Ann Nordgren

Om mig
Publikationer
CV
Populärvetenskap och samverkan

Om mig

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

Professor i klinisk genetik, Sahlgrenska Akademin/Sahlgrenska Unic´versitetssjukhuset

Forskningsbeskrivning

Sällsynta diagnoser
Barncancerpredisposition
Intellektuell funktionsnedsättning
Missbildningar
Syndromutredning
Fenotypning
Cytogenetik
Genomik
Epigenetik

Undervisning

Ämnesföreträdare - Klinisk genetik på läkarprogrammet i Göteborg
Föreläser på grundutbildningen för läkare om Sällsynta diagnoser och Syndromutredning
Utformat ST-kurs Sällsynta diagnoser som ges med jämna mellanrum.
Föreläser regelbundet för ST-läkare och specialister inom pediatrik om syndromdiagnostik och barncancer predisposition samt om specifika genetiska syndrom
Föreläser regelbundet på familjevistelser och patientträffar.
Skrivit kapitel om syndromdiagnostik i läroboken "Genetiska sjukdomar" samt kapitel om specifika diagnoser i Socialstyrelsens databas för Sällsynta Hälsotillstånd

Artiklar

Journal article: JOURNAL OF MEDICAL GENETICS. 2025;:jmg-2024-110600
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
Bouhatous Y-M; Bredrup C; Maurer A; Mirakovska L; Foster A; Kosaki K; Jost C; Demoulin J-B; Luu M; Vabres P; Kurtz J-E; Schaefer E; Guimier A; Cormier-Daire V; Lim D; Thompson S; Olson L; Kwon HR; Aguirre-Rodriguez C; Hernandez-Dorronsoro U; Martinez-Soroa I; Iznardo H; Mascaro J-MJ; Baselga E; Kalantari S; Mussa A; Gazzin A; Carli D; Svinvik I; Mutlu-Albayrak H; Bluefeather S; Zarate Y; Takenouchi T; Naicker T; Chateau A; Gokhul A; Dube-Pule A; Haniffa M; Ong Peitee W; Nordgren A; Carpentier M; Binquet C; Briffaut A-S; Bal L; Pond D; Rustad CF; Bardou M; Faivre L
Journal article: JOURNAL OF CLINICAL INVESTIGATION. 2025;:e193099
SPNS1 variants cause multi-organ disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.
He M; Ding M; Chocholouskova M; Chin CF; Engvall M; Malmgren H; Wagner M; Lauffer MC; Heisinger J; Malicdan MCV; Allamand V; Durbeej M; Delgado-Vega AM; Sejersen T; Nordgren A; Torta F; Silver DL
Article: UROLOGY PRACTICE. 2025;:101097upj0000000000000860
Mortality and Causes of Death in Boys and Men Born With Hypospadias: A Swedish Population-Based Cohort Study.
Phillips L; Tettamanti G; Nordgren A; Nordenvall AS; Nordenskjöld A
Article: FRONTIERS IN GENETICS. 2025;16:1580879
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting
Malmgren H; Kvarnung M; Gustafsson P; Anderlid B-M; Arthur C; Carlsten J; De Geer K; Ehn E; Grigelioniene G; Hammarsjo A; Helgadottir HT; Hellstrom-Pigg M; Iwarsson E; Kuchinskaya E; Lindelof H; Mannila M; Nilsson D; Pettersson M; Rudd E; Sahlin E; Tesi B; Tham E; Thonberg H; Westenius E; Winberg J; Winerdal M; Nordenskjold M; Johansson-Soller M; Wirta V; Nordgren A; Lindstrand A; Lagerstedt-Robinson K
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
Lindelof H; Hammarsjo A; Voss U; Piticchio SG; Conner P; Papadogiannakis N; Batkovskyte D; Orellana L; Kvarnung M; Malmgren H; Robinson KL; Nordgren A; Lindstrand A; Nishimura G; Grigelioniene G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Batkovskyte D; Swolin-Eide D; Hammarsjo A; Saether KB; Thunstrom S; Lundin J; Eisfeldt J; Lindstrand A; Nordgren A; Astrom E; Grigelioniene G
Article: CLINICAL GENETICS. 2025;108(2):199-205
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency
Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
Article: JOURNAL OF CLINICAL MEDICINE. 2025;14(4):1307
Comorbidities, Endocrine Medications, and Mortality in Prader-Willi Syndrome-A Swedish Register Study
Giesecke J; Oskarsson A; Petersson M; Nordenvall AS; Tettamanti G; Nordgren A; Hoybye C
Article: MOVEMENT DISORDERS. 2025;40(4):672-682
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene
Paucar M; Li T; Bergendal A; Savitcheva I; Pourhamidi K; Laffita-Mesa JM; Nordgren A; Engvall M; Uhlen P; Lagerstedt-Robinson K; Svenningsson P
Article: HGG ADVANCES. 2025;6(1):100380
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan L; Silva A; Kleinendorst L; Rooney K; Haghshenas S; Lauffer P; Alanay Y; Bhai P; Brusco A; de Munnik S; de Vries BBA; Vega AD; Engelen M; Herkert JC; Hochstenbach R; Hopman S; Kant SG; Kira R; Kato M; Keren B; Kroes HY; Levy MA; Lock-Hock N; Maas SM; Mancini GMS; Marcelis C; Matsumoto N; Mizuguchi T; Mussa A; Mignot C; Narhi A; Nordgren A; Pfundt R; Polstra AM; Trajkova S; van Bever Y; van den Boogaard MJ; van der Smagt JJ; Barakat TS; Alders M; Mannens MMAM; Sadikovic B; van Haelst MM; Henneman P
Article: AMERICAN JOURNAL OF CASE REPORTS. 2024;25:e945715
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
Maya-Gonzalez C; De Stahl TD; Wessman S; Taylan F; Tesi B; Lagerstedt-Robinson K; Tettamanti G; Dukic M; Poluha A; Ljungman G; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2024;194(12):e63812
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
Maya-Gonzalez C; Delgado-Vega AM; Taylan F; Robinson KL; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; De Stahl TD; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;33(5):580-587
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
Kvarnung M; Pettersson M; Chun-on P; Rafati M; Mcreynolds LJ; Norberg A; Moura PL; Pesonen I; Chaireti R; Soderholm BG; Burlin J; Ryden J; Lindberg EH; Giri N; Savage SA; Agarwal S; Nordgren A; Tesi B
Article: GENOME RESEARCH. 2024;34(11):1785-1797
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
Bilgrav Saether K; Eisfeldt J; Bengtsson JD; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Ek M; Schuy J; Ameur A; Dai H; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Wincent J; Nordgren A; Carvalho CMB; Lindstrand A
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: SCIENTIFIC REPORTS. 2024;14(1):17583
Symptoms of autism in Williams syndrome: a transdiagnostic approach
Willfors C; Borg J; Kleberg JL; Hallman A; Van Der Poll M; Remnelius KL; Avdic HB; Bolte S; 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: 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
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: 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: 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: 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; Denomme-Pichon A-S; Matalonga L; Laurie S; Steyaert W; de Reuver R; Gilissen C; Kwint M; Pfundt R; Verloes A; Willemsen MAAP; de Vries BBA; Vitobello A; Kleefstra T; Vissers LELM
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: 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: 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: 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: 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; 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: 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: 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 & 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 & 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: 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 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: 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 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
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: 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: 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 & 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: 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: 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: 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: 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: 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
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: 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: 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
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: 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: 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: 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: 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; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie 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 & 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: 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: 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: 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 & 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: 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: 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: 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: 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: 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: 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; Borgstrom G; Ehrencrona H; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kerndrup G; Nordgren A; Palmqvist L; Johansson B
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: 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
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 & 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 & 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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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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Hillevi Lindelöf, 2020
Emeli Pontén, 2018
Benedicte Bang
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
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
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
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
Carolina Maya Gonzalez

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