Magnus Nordenskjöld

Publications
CV
Public outreach and news

Articles

Article: CLINICAL CANCER RESEARCH. 2024;30(13):2764-2771
Cell-Free Human Papillomavirus DNA Is a Sensitive Biomarker for Prognosis and for Early Detection of Relapse in Locally Advanced Cervical Cancer
Sivars L; Jylha C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjold M; Tham E; Hellman K
Article: NPJ PRECISION ONCOLOGY. 2024;8(1):44
Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm
Arthur C; Carlson L-M; Svoboda J; Sandvik U; Jylha C; Nordenskjold M; Holm S; Tham E
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2023;451:120707
Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders
Paucar M; Laffita-Mesa J; Niemela V; Malmgren H; Nennesmo I; Lagerstedt-Robinson K; Nordenskjold M; Svenningsson P
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: CANCERS. 2023;15(7):1972
Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma
Arthur C; Jylha C; de Stahl TD; Shamikh A; Sandgren J; Rosenquist R; Nordenskjold M; Harila A; Barbany G; Sandvik U; Tham E
Article: CANCERS. 2023;15(4):1160
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer
Wallander K; Haider Z; Jeggari A; Foroughi-Asl H; Gellerbring A; Lyander A; Chozhan A; Gyllensten OC; Haegglund M; Wirta V; Nordenskjoeld M; Lindblad M; Tham E
Article: GYNECOLOGIC ONCOLOGY. 2022;167(1):107-114
Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer
Sivars L; Hellman K; Guterstam YC; Holzhauser S; Nordenskjold M; Falconer H; Palsdottir K; Tham E
Article: FRONTIERS IN ONCOLOGY. 2022;12:899325
Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study
Arthur C; Rezayee F; Mogensen N; Saft L; Rosenquist R; Nordenskjold M; Harila-Saari A; Tham E; Barbany G
Article: PLOS ONE. 2022;17(2):e0264056
A retrospective two centre study of Birt-Hogg-Dube syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
Lagerstedt-Robinson K; Korberg IB; Tsiaprazis S; Bjorck E; Tham E; Poluha A; Pigg MH; Paulsson-Karlsson Y; Nordenskjold M; Johansson-Soller M; Aravidis C
Article: NATURE COMMUNICATIONS. 2021;12(1):6558
An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation
Sabatier P; Beusch CM; Saei AA; Aoun M; Moruzzi N; Coelho A; Leijten N; Nordenskjold M; Micke P; Maltseva D; Tonevitsky AG; Millischer V; Villaescusa JC; Kadekar S; Gaetani M; Altynbekova K; Kel A; Berggren P-O; Simonson O; Grinnemo K-H; Holmdahl R; Rodin S; Zubarev RA
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes
Sahlen P; Spalinskas R; Asad S; Das Mahapatra K; Hojer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Stahle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjold M; Taylan F; Bradley M; Tapia-Paez I
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: BRITISH JOURNAL OF HAEMATOLOGY. 2021;192(1):200-211
Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells
Khandagale A; Holmlund T; Entesarian M; Nilsson D; Kalwak K; Klaudel-Dreszler M; Carlsson G; Henter J-I; Nordenskjold M; Fadeel B
Article: PLOS ONE. 2021;16(2):e0245488
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients
Wallander K; Eisfeldt J; Lindblad M; Nilsson D; Billiau K; Foroughi H; Nordenskjold M; Lieden A; Tham E
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: PEDIATRIC BLOOD & CANCER. 2020;67(4):e28184
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
Torralba-Raga L; Tesi B; Chiang SCC; Schlums H; Nordenskjoeld M; Horne A; Henter J-I; Meeths M; Abdelhaleem M; Weitzman S; Bryceson Y
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: 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: CANCER. 2019;125(11):1848-1854
Haploinsufficiency of UNC13D increases the risk of lymphoma
Lofstedt A; Ahlm C; Tesi B; Bergdahl IA; Nordenskjold M; Bryceson YT; Henter J-I; Meeths 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: 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: PLOS ONE. 2019;14(1):e0210017
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth
Sahlin E; Green A; Gustavsson P; Lieden A; Nordenskjold M; Papadogiannakis N; Pettersson K; Nilsson D; Jonasson J; Iwarsson E
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: CEREBELLUM. 2018;17(4):465-476
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Paucar M; Bergendal A; Gustavsson P; Nordenskjold M; Laffita-Mesa J; Savitcheva I; Svenningsson P
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2018;142(1):317-321.e8
A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lympho-histiocytosis and normal pigmentation
Tesi B; Rascon J; Chiang SCC; Burnyte B; Lofstedt A; Fasth A; Heizmann M; Juozapaite S; Kiudeliene R; Kvedaraite E; Miseviciene V; Muleviciene A; Mueller M-L; Nordenskjold M; Matuzeviciene R; Samaitiene R; Speckmann C; Stankeviciene S; Zekas V; Voss M; Ehl S; Vaiciene-Magistris N; Henter J-I; Meeths M; Bryceson YT
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: 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: JOURNAL OF GENETIC COUNSELING. 2017;26(3):447-454
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden
Georgsson S; Sahlin E; Iwarsson M; Nordenskjold M; Gustavsson P; Iwarsson E
Article: PEDIATRIC DERMATOLOGY. 2017;34(3):e140-e141
Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis
Fernandez K; Asad S; Taylan F; Wahlgren C-F; Bilcha KD; Nordenskjold M; Winge MCG; Bradley M
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: 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: PLOS ONE. 2017;12(5):e0173565
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking
Khare S; Nick JA; Zhang Y; Galeano K; Butler B; Khoshbouei H; Rayaprolu S; Hathorn T; Ranum LPW; Smithson L; Golde TE; Paucar M; Morse R; Raff M; Simon J; Ld MNE; Wirdefeldt K; Rincon-Limas DE; Lewis J; Kaczmarek LK; Fernandez-Funez P; Nick HS; Waters MF
Article: FRONTIERS IN IMMUNOLOGY. 2017;8:426
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients
Chiang SCC; Wood SM; Tesi B; Akar HH; Al-Herz W; Ammann S; Belen FB; Caliskan U; Kaya Z; Lehmberg K; Patiroglu T; Tokgoz H; Unuvar A; Introne WJ; Henter J-I; Nordenskjold M; Ljunggren H-G; Meeths M; Ehl S; Krzewski K; Bryceson YT
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2016;30(11):1939-1941
The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians
Asad S; Winge MCG; Wahlgren C-F; Bilcha KD; Nordenskjold M; Taylan F; Bradley M
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: BLOOD. 2016;127(24):3026-3034
Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas
Georgiou K; Chen L; Berglund M; Ren W; de Miranda NFCC; Lisboa S; Fangazio M; Zhu S; Hou Y; Wu K; Fang W; Wang X; Meng B; Zhang L; Zeng Y; Bhagat G; Nordenskjold M; Sundstrom C; Enblad G; Dalla-Favera R; Zhang H; Teixeira MR; Pasqualucci L; Peng R; Pan-Hammarstrom Q
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(3):541-552
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman HAF; Willemsen MH; Fenckova M; Penn O; Hoischen A; Xiong B; Wang T; Hoekzema K; Vives L; Voge I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Wassink-Ruiter JSK; Stumpel C; Stevens SJC; Vles HS; Marcelis CM; van Bokhoven H; Cantagrel V; Colleaux L; Nicouleau M; Lyonnet S; Bernier RA; Gerdts J; Coe BP; Romano C; Alberti A; Grillo L; Scuderi C; Nordenskjold M; Kvarnung M; Guo H; Xia K; Piton A; Gerard B; Genevieve D; Delobel B; Lehalle D; Perrin L; Prieur F; Thevenon J; Gecz J; Shaw M; Pfundt R; Keren B; Jacquette A; Schenck A; Eichler EE; Kleefstra T
Article: PLOS ONE. 2016;11(5):e0156088
Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women
Sahlin E; Nordenskjold M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
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: GENOME MEDICINE. 2015;7:130
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi B; Lagerstedt-Robinson K; Chiang SCC; Ben Bdira E; Abboud M; Belen B; Devecioglu O; Fadoo Z; Yeoh AEJ; Erichsen HC; Mottonen M; Akar HH; Hastbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjold M; Bryceson YT
Article: PEDIATRIC BLOOD & CANCER. 2015;62(12):2094-2100
Spectrum of Atypical Clinical Presentations in Patients With Biallelic PRF1 Missense Mutations
Tesi B; Chiang SCC; El-Ghoneimy D; Hussein AA; Langenskiold C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjold M; Bryceson YT; Henter J-I; Meeths M
Article: KIDNEY INTERNATIONAL. 2015;88(5):1057-1069
Disruption of tubular FIcn expression as a mouse model for renal tumor induction
Chen J; Huang D; Rubera I; Futami K; Wang P; Zickert P; Khoo S-K; Dykema K; Zhao P; Petillo D; Cao B; Zhang Z; Si S; Schoen SR; Yang XJ; Zhou M; Xiao G-Q; Wu G; Nordenskjold M; Tauc M; Williams BO; Furge KA; Teh BL
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: GENOMICS. 2015;105(3):150-158
Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations
Karlsson K; Sahlin E; Iwarsson E; Westgren M; Nordenskjold M; Linnarsson S
Article: PLOS GENETICS. 2015;11(3):e1005076
Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance
Esparza-Gordillo J; Matanovic A; Marenholz I; Bauerfeind A; Rohde K; Nemat K; Lee-Kirsch M-A; Nordenskjold M; Winge MCG; Keil T; Krueger R; Lau S; Beyer K; Kalb B; Niggemann B; Huebner N; Cordell HJ; Bradley M; Lee Y-A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2015;29(1):174-177
Moisturizing treatment of patients with atopic dermatitis and ichthyosis vulgaris improves dry skin, but has a modest effect on gene expression regardless of FLG genotype
Hoppe T; Winge MCG; Bradley M; Nordenskjold M; Vahlquist A; Torma H; Berne B
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: 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: FRONTIERS IN IMMUNOLOGY. 2014;4:515
An N-terminal missense mutation in STX11 causative of FHLA abrogates syntaxin-11 binding to Munc18-2
Muller M-L; Chiang SCC; Meeths M; Tesi B; Entesarian M; Nilsson D; Wood SM; Nordenskjold M; Henter J-I; Naqvi A; Bryceson YT
Article: PLOS ONE. 2014;9(9):e107712
Characterization of Stem-Like Cells in Mucoepidermoid Tracheal Paediatric Tumor
Lim ML; Ooi BNS; Jungebluth P; Sjoqvist S; Hultman I; Lemon G; Gustafsson Y; Asmundsson J; Baiguera S; Douagi I; Gilevich I; Popova A; Haag JC; Rodriguez AB; Lim J; Lieden A; Nordenskjold M; Alici E; Baker D; Unger C; Luedde T; Vassiliev I; Inzunza J; Ahrlund-Richter L; Macchiarini P
Article: NATURE COMMUNICATIONS. 2014;5:3195
Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment
Rodin S; Antonsson L; Niaudet C; Simonson OE; Salmela E; Hansson EM; Domogatskaya A; Xiao Z; Damdimopoulou P; Sheikhi M; Inzunza J; Nilsson A-S; Baker D; Kuiper R; Sun Y; Blennow E; Nordenskjold M; Grinnemo K-H; Kere J; Betsholtz C; Hovatta O; Tryggvason K
Article: FETAL DIAGNOSIS AND THERAPY. 2014;36(4):326-332
Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases
Sahlin E; Gustavsson P; Lieden A; Papadogiannakis N; Bjareborn L; Pettersson K; Nordenskjold M; Iwarsson E
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: HUMAN MOLECULAR GENETICS. 2013;22(23):4841-4856
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis
Weidinger S; Willis-Owen SAG; Kamatani Y; Baurecht H; Morar N; Liang L; Edser P; Street T; Rodriguez E; O'Regan GM; Beattie P; Foelster-Holst R; Franke A; Novak N; Fahy CM; Winge MCG; Kabesch M; Illig T; Heath S; Soderhall C; Melen E; Pershagen G; Kere J; Bradley M; Lieden A; Nordenskjold M; Harper JI; Mclean WHI; Brown SJ; Cookson WOC; Lathrop GM; Irvine AD; Moffatt MF
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
Article: BLOOD. 2013;121(8):1345-1356
Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production
Chiang SCC; Theorell J; Entesarian M; Meeths M; Mastafa M; Al-Herz W; Frisk P; Gilmour KC; Ifversen M; Langenskiold C; Machaczka M; Naqvi A; Payne J; Perez-Martinez A; Sabel M; Unal E; Unal S; Winiarski J; Nordenskjold M; Ljunggren H-G; Henter J-I; Bryceson YT
Article: ACTA PAEDIATRICA. 2013;102(1):78-82
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
Carlsson G; Kristrom B; Nordenskjold M; Henter J-I; Fadeel B
Article: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2013;27(1):e124-e127
Lack of association between filaggrin gene mutations and onset of psoriasis in childhood
Winge MCG; Suneson J; Lysell J; Nikamo P; Lieden A; Nordenskjold M; Wahlgren CF; Bradley M; Stahle M
Article: ARCHIVES OF DERMATOLOGICAL RESEARCH. 2012;304(10):773-780
Characterization of EGFR and ErbB2 expression in atopic dermatitis patients
Saaf A; Pivarcsi A; Winge MCG; Wahlgren C-F; Homey B; Nordenskjold M; Tengvall-Linder M; Bradley M
Article: HUMAN REPRODUCTION. 2012;27(9):2843-2849
One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre
Kouru KH; Malmgren H; Nordenskjold M; Fridstrom M; Csemiczky G; Blennow E
Article: BRITISH JOURNAL OF DERMATOLOGY. 2012;167(3):514-522
X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments
Hoppe T; Winge MCG; Bradley M; Nordenskjold M; Vahlquist A; Berne B; Torma H
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2012;158(3):363-369
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
Carlsson G; Fasth A; Berglof E; Lagerstedt-Robinson K; Nordenskjold M; Palmblad J; Henter J-I; Fadeel B
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2012;167(2):181-187
Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumors
de Laat JM; Tham E; Pieterman CRC; Vriens MR; Dorresteijn JAN; Bots ML; Nordenskjold M; van der Luijt RB; Valk GD
Article: BEHAVIOR GENETICS. 2012;42(4):509-527
The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language
Anthoni H; Sucheston LE; Lewis BA; Tapia-Paez I; Fan X; Zucchelli M; Taipale M; Stein CM; Hokkanen M-E; Castren E; Pennington BF; Smith SD; Olson RK; Tomblin JB; Schulte-Koerne G; Noethen M; Schumacher J; Mueller-Myhsok B; Hoffmann P; Gilger JW; Hynd GW; Nopola-Hemmi J; Leppanen PHT; Lyytinen H; Schoumans J; Nordenskjold M; Spencer J; Stanic D; Boon WC; Simpson E; Makela S; Gustafsson J-A; Peyrard-Janvid M; Iyengar S; Kere J
Article: PLOS ONE. 2012;7(11):e49694
Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis
Lieden A; Winge MCG; Saaf A; Kockum I; Ekelund E; Rodriguez E; Foelster-Holst R; Franke A; Illig T; Tengvall-Linder M; Baurecht H; Weidinger S; Wahlgren C-F; Nordenskjold M; Bradley M
Article: BLOOD. 2011;118(22):5783-5793
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
Meeths M; Chiang SCC; Wood SM; Entesarian M; Schlums H; Bang B; Nordenskjold E; Bjorklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist B-M; Rajic L; Pfeifer S; Rosthoj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren H-G; Fadeel B; Nordenskjold M; Henter J-I; Bryceson YT
Article: BRITISH JOURNAL OF DERMATOLOGY. 2011;165(5):1074-1080
Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis
Winge MCG; Bilcha KD; Lieden A; Shibeshi D; Sandilands A; Wahlgren C-F; McLean WHI; Nordenskjold M; Bradley M
Article: JOURNAL OF CLINICAL INVESTIGATION. 2011;121(10):4043-4055
Detection of human cytomegalovirus in medulloblastomas reveals a potential therapeutic target
Baryawno N; Rahbar A; Wolmer-Solberg N; Taher C; Odeberg J; Darabi A; Khan Z; Sveinbjornsson B; Fuskevag O-M; Segerstrom L; Nordenskjold M; Siesjo P; Kogner P; Johnsen JI; Soderberg-Naucler C
Article: HUMAN MUTATION. 2011;32(8):921-929
Birt Hogg-Dube Syndrome-Associated FLCN Mutations Disrupt Protein Stability
Nahorski MS; Reiman A; Lim DHK; Nookala RK; Seabra L; Lu X; Fenton J; Boora U; Nordenskjold M; Latif F; Hurst LD; Maher ER
Article: LEUKEMIA. 2011;25(4):622-628
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial
Zachariadis V; Gauffin F; Kuchinskaya E; Heyman M; Schoumans J; Blennow E; Gustafsson B; Barbany G; Golovleva I; Ehrencrona H; Cavelier L; Palmqvist L; Lonnerholm G; Nordenskjold M; Johansson B; Forestier E; Nordgren A
Article: 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: 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: PEDIATRIC BLOOD & CANCER. 2011;56(3):444-451
Hematopoietic Stem Cell Transplantation in Severe Congenital Neutropenia
Carlsson G; Winiarski J; Ljungman P; Ringden O; Mattsson J; Nordenskjold M; Touw I; Henter J-I; Palmblad J; Fadeel B; Hagglund H
Article: CLINICAL GENETICS. 2011;79(2):147-157
High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
Wincent J; Anderlid B-M; Lagerberg M; Nordenskjold M; Schoumans J
Article: PLOS ONE. 2011;6(12):e28254
Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris
Winge MCG; Hoppe T; Berne B; Vahlquist A; Nordenskjold M; Bradley M; Torma H
Article: BMC MEDICAL GENOMICS. 2010;3:59
Birt-Hogg-Dube renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression
Klomp JA; Petillo D; Niemi NM; Dykema KJ; Chen J; Yang XJ; Saaf A; Zickert P; Aly M; Bergerheim U; Nordenskjold M; Gad S; Giraud S; Denoux Y; Yonneau L; Mejean A; Vasiliu V; Richard S; MacKeigan JP; Teh BT; Furge KA
Article: BLOOD. 2010;116(15):2635-2643
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
Meeths M; Entesarian M; Al-Herz W; Chiang SCC; Wood SM; Al-Ateeqi W; Almazan F; Boelens JJ; Hasle H; Ifversen M; Lund B; van den Berg JM; Gustafsson B; Hjelmqvist H; Nordenskjold M; Bryceson YT; Henter J-I
Article: MOLECULAR IMMUNOLOGY. 2010;47(14):2388-2396
The proteasome inhibitor bortezomib disrupts tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) expression and natural killer (NK) cell killing of TRAIL receptor-positive multiple myeloma cells
Feng X; Yan J; Wang Y; Zierath JR; Nordenskjold M; Henter J-I; Fadeel B; Zheng C
Article: PEDIATRIC BLOOD & CANCER. 2010;54(4):563-572
Clinical Presentation of Griscelli Syndrome Type 2 and Spectrum of RAB27A Mutations
Meeths M; Bryceson YT; Rudd E; Zheng C; Wood SM; Ramme K; Beutel K; Hasle H; Heilmann C; Hultenby K; Ljunggren H-G; Fadeel B; Nordenskjold M; Henter J-I
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2010;153B(1):280-285
Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
Bremer A; Giacobini M; Nordenskjold M; Brondum-Nielsen K; Mansouri M; Dahl N; Anderlid B; Schoumans J
Article: NEUROENDOCRINOLOGY. 2010;91(4):318-323
First Report on Metastasizing Small Bowel Carcinoids in First-Degree Relatives in Three Generations
Jarhult J; Landerholm K; Falkmer S; Nordenskjold M; Sundler F; Wierup N
Article: PEDIATRIC BLOOD & CANCER. 2009;53(6):1143-1146
Compound Heterozygous HAX1 Mutations in a Swedish Patient With Severe Congenital Neutropenia and No Neurodevelopmental Abnormalities
Carlsson G; Elinder G; Malmgren H; Trebinska A; Grzybowska E; Dahl N; Nordenskjold M; Fadeel B
Article: BLOOD. 2009;114(19):4117-4127
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
Wood SM; Meeths M; Chiang SCC; Bechensteen AG; Boelens JJ; Heilmann C; Horiuchi H; Rosthoj S; Rutynowska O; Winiarski J; Stow JL; Nordenskjold M; Henter J-I; Ljunggren H-G; Bryceson YT
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(5):358-362
An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Bremer A; Schoumans J; Nordenskjold M; Anderlid B-M; Giacobini M
Article: HAEMATOLOGICA. 2009;94(4):470-478
Proteasome inhibition induces apoptosis in primary human natural killer cells and suppresses NKp46-mediated cytotoxicity
Wang X; Ottosson A; Ji C; Feng X; Nordenskjoeld M; Henter J-I; Fadeel B; Zheng C
Article: ALLERGY. 2009;64(2):304-311
Cornulin, a marker of late epidermal differentiation, is down-regulated in eczema
Lieden A; Ekelund E; Kuo I-C; Kockum I; Huang C-H; Mallbris L; Lee SP; Seng LK; Chin GY; Wahlgren C-F; Palmer CNA; Bjoerksten B; Stahle M; Nordenskoeld M; Bradley M; Chua KY; D'Amato M
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;143(1):75-83
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
Horne A; Ramme KG; Rudd E; Zheng C; Wali Y; al-Lamki Z; Guergey A; Yalman N; Nordenskjold M; Henter J-I
Article: JOURNAL OF INTERNAL MEDICINE. 2008;264(4):388-400
Central nervous system involvement in severe congenital neutropenia:: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
Carlsson G; van't Hooft I; Melin M; Entesarian M; Laurencikas E; Nennesmo I; Trebinska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjold M; Fadeel B; Henter J-I
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;142(3):469-479
Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells
Zhang S; Ma D; Wang X; Celkan T; Nordenskjoeld M; Henter J-I; Fadeel B; Zheng C
Article: PEDIATRIC BLOOD & CANCER. 2008;50(5):1067-1069
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis
Ma D; Rudd E; Edner J; Gavhed S; Ramme KG; Fadeel B; Nordenskjoeld M; Henter J-I; Zheng C
Article: HUMAN MUTATION. 2008;29(3):398-408
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 KBAC-clone-based array
de Stahl TD; Sandgren J; Piotrowski A; Nord H; Andersson R; Menzel U; Bogdan A; Thuresson A-C; Poplawski A; von Tell D; Hansson CM; Elshafie AI; ElGhazali G; Imreh S; Nordenskjold M; Upadhyaya M; Komorowski J; Bruder CEG; Dumanski JP
Article: JOURNAL OF MEDICAL GENETICS. 2008;45(3):134-141
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gurgey A; Hellebostad M; Bechensteen AG; Ljunggren H-G; Fadeel B; Nordenskjold M; Henter J-I
Article: PLOS ONE. 2008;3(12):e4017
Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes
Saaf AM; Tengvall-Linder M; Chang HY; Adler AS; Wahlgren C-F; Scheynius A; Nordenskjold M; Bradley M
Article: BLOOD. 2007;110(6):1906-1915
Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
Bryceson YT; Rudd E; Zheng C; Edner J; Ma D; Wood SM; Bechensteen AG; Boelens JJ; Celkan T; Farah RA; Hultenby K; Winiarski J; Roche PA; Nordenskjold M; Henter J-I; Long EO; Ljunggren H-G
Article: LAKARTIDNINGEN. 2007;104(36):2507-2508
[QF-PCR or karyotyping in amniocentesis most often not the woman's decision. Difficult to give basis for an informed choice].
Everhov AH; Nordenskjöld M; Björklund U; Persson E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2007;92(9):3389-3395
Clinical testing for mutations in the MEN1 gene in Sweden:: A report on 200 unrelated cases
Tham E; Grandell U; Lindgren E; Toss G; Skogseid B; Nordenskjold M
Article: NATURE GENETICS. 2007;39(8):966-968
Bi-orientation of achiasmatic chromosomes in meiosis I oocytes contributes to aneuploidy in mice
Kouznetsova A; Lister L; Nordenskjold M; Herbert M; Hoog C
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2007;50(3):237-241
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjold M; Anneren G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2007;144B(3):351-354
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
Zhou X-L; Giacobini M; Anderlid B-M; Anckarsater H; Omrani D; Gillberg C; Nordenskjold M; Lindblom A
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2007;137(2):166-169
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia
Karlsson J; Carlsson G; Ramme KG; Hagglund H; Nordenskjold M; Henter J-I; Palmblad J; Putsep K; Andersson M
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2007;353(3):571-575
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden
Melin M; Entesarian M; Carlsson G; Garwicz D; Klein C; Fadeel B; Nordenskjold M; Palmblad J; Henter JI; Dahl N
Article: EXPERIMENTAL CELL RESEARCH. 2007;313(2):404-414
Phosphoinositide 3-kinase regulates a subset of interferon-alpha-stimulated genes
Hjortsberg L; Lindvall C; Corcoran M; Arulampalam V; Chan D; Thyrell L; Nordenskjold M; Grander D; Pokrovskaja K
Article: LAKARTIDNINGEN. 2006;103(50-52):4022-4027
[Kostmann's syndrome largely elucidated--by Swedish research. 50 years since Rolf Kostmann's pioneering work on severe congenital neutropenia].
Carlsson G; Garwicz D; Nordenskjöld M; Fadeel B; Palmblad J; Henter J-I
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2006;78(6):1060-1065
Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis
Ekelund E; Saaf A; Tengvall-Linder M; Melen E; Link J; Barker J; Reynolds NJ; Meggitt SJ; Kere J; Wahlgren C-F; Pershagen G; Wickman M; Nordenskjold M; Kockum I; Bradley M
Article: HAEMATOLOGICA. 2006;91(5):589-595
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden
Carlsson G; Aprikyan AAG; Ericson KG; Stein S; Makaryan V; Dale DC; Nordenskjold M; Fadeel B; Palmblad J; Hentera J-I
Article: ALLERGY. 2006;61(5):617-621
Susceptibility loci for atopic dermatitis on chromosome 21 in a Swedish population
Bu LM; Bradley M; Söderhäll C; Wahlgren CF; Kockum I; Nordenskjold M
Article: INTERNATIONAL JOURNAL OF CANCER. 2006;118(8):2092-2097
Mantle cell lymphomas acquire increased expression of CCL4, CCL5 and 4-1BB-L implicated in cell survival
Ek S; Björck E; Högerkorp CM; Nordenskjöld M; Porwit-MacDonald A; Borrebaeck CAK
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(4):e14
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis:: association with disease-free remissions and haematopoietic malignancies -: art. no. e14
Rudd E; Ericson KG; Zheng C; Uysal Z; Özkan A; Gürgey A; Fadeel B; Nordenskjöld M; Henter JI
Article: INTERNATIONAL JOURNAL OF ONCOLOGY. 2006;28(3):605-617
Combined spectral karyotyping, comparative genomic hybridization, and in vitro apoptyping of a panel of Burkitt's lymphoma-derived B cell lines reveals an unexpected complexity of chromosomal aberrations and a recurrence of specific abnormalities in chemoresistant cell lines
Karpova MB; Schoumans J; Blennow E; Ernberg I; Henter JI; Smirnov AF; Nordenskjöld M; Fadeel B
Article: CLINICAL AND EXPERIMENTAL ALLERGY. 2006;36(2):204-210
Genome-wide linkage analysis of allergic rhinoconjunctivitis in a Swedish population
Bu LM; Bradley M; Söderhäll C; Wahlgren CF; Kockum I; Nordenskjöld M
Article: HUMAN MUTATION. 2005;26(6):540-549
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
Buckley PG; Mantripragada KK; de Ståhl TD; Piotrowski A; Hansson CM; Kiss H; Vetrie D; Ernberg IT; Nordenskjöld M; Bolund L; Sainio M; Rouleau GA; Niimura M; Wallace AJ; Evans DGR; Grigelionis G; Menzel U; Dumanski JE
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(9):699-705
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid BM; Nordenskjöld M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(3):290-300
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to ∼650 kb
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg Å; Nordenskjöld M; Anderlid BM
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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;134A(3):254-258
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)
Schoumans J; Sanner G; Nordenskjöld M; Anderlid BM
Article: BLOOD. 2005;105(7):2908-2915
High expression of cyclin B1 predicts a favorable outcome in patients with follicular lymphoma
Björck E; Ek S; Landgren O; Jerkeman M; Ehinger M; Björkholm M; Borrebaeck CAK; Porwit-MacDonald A; Nordenskjöld M
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: HAEMATOLOGICA. 2004;89(9):1072-1081
Combined genetic and transcriptional profiling of acute myeloid leukemia with normal and complex karyotypes
Lindvall C; Furge K; Björkholm M; Guo X; Haab B; Blennow E; Nordenskjöld M; Teh BT
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2004;128A(4):340-351
Subtelomeric deletions of chromosome 9q:: A novel microdeletion syndrome
Stewart DR; Huang A; Faravelli F; Anderlid BM; Medne L; Ciprero K; Kaur M; Rossi E; Tenconi R; Nordenskjöld M; Gripp KW; Nicholson L; Meschino WS; Capua E; Quarrell OWJ; Flint J; Irons M; Giampietro PF; Schowalter DB; Zaleski CA; Malacarne M; Zackai EH; Spinner NB; Krantz ID
Article: HAEMATOLOGICA. 2004;89(6):686-695
Increased expression of Ki-67 in mantle cell lymphoma is associated with de-regulation of several cell cycle regulatory components, as identified by global gene expression analysis
Ek S; Björck E; Porwit-MacDonald A; Nordenskjöld M; Borrebaeck CAK
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2004;12(6):447-454
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
Schoumans J; Nielsen K; Jeppesen I; Anderlid BM; Blennow E; Brondum-Nielsen K; Nordenskjöld M
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(3):198-202
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
Schoumans J; Anderlid BM; Blennow E; Teh BT; Nordenskjöld M
Article: CANCER RESEARCH. 2003;63(15):4583-4587
Inactivation of BHD in sporadic renal tumors
Khoo SK; Kahnoski K; Sugimura J; Petillo D; Chen JD; Shockley K; Ludlow J; Knapp R; Giraud S; Richard S; Nordenskjöld M; Teh BT
Article: LEUKEMIA & LYMPHOMA. 2003;44(7):1229-1234
Molecular cytogenetic approach to the diagnosis of splenic lymphoma:: A case report of blastoid mantle cell lymphoma
Björck E; Landgren O; Schoumans J; Christensson B; Björkholm M; MacDonald AP; Nordenskjöld M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2003;73(1):198-204
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13
Rahman N; Dunstan M; Teare MD; Hanks S; Douglas J; Coleman K; Bottomly WE; Campbell ME; Berglund B; Nordenskjöld M; Forssell B; Burrows N; Lunt P; Young I; Williams N; Bignell GR; Futreal PA; Pope FM
Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2003;11(4):529-533
Difference between Swedish and Japanese men in the association between AR CAG repeats and prostate cancer suggesting a susceptibility-modifying locus overlapping the androgen receptor gene
Li CD; Grönberg H; Matsuyama H; Weber G; Nordenskjöld M; Naito K; Bergh A; Bergerheim U; Damber JE; Larsson C; Ekman P
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2003;11(1):89-92
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
Anderlid BM; Schoumans J; Hallqvist Å; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Article: HUMAN GENETICS. 2003;112(1):98-99
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
Ericson KG; Fadeel B; Andersson M; Gudmundsson GH; Gürgey A; Yalman N; Janka G; Nordenskjöld M; Henter JI
Article: JOURNAL OF MEDICAL GENETICS. 2002;39(12):906-912
Clinical and genetic studies of Birt-Hogg-Dube syndrome
Khoo SK; Giraud S; Kahnoski K; Chen J; Motorna O; Nickolov R; Binet O; Lambert D; Friedel J; Lévy R; Ferlicot S; Wolkenstein P; Hammel P; Bergerheim U; Hedblad MA; Bradley M; Teh BT; Nordenskjöld M; Richard S
Article: BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY. 2002;16(5):629-643
Prenatal diagnosis:: molecular genetics and cytogenetics
Bui TH; Blennow E; Nordenskjöld M
Article: CLINICAL AND EXPERIMENTAL ALLERGY. 2002;32(8):1199-1202
Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor alpha;: regions in Swedish atopic dermatitis families
Söderhäll C; Bradley M; Kockum I; Luthman H; Wahlgren CF; Nordenskjöld M
Article: HUMAN MOLECULAR GENETICS. 2002;11(13):1539-1548
Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17 and 18 in a Swedish population
Bradley M; Söderhäll C; Luthman H; Wahlgren CF; Kockum I; Nordenskjöld M
Article: MOLECULAR HUMAN REPRODUCTION. 2002;8(5):502-510
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations
Malmgren H; Sahlén S; Inzunza J; Aho M; Rosenlund B; Fridström M; Hovatta O; Ährlund-Richter L; Nordenskjöld M; Blennow E
Article: HUMAN GENETICS. 2002;110(5):439-443
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Article: AIDS RESEARCH AND HUMAN RETROVIRUSES. 2002;18(5):383-390
Simian AIDS-related lymphoma growth in severe combined immunodeficiency mice is independent of karyotypic abnormalities or Bcl-6 mutations
Castaños-Vélez E; Heiden T; Lindvall C; Capello D; Sandlund A; Imreh S; Blennow E; Andersson LC; Gaidano G; Nordenskjöld M; Biberfeld P
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2002;107(4):275-284
Subtelomeric rearrangements detected in patients with idiopathic mental retardation
Anderlid BM; Schoumans J; Annerén G; Sahlén S; Kyllerman M; Vujic M; Hagberg B; Blennow E; Nordenskjöld M
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: ACTA DERMATO-VENEREOLOGICA. 2001;81(5):340-342
The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis
Bradley M; Söderhäll C; Wahlgren CF; Luthman H; Nordenskjöld M; Kockum I
Article: HUMAN GENETICS. 2001;109(5):551-558
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson SA; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson N; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Article: HAEMATOLOGICA. 2001;86(11):1158-1164
Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements
Lindvall C; Nordenskjöld M; Porwit A; Björkholm 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: PRENATAL DIAGNOSIS. 2001;21(9):781-787
Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities
Fridström M; Ährlund-Richter L; Iwarsson E; Malmgren H; Inzunza J; Rosenlund B; Sjöblom P; Nordenskjöld M; Blennow E; Hovatta O
Article: ONCOGENE. 2001;20(37):5239-5242
Birt-Hogg-Dube syndrome:: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2
Khoo SK; Bradley M; Wong FK; Hedblad MA; Nordenskjöld M; Teh BT
Article: HUMAN GENETICS. 2001;109(2):129-135
Linkage and association to candidate regions in Swedish atopic dermatitis families
Söderhäll C; Bradley M; Kockum I; Wahlgren CF; Luthman H; Nordenskjöld M
Article: LAKARTIDNINGEN. 2001;98(25):3024-3028
[Hereditary thyroid cancer can be cured by prophylactic surgery].
Wallin G; Bondesson AG; Farnebo LO; Hallengren B; Hamberger B; Jansson S; Nilsson O; Nordenskjöld M; Smeds S; Svensson KA; Wihlborg O; Zedenius J
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(3):590-597
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis
Ericson KG; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler RM; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter JI
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047
Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers
Iwarsson E; Malmgren H; Inzunza J; Ährlund-Richter L; Sjöblom P; Rosenlund B; Fridström M; Hovatta O; Nordenskjöld M; Blennow E
Article: CANCER RESEARCH. 2000;60(22):6230-6235
Frequent amplification of the Telomerase Reverse Transcriptase gene in human tumors
Zhang AJ; Zheng CY; Lindvall C; Hou M; Ekedahl J; Lewensohn R; Yan ZQ; Yang XY; Henriksson M; Blennow E; Nordenskjöld M; Zetterberg A; Björkholm M; Gruber A; Xu DW
Article: PRENATAL DIAGNOSIS. 2000;20(10):828-831
Early prenatal diagnosis of the ICF syndrome
Björck EJ; Bui TH; Wijmenga C; Grandell U; Nordenskjöld M
Article: SEMINARS IN CANCER BIOLOGY. 2000;10(4):251-254
The biology of inherited cancer
Lindblom A; Nordenskjöld M
Article: ACTA DERMATO-VENEREOLOGICA. 2000;80(2):106-110
Characterization by phenotype of families with atopic dermatitis
Bradley M; Kockum I; Söderhäll C; van Hage-Hamsten M; Luthman H; Nordenskjöld M; Wahlgren CF
Article: LAKARTIDNINGEN. 2000;97(6):548-549
[The genome project in its final phase: It will soon be possible to explain many of the brain diseases].
Nordenskjöld M
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: JOURNAL OF IMMUNOLOGY. 1999;163(4):2236-2242
A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency:: Evidence from meiotic mapping of 83 multiple-case families
Vorechovsky I; Blennow E; Nordenskjöld M; Webster ADB; Hammarström L
Article: HUMAN GENETICS. 1999;104(5):376-382
A high degree of aneuploidy in frozen-thawed human preimplantation embryos
Iwarsson E; Lundqvist M; Inzunza J; Ährlund-Richter L; Sjöblom P; Lundkvist Ö; Simberg N; Nordenskjöld M; Blennow E
Article: CANCER GENETICS. 1999;111(1):32-36
Characterization of drug-resistant cell lines by comparative genomic hybridization
Carlson KM; Gruber A; Liliemark E; Larsson R; Nordenskjöld M
Article: GENES CHROMOSOMES & CANCER. 1999;24(3):175-182
Distinct deleted regions on chromosome segment 16q23-24 associated with metastases in prostate cancer
Li CD; Berx G; Larsson C; Auer G; Aspenblad U; Pan Y; Sundelin B; Ekman P; Nordenskjöld M; van Roy F; Bergerheim USR
Article: ACTA ONCOLOGICA. 1999;38(4):439-447
Hereditary cancer
Lindblom A; Nordenskjöld M
Article: PRENATAL DIAGNOSIS. 1998;18(13):1381-1388
Application of single-needle blastomere biopsy in human preimplantation genetic diagnosis
Inzunza J; Iwarsson E; Fridström M; Rosenlund B; Sjöblom P; Hillensjö T; Blennow E; Jones B; Nordenskjöld M; Ährlund-Richter L
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(9):871-875
Preimplantation genetic diagnosis of DiGeorge syndrome
Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridstrom M; Rosenlund B; Hillensjo T; Sjoblom P; Nordenskjold M; Blennow E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1998;83(8):2621-2626
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
Teh BT; Kytölä S; Farnebo F; Bergman L; Wong FK; Weber G; Hayward N; Larsson C; Skogseid B; Beckers A; Phelan C; Edwards M; Epstein M; Alford F; Hurley D; Grimmond S; Silins G; Walters M; Stewart C; Cardinal J; Khodaei S; Parente F; Tranebjaerg L; Jorde R; Menon J; Khir A; Tan TT; Chan SP; Zaini A; Khalid BAK; Sandelin K; Thompson N; Brandi ML; Warth M; Stock J; Leisti J; Cameron D; Shepherd JJ; Öberg K; Nordenskjöld M; Salmela P
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(7):719-723
Preimplantation genetic diagnosis of a large pericentric inversion of chromosome 5
Iwarsson E; Ahrlund-Richter L; Inzunza J; Rosenlund B; Fridstrom M; Hillensjo T; Sjoblom P; Nordenskjold M; Blennow E
Article: HUMAN MUTATION. 1998;Suppl 1:S31-S33
Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
Li CD; Weber G; Ekman P; Lagercrantz J; Norlen BJ; Akerstrom G; Nordenskjold M; Bergerheim USR
Article: GENES CHROMOSOMES & CANCER. 1997;20(4):419-424
1p and 3p deletions in meningiomas without detectable aberrations or chromosome 22 identified by comparative genomic hybridization
Carlson KM; Bruder C; Nordenskjold M; Dumanski JP
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: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1997;82(12):4258-4265
Human estrogen receptor β-gene structure, chromosomal localization, and expression pattern
Enmark E; Pelto-Huikko M; Grandien K; Lagercrantz S; Lagercrantz J; Fried G; Nordenskjöld M; Gustafsson J
Article: HUMAN GENETICS. 1997;101(1):51-55
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
Tannergard P; Liu T; Weger A; Nordenskjold M; Lindblom A
Article: LEUKEMIA. 1997;11(4):594-598
Expression of LAZ3/BCL6 in follicular center (FC) B cells of reactive lymph nodes and FC-derived non-Hodgkin lymphomas
BajalicaLagercrantz S; Piehl F; Lagercrantz J; Lindahl J; Weber G; Kerckeart JP; PorwitMacDonald A; Nordenskjold M
Article: HUMAN GENETICS. 1996;99(1):130-132
Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1
Weber G; Grimmond S; Lagercrantz J; Friedman E; Phelan C; Carson E; Hayward N; Jacobovitz O; Nordenskjold M; Larsson C
Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 1996;276(19):1575-1579
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2 - International RET mutation consortium analysis
Eng C; Clayton D; Schuffenecker I; Lenoir G; Cote G; Gagel RF; vanAmstel HKP; Lips CJM; Nishisho I; Takai SI; Marsh DJ; Robinson BG; FrankRaue K; Raue F; Xue FY; Noll WW; Romei C; Pacini F; Fink M; Niederle B; Zedenius J; Nordenskjold M; Komminoth P; Hendy GN; Gharib H; Thibodeau SN; Lacroix A; Frilling A; Ponder BAJ; Mulligan LM
Article: CANCER GENETICS. 1996;90(2):102-105
Duplication of 2q31-qter as a sole aberration in a case of non-Hodgkin's lymphoma
BajalicaLagercrantz S; Pedersen NT; Sorensen AG; Nordenskjold M
Article: HUMAN GENETICS. 1996;98(2):185-188
Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gs alpha gene
DeMarco L; Stratakis CA; Boson WL; Jakbovitz O; Carson E; Andrade LM; Amaral VF; Rocha JL; Choursos GP; Nordenskjold M; Friedman E
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1996;223(2):335-340
Sequence and expression of the mouse homologue to human phospholipase C beta 3 neighboring gene
Lagercrantz J; Kedra D; Carson E; Nordenskjold M; Dumanski JP; Weber G; Piehl F
Article: CHROMOSOME RESEARCH. 1996;4(4):310-313
Mapping of a new MAP kinase activated protein kinase gene (3PK) to human chromosome band 3p21.2 and ordering of 3PK and two cosmid markers in the 3p22-p21 tumour-suppressor region by two-colour fluorescence in situ hybridization
Szeles A; BajalicaLagercrantz S; Lindblom A; Lushnikova T; Kashuba VI; Imreh S; Nordenskjold M; Klein G; Zabarovsky ER
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1996;220(3):922-928
Characterization of the murine VEGF-related factor gene
Townson S; Lagercrantz J; Grimmond S; Silins G; Nordenskjold M; Weber G; Hayward N
Article: LAKARTIDNINGEN. 1996;93(10):908-910
[Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law].
Lindblom A; Nordenskjöld M
Article: GENOME RESEARCH. 1996;6(2):124-131
Cloning and characterization of a novel human gene related to vascular endothelial growth factor
Grimmond S; Lagercrantz J; Drinkwater C; Silins G; Townson S; Pollock P; Gotley D; Carson E; Rakar S; Nordenskjold M; Ward L; Hayward N; Weber G
Article: GENOMICS. 1996;31(3):380-384
Isolation and characterization of a novel gene close to the human phosphoinositide-specific phospholipase C beta 3 gene on chromosomal region 11q13
Lagercrantz J; Carson E; Larsson C; Nordenskjold M; Weber G
Article: NEUROREPORT. 1995;6(18):2542-2544
Expression of the phosphoinositide-specific phospholipase C beta 3 gene in the rat
Lagercrantz J; Piehl F; Nordenskjold M; Larsson C; Weber G
Article: CANCER RESEARCH. 1995;55(24):6092-6096
MUTATION SCREENING IN THE HMLH1 GENE IN SWEDISH HEREDITARY NONPOLYPOSIS COLON-CANCER FAMILIES
TANNERGARD P; LIPFORD JR; KOLODNER R; FRODIN JE; NORDENSKJOLD M; LINDBLOM A
Article: CANCER GENETICS. 1995;84(1):56-59
Analysis of microsatellite repeats in pediatric brain tumors
Amariglio N; Friedman E; Mor O; Stiebel H; Phelan C; Collins P; Nordenskjold M; BrokSimoni F; Rechavi G
Article: JOURNAL OF INTERNAL MEDICINE. 1995;238(3):245-248
CANDIDATE GENES FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
LAGERCRANTZ J; LARSSON C; GRIMMOND S; SKOGSEID B; GOBL A; FRIEDMAN E; CARSON E; PHELAN C; OBERG K; NORDENSKJOLD M; HAYWARD NK; WEBER G
Article: GENES CHROMOSOMES & CANCER. 1995;13(1):34-39
CHARACTERIZATION OF ADD(I)(P36) IN NON-HODGKIN LYMPHOMAS BY FLUORESCENCE IN-SITU HYBRIDIZATION
BAJALICA S; BRONDUMNIELSEN K; SORENSEN AG; PEDERSEN NT; KRISTOFFERSSON U; AKERMAN M; ANDERSON M; PISA P; NORDENSKJOLD M
Article: GENOMICS. 1995;26(3):467-472
GENOMIC ORGANIZATION AND COMPLETE CDNA SEQUENCE OF THE HUMAN PHOSPHOINOSITIDE-SPECIFIC PHOSPHOLIPASE-C BETA-3 GENE (PLCB3)
LAGERCRANTZ J; CARSON E; PHELAN C; GRIMMOND S; ROSEN A; DARE E; NORDENSKJOLD M; HAYWARD NK; LARSSON C; WEBER G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1995;55(1):85-94
50 PROBANDS WITH EXTRA STRUCTURALLY ABNORMAL CHROMOSOMES CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION
BLENNOW E; NIELSEN KB; TELENIUS H; CARTER NP; KRISTOFFERSSON U; HOLMBERG E; GILLBERG C; NORDENSKJOLD M
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Book: 2024
Genetiska sjukdomar
Review: ACTA PAEDIATRICA. 2021;110(11):2912-2920
Kostmann disease and other forms of severe congenital neutropenia
Fadeel B; Garwicz D; Carlsson G; Sandstedt B; Nordenskjold M
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Review: JOURNAL OF INTERNAL MEDICINE. 2019;286(2):118-136
Cell-free tumour DNA testing for early detection of cancer - a potential future tool
Barbany G; Arthur C; Lieden A; Nordenskjold M; Rosenquist R; Tesi B; Wallander K; Tham E
Editorial comment: ACTA DERMATO-VENEREOLOGICA. 2019;99(1):101-102
Evaluation of Single Nucleotide Variants in Ethiopian Patients with Atopic Dermatitis
Asad S; Tapia-Paez I; Montes AM; Wahlgren C-F; Bilcha KD; Nordenskjold M; Bradley M
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170(1):266-269
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu
Hammarsjo A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedren S; Nordenskjold M; Nishimura G; Grigelioniene G
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;136(2):507-9.e19
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
Taylan F; Nilsson D; Asad S; Lieden A; Wahlgren C-F; Winge MCG; Bilcha KD; Nordenskjold M; Bradley M
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;135(6):1638-1641
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
Tesi B; Sieni E; Neves C; Romano F; Cetica V; Cordeiro AI; Chiang S; Schlums H; Galli L; Avenali S; Tondo A; Canessa C; Henter J-I; Nordenskjold M; Hsu AP; Holland SM; Neves JE; Azzari C; Bryceson YT
Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2014;134(1):226-228
Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies
Borte S; Meeths M; Liebscher I; Krist K; Nordenskjold M; Hammarstrom L; von Dobeln U; Henter J-I; Bryceson YT
Letter: LEUKEMIA. 2014;28(1):196-198
Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization
Zachariadis V; Schoumans J; Ofverholm I; Barbany G; Halvardsson E; Forestier E; Johansson B; Nordenskjold M; Nordgren A
Letter: LEUKEMIA. 2013;27(9):1936-1939
Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols
Ofverholm I; Tran AN; Heyman M; Zachariadis V; Nordenskjold M; Nordgren A; Barbany G
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2013;162(3):415-418
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3
Entesarian M; Chiang SCC; Schlums H; Meeths M; Chan M-Y; Mya S-N; Soh S-Y; Nordenskjold M; Henter J-I; Bryceson YT
Letter: ACTA DERMATO-VENEREOLOGICA. 2013;93(3):366-367
Are BIC (miR-155) Polymorphisms Associated with Eczema Susceptibility?
Saaf A; Kockum I; Wahlgren C-F; Xu N; Sonkoly E; Stahle M; Nordenskjold M; Bradley M; Pivarcsi A
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
Zachariadis V; Schoumans J; Barbany G; Heyman M; Forestier E; Johansson B; Nordenskjold M; Nordgren A
Review: LAKARTIDNINGEN. 2011;108(50):2657-2659
[Birth-Hogg-Dube syndrome--a neglected condition that increases the risk of kidney cancer and pneumothorax].
Bradley M; Hedblad M-A; Björck E; Nordenskjöld M
Letter: JOURNAL OF DERMATOLOGICAL SCIENCE. 2011;63(1):62-64
Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis
Winge MCG; Hoppe T; Lieden A; Nordenskjold M; Vahlquist A; Wahlgren C-F; Torma H; Bradley M; Berne B
Letter: LEUKEMIA. 2011;25(5):868-872
HAX-1 expression in human B lymphoma
Kwiecinska A; Ottosson-Wadlund A; Ceder R; Grafstrom RC; Bjorck E; Nordenskjold M; Porwit A; Fadeel B
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: LANCET ONCOLOGY. 2009;10(12):1199-1206
Birt-Hogg-Dube syndrome: diagnosis and management
Menko FH; van Steensel MAM; Giraud S; Friis-Hansen L; Richard S; Ungari S; Nordenskjold M; Hansen TVO; Solly J; Maher ER
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2009;147(4):587-590
Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy
Lunden L; Boxhammer S; Carlsson G; Ellstrom K-G; Nordenskjold M; Lagerstedt-Robinson K; Fadeel B
Letter: LEUKEMIA. 2009;23(3):622-625
Survivin expression in the bone marrow of patients with severe congenital neutropenia
Carlsson G; Boxhammer S; Garwicz D; Henter JI; Palmblad J; Nordenskjold M; Porwit A; Fadeel B
Corrigendum: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2009;106(14):6023
Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome (vol 106, pg 468, 2008)
Chan C-B; Abe M; Hashimoto N; Hao C; Williams IR; Liu X; Nakao S; Yamamoto A; Zheng C; Henter J-I; Meeths M; Nordenskjold M; Li S-Y; Hara-Nishimura I; Asano M; Ye K
Review: ACTA PAEDIATRICA. 2007;96(6):813-819
Kostmann syndrome or infantile genetic agranulocytosis, part two:: understanding the underlying genetic defects in severe congenital neutropenia
Carlsson G; Melin M; Dahl N; Ramme KG; Nordenskjold M; Palmblad J; Henter J-I; Fadeel B
Letter: LEUKEMIA. 2007;21(6):1327-1330
Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification:: the result of telomere dysfunction and breakage/fusion/breakage cycles?
Kuchinskaya E; Nordgren A; Heyman M; Schoumans J; Corcoran M; Staaf J; Borg A; Soderhall S; Grander D; Nordenskjold M; Blennow E
Review: ACTA PAEDIATRICA. 2006;95(12):1526-1532
Kostmann syndrome or infantile genetic agranulocytosis, part one:: Celebrating 50 years of clinical and basic research on severe congenital neutropenia
Carlsson G; Andersson M; Putsep K; Garwicz D; Nordenskjold M; Henter J-I; Palmblad J; Fadeel B
Letter: CLINICAL GENETICS. 2006;69(5):441-443
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities
Gustavsson P; Schoumans J; Staaf J; Jönsson G; Carlsson F; Kristoffersson U; Borg A; Nordenskjöld M; Dahl N
Letter: LEUKEMIA. 2005;19(1):159-161
Raji revisited:: cytogenetics of the original Burkitt's lymphoma cell line
Karpova MB; Schoumans J; Ernberg I; Henter JI; Nordenskjöld M; Fadeel B
Published conference paper: CANCER RESEARCH. 2003;63(8):1743-1747
Molecular characterization of human telomerase reverse transcriptase-immortalized human fibroblasts by gene expression profiling:: Activation of the Epiregulin gene
Lindvall C; Hou M; Komurasaki T; Zheng CY; Henriksson M; Sedivy JM; Björkholm M; Teh BT; Nordenskjöld M; Xu DW
Review: SEMINARS IN CANCER BIOLOGY. 2000;10(4):299-312
Multiple endocrine neoplasia type 1
Wong FK; Burgess J; Nordenskjöld M; Larsson C; Teh BT
Review: ANTICANCER RESEARCH. 1999;19(6A):4715-4728
Tumor suppressor genes (TSG)
Teh BT; Larsson C; Nordenskjöld M
Review: LAKARTIDNINGEN. 1999;96(32-33):3392-3396
[Identification of cancer genes has made the testing of predisposition possible. Genetic counseling and mutation screening can result in new therapeutic methods].
Nordenskjöld M
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
Letter: AMERICAN JOURNAL OF HUMAN GENETICS. 1998;63(5):1544-1549
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors
Teh BT; Esapa CT; Houlston R; Grandell U; Farnebo F; Nordenskjöld M; Pearce CJ; Carmichael D; Larsson C; Harris PE
Review: LAKARTIDNINGEN. 1997;94(35):2919-2922
[Preimplantation genetic diagnosis. An alternative to traditional prenatal diagnosis].
Iwarsson E; Blennow ES; Anvret M; Nordenskjöld M; Inzunza J; Ahrlund-Richter L; Pousette A; Hillensjó T; Fridström M; Rosenlund B; Sjöblom P
Letter: EUROPEAN JOURNAL OF HAEMATOLOGY. 1996;56(5):323-325
Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) after treatment with cyclophosphamide, alpha-interferon and betamethasone in a patient with multiple myeloma
Bjorck E; Samuelsson J
Letter: NATURE MEDICINE. 1995;1(11):1104
FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES
TANNERGARD P; NORDENSKJOLD M; LINDBLOM A
Other: HUMAN GENETICS. 1995;95(4):455-458
EXCLUSION OF THE 13-KDA RAPAMYCIN BINDING-PROTEIN GENE (FKBP2) AS A CANDIDATE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
GRIMMOND S; WEBER G; LARSSON C; WALTERS M; TEH B; SHEPHERD J; NORDENSKJOLD M; HAYWARD N
Addendum: NATURE MEDICINE. 1995;1(12):1319
FINNISH MUTATIONS IN SWEDISH HNPCC FAMILIES (VOL 1, PG 1104, 1995)
TANNERGARD P; NORDENSKJOLD M; LINDBLOM A; LYSTROMLAHTI M; DELACHAPELLE A; PELTOMAKI P
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Employments

Professor, Clinical Genetics, Department of Molecular Medicine and Surgery, Karolinska Institutet, 1993-
Consultant and head, Department of Clinical Genetics and Genomics, Karolinska University Hospital, 1991-2017

Degrees and Education

Docent, Medical Genetics, Karolinska Institutet, 1984
Doctor of medical science, Karolinska Institutet, 1982
Medical doctor, Karolinska Institutet, 1976

Leadership and responsibility assignments

Manager for the research building, BioClinicum, Karolinska University Hospital, 2017-

Supervisor

Kristine Bilgrav Saether, 2021
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing
Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, https://openarchive.ki.se/articles/thesis/Structural_genomic_variation_in_human_disease/26917915?file=48962779

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