Ann Nordgren

Om mig
Publikationer
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: 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; Lidéus 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; Annerén 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.

Grudzinska Pechhacker MK; 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; 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
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; Lindelöf H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjö 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; Bölte S; Willfors C; Fawcett C; Nordgren A
Article: SCIENTIFIC REPORTS. 2023;13(1):15858

Reduced effects of social feedback on learning in Turner syndrome.

Björlin Avdic H; Strannegård C; Engberg H; Willfors C; Nordgren I; Frisén 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; Chorfi S; Lakhani SA; Ji W; Steiner L; Marcadier J; Jansen PR; van de Pol LA; van Hagen JM; Russi AS; Le Guyader G; Nordenskjöld M; Nordgren A; Anderlid B-M; Plaisancié 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; Geneviève D; Chatron N; Schluth-Bolard C; Myers KA; Dobyns WB; Calvas P; DDD Study; 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; Pontén 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; Björlin Avdic H; Frick MA; Brocki KC; Högström 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; Diaz De Ståhl T; Tesi B; Orsmark Pietras C; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjö S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Olsson Bontell T; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nistér M; Mertens F; Sabel M; Norén-Nyström U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D; Genomic Medicine Sweden Childhood Cancer Working G
Article: COGNITIVE NEUROPSYCHIATRY. 2023;28(3):207-225

Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD.

Björlin Avdic H; Kleberg JL; van der Poll M; Frisén 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; Hammarsjö A; Nordgren A; Henriksson M; Lindstrand A; Levin L-Å; Soller MJ
Article: SCIENTIFIC REPORTS. 2023;13(1):164

Social feedback enhances learning in Williams syndrome.

Kleberg JL; Willfors C; Björlin Avdic H; Riby D; Galazka MA; Guath M; Nordgren A; Strannegård 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-González C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergårdh R; Díaz De Ståhl T; Höybye 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; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadóttir 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; Johansson Soller M; 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; Jäntti 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; Lindelöf H; Wang S; Hammarsjö 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; Deciphering Disorders Involving Scoliosis and COmo; 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.

Pontén E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren 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: 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.

Lindelöf H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjö A
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; Avdic Björlin H; 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.

Hammarsjö 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; Korņejeva 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: 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; CAUSES Study; 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; SPARK Consortium; 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; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström 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; Kühnle I; Kramm CM; Alanay Y; Jones WD; Irving M; Sabir A; Henter J-I; Borgström B; Nordgren A; Hammarsjö A; Putti C; Mozzato C; Zuccarello D; Nishimura G; Bonafè L; Grigelioniene G; Unger S; Superti-Furga A
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: 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; Akçören Z; Utine GE; Chiu T; Shimizu K; Hammarsjö 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: 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; 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; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld 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; Marin Navarro A; Zhou L; Sundström A; van Bree N; Stantic M; Moslem M; Tailor J; Rietdijk J; Zubillaga V; Hübner J-M; Weishaupt H; Wolfsberger J; Alafuzoff I; Nordgren A; Magnaldo T; Siesjö 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; Bölte 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; Emandi AC; 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; ERN ITHACA
Article: CELL DEATH & 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; Böhm 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; Åström E; Nordgren A; Taylan F; Dahllöf G
Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia.

Ivanov Öfverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Tran AN; Saft L; Nilsson D; Syvänen A-C; Lönnerholm G; Harila-Saari A; Nordenskjöld 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; Ehrén H; Fossum M; Wester T; Nordgren A; Nordenskjöld A
Article: CELL DEATH & 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.

Marin Navarro A; 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; Hranilović D; Polesie S; Isaksson J; Nordgren A; Bucan M; Vincent M; Bölte 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; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld 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.

Järviaho T; Bang B; Zachariadis V; Taylan F; Moilanen J; Möttönen M; Smith CIE; Harila-Saari A; Niinimäki 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; Annerén 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; Hammarsjö A; Marsk E; Nordgren A; Nordenskjöld 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.

Cogné 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; Nordenskjöld 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 ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; CAUSES Study; 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; Denommé-Pichon A-S; Deciphering Developmental Disorders study; Férec 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; Bézieau S; Küry S; Campeau PM
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Salehi Karlslätt K; Pettersson M; Jäntti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjöld 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; ADNP Consortium; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
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; Nordenskjöld M; Syk Lundberg E; 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; Nordenskjöld M; Nordgren A; Lundberg ES
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; Mäkitie O; Nordgren A; Vezzi F; Wirta V; Käller M; Hjortshøj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tümer 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; Clément A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sánchez 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; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A; Hammarsjö 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 JA; 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; Hammarsjö 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; Bölte S
Article: PLOS ONE. 2018;13(3):e0193928

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Tran AN; Taylan F; Zachariadis V; Ivanov Öfverholm I; Lindstrand A; Vezzi F; Lötstedt B; Nordenskjöld 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; Nærland T
Article: SCIENTIFIC REPORTS. 2017;7(1):15585

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö 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: 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; Nordenskjöld M; Gecz J; Xia K; Zweifel LS; Eichler EE
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; UK10K Consortium; Grozeva D; Asam T; Moore D; Sifrim A; McRae J; Hurles ME; Firth HV; Raymond FL; Kini U; Nellåker C; Ddd Study; FitzPatrick DR
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; Nordenskjöld 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; Förster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Mäkitie O; Wirta V; Käller M; Vezzi F; Lupski JR; Nordenskjöld 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; Lüdecke 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; Bölte S
Article: CELL BIOLOGY AND TRANSLATIONAL MEDICINE, VOL 14: STEM CELLS IN LINEAGE SPECIFIC DIFFERENTIATION AND DISEASE. 2017;1031:39-54

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.

Kvarnung M; Nordgren A
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; Bölte S
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; Garciá-Minaúr S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Geneviève D; Gérard 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; Björck 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; Molecular Basis of Periodontal EDS Consortium; Byers PH; Zschocke J
Article: LEUKEMIA & LYMPHOMA. 2016;57(9):2161-2170

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

Ivanov Öfverholm I; Tran AN; Olsson L; Zachariadis V; Heyman M; Rudd E; Syk Lundberg E; Nordenskjöld 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; Lindström 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; Guillén-Navarro E; Hernando C; Laverriere CE; Liedén 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; DDD Study; 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; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge 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; Albåge M; Nordenskjöld M; Anderlid BM; Nordgren A; Syk Lundberg E
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; Ivanov Öfverholm I; Norén-Nyström U; Zachariadis V; Nordlund J; Sjögren 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; Lilljebjörn H; Biloglav A; Olsson L; Rissler M; Castor A; Barbany G; Fogelstrand L; Nordgren A; Sjögren H; Fioretos T; Johansson B
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).

Mäkitie O; Geiberger S; Horemuzova E; Hagenäs L; Moström E; Nordenskjöld 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; Johansson Ramgren J; Nilsson B; Liedén A; Nordenskjöld 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; Sävendahl 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; Bäcklin CL; Zachariadis V; Cavelier L; Dahlberg J; Öfverholm I; Barbany G; Nordgren A; Övernäs E; Abrahamsson J; Flaegstad T; Heyman MM; Jónsson ÓG; Kanerva J; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lönnerholm G; Forestier E; Syvänen 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; Nordenskjöld 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: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 2014;166C(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: 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 A. 2014;164A(7):1635-1641

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G; Geiberger S; Horemuzova E; Moström E; Jäntti N; Neumeyer L; Åström E; Nordenskjöld M; Nordgren A; Mäkitie 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 & ONCOLOGY. 2014;7:32

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.

Lundin C; Forestier E; Klarskov Andersen M; Autio K; Barbany G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B; Nordic Society of Pediatric Hematology Oncology (N; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
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; Annerén 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;164A(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: 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; Nordenskjöld M; Mäkitie O; 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; Nordenskjöld E; Svensson P-J; Annerén G; Iwarsson E; Nordgren A; Nordenskjöld 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; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán 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; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(10):2554-2558

The phenotype range of achondrogenesis 1A.

Grigelioniene G; Geiberger S; Papadogiannakis N; Mäkitie 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; Borgström G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B; Nordic Society of Pediatric Hematology and Oncolog; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
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; Stödberg T; Mäkitie O; Anderlid B-M; Bryceson YT; Nordenskjöld 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; Lagerstedt Robinson K; Naess K; Lesko N; Wibom R; Liedén A; Anderlid B-M; Graff C; Nordenskjöld 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; Borgström G; Franco LC; Golovleva I; Heim S; Heinonen K; Hovland R; Johansson B; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E; Nordic Society of Paediatric Haematology and Oncol; Swedish Cytogenetic Leukaemia Study Group; NOPHO Leukaemia Cytogenetic Study Group
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; Nordenskjöld A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Article: GENES CHROMOSOMES & 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; Borgström 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; Fernández-Aranda F; Fernández-Real JM; Gratacòs M; Guilmatre A; Hoyer J; Jarvelin M-R; Kooy RF; Kurg A; Le Caignec C; Männik 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; Béna 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; El-Sayed Moustafa JS; 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; Jiménez-Murcia S; Helas GJ; Jonveaux P; Kaksonen S; Keren B; Kloss-Brandstätter 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; Tengström C; Thorsteinsdóttir U; Tinahones FJ; Touraine R; Vallée L; van Binsbergen E; Van der Aa N; Vincent-Delorme C; Visvikis-Siest S; Vollenweider P; Völzke 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: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156(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; Uppströmer A; Anderlid B-M; Nordenskjöld M; Schoumans J
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; Söderhäll S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlén S; Nordenskjöld M; Blennow E
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?

Hultén 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; Nordenström A; Anderlid B-M; Bondeson M-L; Nordenskjöld 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; Lilljebjörn 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; Sahlén S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
Article: GENES CHROMOSOMES & 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; Borgström G; Ehrencrona H; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Palmqvist L; Johansson B; Nordic Society of Pediatric Hematology, Oncology (; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
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: 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; Sahlén S; Nordgren A
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: 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: 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.

Boström H; Leuchowius K-J; Hallböök H; Nordgren A; Thörn I; Thorselius M; Rosenquist R; Söderberg O; Sundström C
Article: LEUKEMIA & 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; Grandér D; Larsson C; Lagercrantz S
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; Söderhäll S; Grandér D; Nordenskjöld 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; Borgström G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B; Nordic Society of Paediatric Haematology, Oncology; Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG)
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; Grandér D; Forestier E; Staaf J; Borg A; Gustafsson B; Blennow E; Nordgren A
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; Brøndum-Nielsen K; Teh BT; Annéren G; Holmberg E; Nordenskjöld M; Anderlid B-M
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; Nordic Society of Paediatric Haematology and Oncol; Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG)
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 & 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; Sørensen 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; Nordenskjöld M; Söderhäll S; Porwit-MacDonald 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 p16INK4 and p15INK4B genes: Clinical response to interferon-alpha therapy in one of the subclones.

Heyman M; Nordgren A; Jeddi-Tehrani M; Rasool O; Liu Y; Grander D; Ost A; Wallberg B; Johansson B
Article: LEUKEMIA. 1996;10(4):662-668

Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridization and morphology.

Bernell P; Jacobsson B; Nordgren A; Hast R
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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
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; Höglund K; Jacobsson B; Johansson M; Johansson Å; Soller MJ; Landström M; Larsson P; Levin L-Å; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Mölling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Söderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjö A; Rosenquist R
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398

Author Correction: 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; 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; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
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; Shuyang Z; 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
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
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: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Järviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Möttönen M; Niinimäki R; Bang B; Rahikkala E; Taylan F; Uusimaa J; Harila-Saari A; Nordgren A
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; Öfverholm II; Tran A-N; Heyman M; Barbany G; Zachariadis V; Nordgren A
Other: 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; Popovic Silwerfeldt K; Hjartarson HT; Chatzianastassiou D; Magnusson I; Laurell T; Nordgren A
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
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170A(1):266-269

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedrén S; Nordenskjöld M; Nishimura G; Grigelioniene G
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; Lönnerholm G; Nordgren A; Syvänen A-C; Nordlund J
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; Hammarsjö A; Armenio M; Mäkitie O; Zabel B; Nordgren A; Nordenskjöld M; Grigelioniene G
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; Nordenskjöld M; Nordgren A
Letter: LEUKEMIA & 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; Öfverholm I; Karlsson H; Thörn 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; Nordenskjöld 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
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; Nordenskjöld 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; Sääf A; Bremer A; Kluin-Nelemans HC; Schoumans J; Grandér D
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.

Lönnerholm G; Nordgren A; Frost B-M; Jonsson OG; Kanerva J; Nygaard R; Schmiegelow K; Larsson R; Forestier E
Review: GENES CHROMOSOMES & 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; Borgström 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; Nordic Society of Pediatric Hematology and Oncolog; Swedish Cytogenetic Leukemia Study Group; NOPHO Leukemia Cytogenetic Study Group
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; Söderhäll S; Grandér D; Nordenskjöld M; Blennow E
Review: GENES CHROMOSOMES & CANCER. 2007;46(5):440-450

Cytogenetic patterns in ETV6/RUNX1-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; Borgström G; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Rosenquist R; Swolin B; Johansson B; Nordic Society of Pediatric Hematology and Oncolog; Swedish Cytogenetic Leukemia Study Group (SCLSG); NOPHO Leukemia Cytogenetic Study Group (NLCSG)
Review: LEUKEMIA & 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
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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Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2019-2027

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

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Emeli Pontén, 2018
Benedicte Bang
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases

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