Magnus Nordenskjöld

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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; Jylhä C; Crona Guterstam Y; Zupancic M; Lindqvist B; Nordenskjöld 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; Jylhä C; Nordenskjöld 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; Niemelä V; Malmgren H; Nennesmo I; Lagerstedt-Robinson K; Nordenskjöld 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; Chorfi S; Lakhani SA; Ji W; Steiner L; Marcadier J; Jansen PR; van de Pol LA; van Hagen JM; Russi AS; Le Guyader G; Nordenskjöld M; Nordgren A; Anderlid B-M; Plaisancié J; Stoltenburg C; Horn D; Drenckhahn A; Hamdan FF; Lefebvre M; Attie-Bitach T; Forey P; Smirnov V; Ernould F; Jacquemont M-L; Grotto S; Alcantud A; Coret A; Ferrer-Avargues R; Srivastava S; Vincent-Delorme C; Romoser S; Safina N; Saade D; Lupski JR; Calame DG; Geneviève D; Chatron N; Schluth-Bolard C; Myers KA; Dobyns WB; Calvas P; DDD Study; Salmon C; Holt R; Elmslie F; Allaire M; Prigozhin DM; Tremblay A; Michaud JL
Article: 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; Jylhä C; de Ståhl TD; Shamikh A; Sandgren J; Rosenquist R; Nordenskjöld 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; Cuba Gyllensten O; Hägglund M; Wirta V; Nordenskjöld 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; Crona Guterstam Y; Holzhauser S; Nordenskjöld 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; Nordenskjöld M; Harila-Saari A; Tham E; Barbany G
Article: PLOS ONE. 2022;17(2):e0264056

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Lagerstedt-Robinson K; Baranowska Körberg I; Tsiaprazis S; Björck E; Tham E; Poluha A; Hellström Pigg M; Paulsson-Karlsson Y; Nordenskjöld 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; Nordenskjöld M; Micke P; Maltseva D; Tonevitsky AG; Millischer V; Carlos Villaescusa J; 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.

Sahlén P; Spalinskas R; Asad S; Mahapatra KD; Höjer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Ståhle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjöld M; Taylan F; Bradley M; Tapia-Páez 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; CAUSES Study; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; SPARK Consortium; Earl RK; Nowakowski T; Bernier RA; Eichler EE
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: 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; Nordenskjöld 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; Nordenskjöld M; Liedén 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; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Article: 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; Nordenskjöld 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 Öfverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Tran AN; Saft L; Nilsson D; Syvänen A-C; Lönnerholm G; Harila-Saari A; Nordenskjöld M; Heyman M; Nordgren A; Nordlund J; Barbany G
Article: GENOME MEDICINE. 2019;11(1):68

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: 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.

Löfstedt A; Ahlm C; Tesi B; Bergdahl IA; Nordenskjöld 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; Hammarsjö A; Marsk E; Nordgren A; Nordenskjöld M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjöld M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; CAUSES Study; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denommé-Pichon A-S; Deciphering Developmental Disorders study; Férec C; Yang X-J; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bézieau S; Küry S; Campeau PM
Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; ADNP Consortium; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
Article: FRONTIERS IN GENETICS. 2019;10:896

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjöld M; Syk Lundberg E; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: 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; Gréen A; Gustavsson P; Liedén A; Nordenskjöld 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; Nordenskjöld 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 Å; Gustavsson P; Nordenskjöld 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 lymphohistiocytosis and normal pigmentation.

Tesi B; Rascon J; Chiang SCC; Burnyte B; Löfstedt A; Fasth A; Heizmann M; Juozapaite S; Kiudeliene R; Kvedaraite E; Miseviciene V; Muleviciene A; Müller M-L; Nordenskjöld 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.

Tran AN; Taylan F; Zachariadis V; Ivanov Öfverholm I; Lindstrand A; Vezzi F; Lötstedt B; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Förster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Mäkitie O; Wirta V; Käller M; Vezzi F; Lupski JR; Nordenskjöld M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: 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; Nordenskjöld M; 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; Ünüvar A; Introne WJ; Henter J-I; Nordenskjöld 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; Nordenskjöld 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.

Ivanov Öfverholm I; Tran AN; Olsson L; Zachariadis V; Heyman M; Rudd E; Syk Lundberg E; Nordenskjöld M; Johansson B; Nordgren A; Barbany G
Article: 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; Nordenskjöld M; Sundström C; Enblad G; Dalla-Favera R; Zhang H; Teixeira MR; Pasqualucci L; Peng R; Pan-Hammarström 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; Vogel I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Klein Wassink-Ruiter JS; 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; Nordenskjöld 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: CLINICAL GENETICS. 2016;89(1):99-103

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Kvarnung M; Taylan F; Nilsson D; Albåge M; Nordenskjöld M; Anderlid BM; Nordgren A; Syk Lundberg E
Article: 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; Nordenskjöld M; Gustavsson P; Wincent J; Georgsson S; Iwarsson E
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; Möttönen M; Akar HH; Hästbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjöld 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; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter J-I; Meeths M
Article: KIDNEY INTERNATIONAL. 2015;88(5):1057-1069

Disruption of tubular Flcn 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; Nordenskjöld M; Tauc M; Williams BO; Furge KA; Teh BT
Article: CLINICAL GENETICS. 2015;87(3):273-278

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O; Geiberger S; Horemuzova E; Hagenäs L; Moström E; Nordenskjöld M; Grigelioniene G; Nordgren A
Article: 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; Nordenskjöld M; Winge MCG; Keil T; Krüger R; Lau S; Beyer K; Kalb B; Niggemann B; Hübner N; Cordell HJ; Bradley M; Lee Y-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; Nordenskjöld M; Linnarsson S
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; Tapia Páez I; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjöld M; Syk Lundberg E; 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; Nordenskjöld M; Vahlquist A; Törmä 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; Nordenskjöld M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(7):1635-1641

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

Grigelioniene G; Geiberger S; Horemuzova E; Moström E; Jäntti N; Neumeyer L; Åström E; Nordenskjöld M; Nordgren A; Mäkitie O
Article: FRONTIERS IN IMMUNOLOGY. 2014;4:515

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller M-L; Chiang SCC; Meeths M; Tesi B; Entesarian M; Nilsson D; Wood SM; Nordenskjöld M; Henter J-I; Naqvi A; Bryceson YT
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; Liedén A; Papadogiannakis N; Bjäreborn L; Pettersson K; Nordenskjöld 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; Nordenskjöld M; Mäkitie O; Nordgren A
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; Nordenskjöld M; Grinnemo K-H; Kere J; Betsholtz C; Hovatta O; Tryggvason K
Article: PLOS ONE. 2014;9(9):e107712

Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor.

Lim ML; Ooi BNS; Jungebluth P; Sjöqvist S; Hultman I; Lemon G; Gustafsson Y; Asmundsson J; Baiguera S; Douagi I; Gilevich I; Popova A; Haag JC; Rodríguez AB; Lim J; Liedén A; Nordenskjöld M; Alici E; Baker D; Unger C; Luedde T; Vassiliev I; Inzunza J; Ahrlund-Richter L; Macchiarini P
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; Fölster-Holst R; Franke A; Novak N; Fahy CM; Winge MCG; Kabesch M; Illig T; Heath S; Söderhäll C; Melén 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; Stödberg T; Mäkitie O; Anderlid B-M; Bryceson YT; Nordenskjöld 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; Langenskiöld C; Machaczka M; Naqvi A; Payne J; Perez-Martinez A; Sabel M; Unal E; Unal S; Winiarski J; Nordenskjöld 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; Kriström B; Nordenskjöld 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; Liedén A; Nordenskjöld M; Wahlgren CF; Bradley M; Ståhle M
Article: ARCHIVES OF DERMATOLOGICAL RESEARCH. 2012;304(10):773-780

Characterization of EGFR and ErbB2 expression in atopic dermatitis patients.

Sääf A; Pivarcsi A; Winge MCG; Wahlgren C-F; Homey B; Nordenskjöld 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.

Haapaniemi Kouru K; Malmgren H; Nordenskjöld M; Fridström 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; Nordenskjöld M; Vahlquist A; Berne B; Törmä 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; Berglöf E; Lagerstedt-Robinson K; Nordenskjöld 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; Nordenskjöld 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-Páez I; Fan X; Zucchelli M; Taipale M; Stein CM; Hokkanen M-E; Castrén E; Pennington BF; Smith SD; Olson RK; Tomblin JB; Schulte-Körne G; Nöthen M; Schumacher J; Müller-Myhsok B; Hoffmann P; Gilger JW; Hynd GW; Nopola-Hemmi J; Leppanen PHT; Lyytinen H; Schoumans J; Nordenskjöld M; Spencer J; Stanic D; Boon WC; Simpson E; Mäkelä S; Gustafsson J-Å; 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.

Liedén A; Winge MCG; Sääf A; Kockum I; Ekelund E; Rodriguez E; Fölster-Holst R; Franke A; Illig T; Tengvall-Linder M; Baurecht H; Weidinger S; Wahlgren C-F; Nordenskjöld 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; Nordenskjöld E; Björklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist B-M; Rajic L; Pfeifer S; Rosthøj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren H-G; Fadeel B; Nordenskjöld 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; Liedén A; Shibeshi D; Sandilands A; Wahlgren C-F; McLean WHI; Nordenskjöld 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; Sveinbjörnsson B; FuskevÅg O-M; Segerström L; Nordenskjöld M; Siesjö P; Kogner P; Johnsen JI; Söderberg-Nauclér C
Article: HUMAN MUTATION. 2011;32(8):921-929

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS; Reiman A; Lim DHK; Nookala RK; Seabra L; Lu X; Fenton J; Boora U; Nordenskjöld 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; Lönnerholm G; Nordenskjöld M; Johansson B; Forestier E; Nordgren A; Nordic Society of Pediatric Hematology, Oncology (; Swedish Cytogenetic Leukemia Study Group (SCLSG)
Article: PEDIATRIC BLOOD & CANCER. 2011;56(3):444-451

Hematopoietic stem cell transplantation in severe congenital neutropenia.

Carlsson G; Winiarski J; Ljungman P; Ringdén O; Mattsson J; Nordenskjöld M; Touw I; Henter J-I; Palmblad J; Fadeel B; Hägglund H
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156(2):115-124

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppströmer A; Anderlid B-M; Nordenskjöld M; Schoumans J
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(5):615-622

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol.

Kuchinskaya E; Heyman M; Nordgren A; Söderhäll S; Forestier E; Wehner P; Vettenranta K; Jonsson O; Wesenberg F; Sahlén S; Nordenskjöld M; Blennow E
Article: 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; Nordenskjöld 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; Nordenskjöld M; Bradley M; Törmä H
Article: BMC MEDICAL GENOMICS. 2010;3:59

Birt-Hogg-Dubé 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; Sääf A; Zickert P; Aly M; Bergerheim U; Nordenskjöld M; Gad S; Giraud S; Denoux Y; Yonneau L; Méjean 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M; Brøndum-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.

Järhult J; Landerholm K; Falkmer S; Nordenskjöld 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; Nordenskjöld 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; Rosthøj S; Rutynowska O; Winiarski J; Stow JL; Nordenskjöld M; Henter J-I; Ljunggren H-G; Bryceson YT
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(5):358-362

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A; Schoumans J; Nordenskjöld 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; Nordenskjöld 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.

Liedén A; Ekelund E; Kuo I-C; Kockum I; Huang C-H; Mallbris L; Lee SP; Seng LK; Chin GY; Wahlgren C-F; Palmer CNA; Björkstén B; Ståhle M; Nordenskjöld 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; Gürgey A; Yalman N; Nordenskjöld 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; Trebińska A; Grzybowska E; Palmblad J; Dahl N; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M; Henter J-I; Zheng C
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; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren H-G; Fadeel B; Nordenskjöld M; Henter J-I
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 K BAC-clone-based array.

Díaz de Ståhl T; 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; Nordenskjöld M; Upadhyaya M; Komorowski J; Bruder CEG; Dumanski JP
Article: PLOS ONE. 2008;3(12):e4017

Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes.

Sääf AM; Tengvall-Linder M; Chang HY; Adler AS; Wahlgren C-F; Scheynius A; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M; Herbert M; Höög 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; Nordenskjöld M; Annerén 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; Anckarsäter H; Omrani D; Gillberg C; Nordenskjöld 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; Hägglund H; Fadeel B; Nordenskjöld M; Henter J-I; Palmblad J; Pütsep 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; Nordenskjöld 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; Grandér 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; Nordenskjöld 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 C-M; 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.

Rudd E; Göransdotter Ericson K; Zheng C; Uysal Z; Ozkan A; Gürgey A; Fadeel B; Nordenskjöld M; Henter J-I
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 J-I; 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; Díaz de Ståhl T; 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 JP
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 B-M; 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 approximately 650 kb.

Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid B-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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2005;134(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 B-M
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; Brøndum-Nielsen K; Teh BT; Annéren G; Holmberg E; Nordenskjöld M; Anderlid B-M
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 B-M; 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: 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 B-M; Blennow E; Brøndum-Nielsen K; Nordenskjöld M
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: 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 B-M; 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 J; 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 C; Grönberg H; Matsuyama H; Weber G; Nordenskjöld M; Naito K; Bergh A; Bergerheim U; Damber J-E; 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 B-M; Schoumans J; Hallqvist A; 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 J-I
Article: JOURNAL OF MEDICAL GENETICS. 2002;39(12):906-912

Clinical and genetic studies of Birt-Hogg-Dubé 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 M-A; 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 T-H; 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 b;alpha; regions in Swedish atopic dermatitis families.

Söderhäll C; Bradley M; Kockum I; Luthman H; Wahlgren C-F; 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 C-F; 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; Ahrlund-Richter L; Nordenskjöld M; Blennow E
Article: HUMAN GENETICS. 2002;110(5):439-443

FISH-mapping of a 100-kb terminal 22q13 deletion.

Anderlid B-M; 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 B-M; 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 A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; 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; Ahrlund-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-Dubé 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.

Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
Article: PRENATAL DIAGNOSIS. 2000;20(13):1038-1047

Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers.

Iwarsson E; Malmgren H; Inzunza J; Ahrlund-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 A; Zheng C; Lindvall C; Hou M; Ekedahl J; Lewensohn R; Yan Z; Yang X; Henriksson M; Blennow E; Nordenskjöld M; Zetterberg A; Björkholm M; Gruber A; Xu D
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.

Vorechovský I; Blennow E; Nordenskjöld M; Webster AD; 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; Ahrlund-Richter L; Sjöblom P; Lundkvist O; 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 C; Berx G; Larsson C; Auer G; Aspenblad U; Pan Y; Sundelin B; Ekman P; Nordenskjöld M; van Roy F; Bergerheim US
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; Ahrlund-Richter L
Article: MOLECULAR HUMAN REPRODUCTION. 1998;4(9):871-875

Preimplantation genetic diagnosis of DiGeorge syndrome.

Iwarsson E; Ahrlund-Richter L; Inzunza J; Fridström M; Rosenlund B; Hillensjö T; Sjöblom P; Nordenskjöld 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; 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; Fridström M; Hillensjö T; Sjöblom P; Nordenskjöld 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 C; Weber G; Ekman P; Lagercrantz J; Norlen BJ; Akerström G; Nordenskjöld M; Bergerheim US
Article: GENES CHROMOSOMES & CANCER. 1997;20(4):419-424

1p and 3p deletions in meningiomas without detectable aberrations of chromosome 22 identified by comparative genomic hybridization.

Carlson KM; Bruder C; Nordenskjöld 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; Nordenskjöld M; Söderhäll S; Porwit-MacDonald A; Blennow E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1997;82(12):4258-4265

Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern.

Enmark E; Pelto-Huikko M; Grandien K; Lagercrantz S; Lagercrantz J; Fried G; Nordenskjöld M; Gustafsson JA
Article: HUMAN GENETICS. 1997;101(1):51-55

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer.

Tannergård P; Liu T; Weger A; Nordenskjöld 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.

Bajalica-Lagercrantz S; Piehl F; Lagercrantz J; Lindahl J; Weber G; Kerckeart JP; Porwit-MacDonald A; Nordenskjöld 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; Nordenskjöld 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; van Amstel HK; Lips CJ; Nishisho I; Takai SI; Marsh DJ; Robinson BG; Frank-Raue K; Raue F; Xue F; Noll WW; Romei C; Pacini F; Fink M; Niederle B; Zedenius J; Nordenskjöld M; Komminoth P; Hendy GN; 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.

Bajalica-Lagercrantz S; Tingaard Pedersen N; Sørensen AG; Nordenskjöld 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; Nordenskjöld 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 beta3 neighboring gene.

Lagercrantz J; Kedra D; Carson E; Nordenskjöld 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; Bajalica-Lagercrantz S; Lindblom A; Lushnikova T; Kashuba VI; Imreh S; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M; Weber G
Article: NEUROREPORT. 1995;6(18):2542-2544

Expression of the phosphoinositide-specific phospholipase Cbeta3 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.

Tannergård P; Lipford JR; Kolodner R; Frödin JE; Nordenskjöld 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; Brok-Simoni 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; Nordenskjöld M
Article: GENES CHROMOSOMES & CANCER. 1995;13(1):34-39

Characterization of add(1)(p36) in non-Hodgkin lymphomas by fluorescence in situ hybridization.

Bajalica S; Brøndum-Nielsen K; Sørensen AG; Pedersen NT; Kristoffersson U; Akerman M; Anderson M; Pisa P; Nordenskjöld 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; Rosén A; Daré E; Nordenskjöld M; Hayward NK; Larsson C; Weber G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1995;55(1):85-94

Fifty 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; Nordenskjöld 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; Nordenskjöld M
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedláček Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; SPARK Consortium; Nordenskjöld M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
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; Liedén A; Nordenskjöld 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-Páez I; Montano Montes A; Wahlgren C-F; Bilcha KD; Nordenskjöld M; Bradley M
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170A(1):266-269

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

Hammarsjö A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedrén S; Nordenskjöld M; Nishimura G; Grigelioniene G
Letter: 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; Nordenskjöld 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; Nordenskjöld M; Hsu AP; Holland SM; Neves JF; 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; Hammarsjö A; Armenio M; Mäkitie O; Zabel B; Nordgren A; Nordenskjöld 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; Nordenskjöld M; Hammarström L; von Döbeln 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld M; Henter J-I; Bryceson YT
Letter: ACTA DERMATO-VENEREOLOGICA. 2013;93(3):366-367

Are BIC (miR-155) polymorphisms associated with eczema susceptibility?

Sääf A; Kockum I; Wahlgren C-F; Xu N; Sonkoly E; Ståhle M; Nordenskjöld 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; Nordenskjöld 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; Liedén A; Nordenskjöld M; Vahlquist A; Wahlgren C-F; Törmä 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; Grafström RC; Björck E; Nordenskjöld 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-Dubé syndrome: diagnosis and management.

Menko FH; van Steensel MAM; Giraud S; Friis-Hansen L; Richard S; Ungari S; Nordenskjöld M; Hansen TV; Solly J; Maher ER; European BHD Consortium
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.

Lundén L; Boxhammer S; Carlsson G; Ellström K-G; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Söderhäll S; Grandér D; Nordenskjöld 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; Pütsep K; Garwicz D; Nordenskjöld 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 J-I; 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 C; Henriksson M; Sedivy JM; Björkholm M; Teh BT; Nordenskjöld M; Xu D
Review: SEMINARS IN CANCER BIOLOGY. 2000;10(4):299-312

Multiple endocrine neoplasia type 1.

Ki Wong F; Burgess J; Nordenskjöld M; Larsson C; Tean Teh B
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.

Björck E; Samuelsson J
Letter: NATURE MEDICINE. 1995;1(11):1104

Finnish mutations in Swedish HNPCC families.

Tannergård P; Nordenskjöld 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-

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