Faivre L; Gilissen C; Graessner H; Haack TB; Hammarsjo A; Havlovicova M; Hoischen A; Hugon A; Kleefstra T; Lindstrand A; Lopez-Martin E; Macek MJ; Matalonga L; Morleo M; Nigro V; Nordgren A; Pettersson M; Pinelli M; Pizzi S; Posada M; Radio FC; Renieri A; Rooryck C; Ryba L; Schwarz M; Tartaglia M; Thauvin C; Torella A; Trimouille A; Votypka P; Vyshka K; Zurek B; Verloes A; Vitobello A; Vissers L
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):558-559
Creation of a joint consortium to treat Kosaki syndrome
Luu M; Foster A; Aguirre Rodriguez C; Westergren H; Hernandez Dorronsor U; Martinez Soroa I; Lim D; Thompson S; Nordgren A; Bluefeather S; Schaefer E; Bardou M; Vabres P; Kurtz J-E; Faivre L
Conference publication: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2021;65(9):811
WILLIAMS SYNDROME: ON THE ROLE OF INTELLECTUAL ABILITIES IN ANXIETY
Willfors C; Riby D; Kleberg JL; Nordgren A
Preprint: PSYARXIV. 2020
Williams syndrome: Reduced attention to other’s eyes in a hypersocial phenotype
Kleberg JL; Riby D; Fawcett C; Avdic HB; Frick MA; Brocki K; Högström J; Serlachius E; Nordgren A; Willfors C
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Kvarnung M; Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Lindstrand A; Nordgren A; Anderlid B; Rosenfeld JA; Liu P; Scheffer IE; Brunetti-Perri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy FR; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
Increased yield of genetic diagnoses in skeletal ciliopathies using massively parallel sequencing, structural variant and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
Non-mosaic germline cancer hotspot mutation p. Ser1344Leu in the RNase IIIa domain of DICER1 causes a GLOW syndrome-like phenotype
Frisk SA; Ponten E; Lagerstedt-Robinson K; Vaz R; Taylan F; Nordgren A
Editorial comment: NATURE GENETICS. 2020;52(1):21-26
A call for global action for rare diseases in Africa
Baynam GS; Groft S; van der Westhuizen FH; Gassman SD; du Plessis K; Coles EP; Selebatso E; Selebatso M; Gaobinelwe B; Selebatso T; Joel D; Llera VA; Vorster BC; Wuebbels B; Djoudalbaye B; Austin CP; Kumuthini J; Forman J; Kaufmann P; Chipeta J; Gavhed D; Larsson A; Stojiljkovic M; Nordgren A; Roldan EJA; Taruscio D; Wong-Rieger D; Nowak K; Bilkey GA; Easteal S; Bowdin S; Reichardt JKV; Beltran S; Kosaki K; van Karnebeek CDM; Gong M; Zhang S; Mehrian-Shai R; Adams DR; Puri RD; Zhang F; Pachter N; Muenke M; Nellaker C; Gahl WA; Cederroth H; Broley S; Schoonen M; Boycott KM; Posada M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
Editorial comment: STEM CELL RESEARCH. 2019;39:101518
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
Schuster J; Sobol M; Fatima A; Khalfallah A; Laan L; Anderlid B-M; Nordgren A; Dahl N
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia
Jarviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Mottonen M; Niinimaki R; Bang B; Rahikkala E; Taylan F; Uusimaa J; Harila-Saari A; Nordgren A
Review: CLINICAL GENETICS. 2019;95(4):462-478
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
Zollino M; Zweier C; Van Balkom ID; Sweetser DA; Alaimo J; Bijlsma EK; Cody J; Elsea SH; Giurgea I; Macchiaiolo M; Smigiel R; Thibert RL; Benoist I; Clayton-Smith J; De Winter CF; Deckers S; Gandhi A; Huisman S; Kempink D; Kruisinga F; Lamacchia V; Marangi G; Menke L; Mulder P; Nordgren A; Renieri A; Routledge S; Saunders CJ; Stembalska A; Van Balkom H; Whalen S; Hennekam RC
Letter: CLINICAL CHEMISTRY. 2019;65(2):345-347
Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR
Taylan F; Bang B; Ofverholm II; Anh-Nhi T; Heyman M; Barbany G; Zachariadis V; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
Mosaic activating PIK3CA mutations during early embryonic development cause ectopic muscle development and upper limb overgrowth
Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Nilsson D; Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
Family trio analysis in rare syndromes - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome
Kvarnung M; Shahsavani M; Taylan F; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Conference publication: MOLECULAR CYTOGENETICS. 2019;12
From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics
Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Nilsson D; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:548-549
Germline translocation affecting ETV6 predisposes to childhood acute lymphoblastic leukemia (ALL)
Bang B; Jarviaho T; Zachariadis V; Taylan F; Niinimaki R; Moilanen J; Harila-Saari A; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:644-645
Back-tracing of leukemia clones in childhood B-cell progenitor acute lymphocytic leukemia using digital PCR
Taylan F; Zachariadis V; Bang B; Ofverholm I; Harila-Saari A; Heyman M; Tran A; Barbany G; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection
Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
Whole exome sequencing in rare syndromes using family trios - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
Preprint: BIORXIV. 2017
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
Stamouli S; Anderlid B-M; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer S; Lichtenstein P; Tammimies K; Bölte S
Review: LAKARTIDNINGEN. 2017;114:ELYP
[Insufficient knowledge of the relationship between sex chromosome abnormalities and psychiatric diagnoses].
Björlin Avdic H; Giacobini M; Anderlid B-M; Nordgren A; Frisén L
Corrigendum: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(3):367
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome (vol 4, pg 39, 2016)
Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
Letter: HAEMATOLOGICA. 2016;101(1):e20-e23
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia
Marincevic-Zuniga Y; Zachariadis V; Cavelier L; Castor A; Barbany G; Forestier E; Fogelstrand L; Heyman M; Abrahamsson J; Lonnerholm G; Nordgren A; Syvanen A-C; Nordlund J
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(1):266-269
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu
Hammarsjo A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedren S; Nordenskjold M; Nishimura G; Grigelioniene G
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1270
Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Conference publication: BLOOD. 2014;124(21):1085
Novel Focal Gene Deletions in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia Detected By Array Comparative Genomic Hybridization
Ofverholm II; Anh NT; Zachariadis V; Heyman M; Rudd E; Lundberg ES; Nordenskjold M; Nordgren A; Barbany G
Conference publication: BLOOD. 2014;124(21):490
DNA Methylation-Based Subtype Prediction for Pediatric Acute Lymphoblastic Leukemia (ALL)
Nordlund J; Backlin C; Zachariadis V; Cavelier L; Dahlberg J; Ofverholm I; Barbany G; Nordgren A; Overnas E; Abrahamsson J; Flaegstad T; Heyman M; Jonsson OG; Kanerva JA; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lonnerholm G; Forestier E; Syvanen A-C
Letter: LEUKEMIA. 2014;28(1):196-198
Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization
Zachariadis V; Schoumans J; Ofverholm I; Barbany G; Halvardsson E; Forestier E; Johansson B; Nordenskjold M; Nordgren A
Conference publication: HAEMATOLOGICA. 2014;99:9
PROGNOSTIC IMPACT OF IKZF1 DELETIONS IN PEDIATRIC B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA TREATED ACCORDING TO NOPHO PROTOCOLS - THE SWEDISH EXPERIENCE
Ofverholm II; Olsson L; Noren-Nystrom U; Forestier E; Nordlund J; Sjogren H; Golovleva I; Heyman M; Zachariadis V; Nordgren A; Johansson B; Barbany G
Letter: LEUKEMIA AND LYMPHOMA. 2013;54(12):2742-2744
The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia
Barbany G; Gauffin F; Ofverholm I; Karlsson H; Thorn I; Arvidson J; Heyman M; Gustafsson B; Nordgren A
Letter: LEUKEMIA. 2013;27(9):1936-1939
Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols
Ofverholm I; Tran AN; Heyman M; Zachariadis V; Nordenskjold M; Nordgren A; Barbany G
Letter: LEUKEMIA. 2013;27(4):974-977
Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements
Paulsson K; Harrison CJ; Andersen MK; Chilton L; Nordgren A; Moorman AV; Johansson B
Conference publication: CHROMOSOME RESEARCH. 2013;21:S16
Hidden mosaicism: a rare explanation for recurrent miscarriages and affected offspring?
Blennow E; Kouru KH; Kvarnung M; Nordgren A; Malmgren H
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
Zachariadis V; Schoumans J; Barbany G; Heyman M; Forestier E; Johansson B; Nordenskjold M; Nordgren A
Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].
Anderlid B-M; Blennow E; Giacobini M; Nordgren A; Wincent J; Schoumans J; Nordenskjöld M
Review: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;84(1):17-25
Characterisation of hairy cell leukaemia by tiling resolution array-based comparative Genome hybridisation: a series of 13 cases and review of the literature
Nordgren A; Corcoran M; Saaf A; Bremer A; Kluin-Nelemans HC; Schoumans J; Grander D
Conference publication: CHROMOSOME RESEARCH. 2009;17:80-81
Atypical deletion in the Prader Willi region
Nordgren A; Lundin J; Malmgren H; Lehtihet M; Anderlid B
Conference publication: BLOOD. 2009;114(22):1017
Relapsed Childhood High Hyperdiploid Acute Lymphoblastic Leukemia: Genome-Wide Screening Reveals the Presence of Preleukemic Ancestral Clones and the Secondary Nature of Microdeletions and RTK-RAS Mutations
Davidsson J; Paulsson K; Lindgren D; Lilljebjorn H; Chaplin T; Forestier E; Andersen MK; Nordgren A; Rosenquist R; Fioretos T; Young BD; Johansson B
Letter: LEUKEMIA. 2009;23(1):209-212
Dic(9;20)(p13;q11) in childhood acute lymphoblastic leukaemia is related to low cellular resistance to asparaginase, cytarabine and corticosteroids
Lonnerholm G; Nordgren A; Frost B-M; Jonsson OG; Kanerva J; Nygaard R; Schmiegelow K; Larsson R; Forestier E
Review: GENES CHROMOSOMES AND CANCER. 2008;47(2):149-158
Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias:: A nordic series of 24 cases and review of the literature
Forestier E; Gauffin F; Andersen MK; Autio K; Borgstrom G; Golovleva I; Gustafsson B; Heim S; Heinonen K; Heyman M; Hovland R; Johannsson JH; Kerndrup G; Rosenquist R; Schoumans J; Swolin B; Johansson B; Nordgren A
Letter: LEUKEMIA. 2007;21(6):1327-1330
Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification:: the result of telomere dysfunction and breakage/fusion/breakage cycles?
Kuchinskaya E; Nordgren A; Heyman M; Schoumans J; Corcoran M; Staaf J; Borg A; Soderhall S; Grander D; Nordenskjold M; Blennow E
Review: GENES CHROMOSOMES AND CANCER. 2007;46(5):440-450
Cytogenetic patterns in ETV6/RUNXI-positive pediatric B-cell precursor acute lymphoblastic leukemia:: A Nordic series of 245 cases and review of the literature
Forestier E; Andersen MK; Autio K; Blennow E; Borgstrom G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B
Conference publication: CELLULAR ONCOLOGY (DORDRECHT). 2007;29(2):118-119
Hidden unbalanced chromosomal abnormalities revealed by tiling array-CGH in children with acute lymphoblastic leukemia with normal G-banding karyotype
Kuchinskaya E; Nordgren A; Heyman M; Schoumans J; Corcoran M; Staaf J; Borg A; Soderhall S; Grander D; Nordenskjold M
Review: LEUKEMIA AND LYMPHOMA. 2003;44(12):2039-2053
Hidden aberrations diagnosed by interphase fluorescence in situ hybridisation and spectral karyotyping in childhood acute lymphoblastic leukaemia
Nordgren A
Thesis / dissertation: 2001
Characterisation of chromosomal aberrations in childhood leukaemia
Nordgren, Ann
Meeting abstract: PEDIATRIC RESEARCH. 1999;45(4):144A
Characterization of chromosomal changes in 17 children with acute lymphoblastic leukemia and hyperdiploidy using spectral karyotyping (SKY)
Blennow E; Nordgren A; Farnebo F; Soderhall S; Nordenskjold M
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Forskningsbidrag

Therapy persistence states and relapse in pediatric leukemia
Swedish Research Council
1 January 2024 - 31 December 2026
Constitutional genetic aberrations behind childhood cancer
Swedish Research Council
1 December 2021 - 31 December 2025
Differentiation state instability and clonal selection as escape paths from anticancer therapy
Swedish Research Council
1 January 2021 - 31 December 2023
Constitutional genetic aberrations behind childhood cancer predisposition
Swedish Cancer Society
1 January 2019
Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.
Swedish Research Council
1 January 2019 - 31 December 2021
Constitutional genetic aberrations behind childhood cancer
Swedish Research Council
1 January 2019 - 31 December 2021
Transparent AI methods for analysis of prognostic and etiological factors in childhood cancer
Barncancerfonden
1 January 2019 - 31 December 2019
Psychiatry in atypical sex development
Swedish Research Council
1 January 2018 - 31 December 2020
The importance of innate genetic factors for childhood cancer
Swedish Cancer Society
1 January 2017
Constitutional genetic aberrations behind childhood cancer
Swedish Research Council
1 January 2016 - 31 December 2018
Genetic causes of neurodevelopmental disorders
Swedish Research Council
1 January 2012 - 31 December 2014

Anställningar

Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2019-2027

Examina och utbildning

Docent, Medicinsk genetik, Karolinska Institutet, 2010
MEDICINE DOKTORSEXAMEN, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2001

Handledare

Hillevi Lindelöf, 2020
Emeli Pontén, 2018
Emelie Ponten, 2017
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903
Carolina Maya Gonzalez
Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721
Benedicte Bang
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases

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