Daniel Nilsson

Publikationer
Forskningsbidrag
CV
Populärvetenskap och samverkan

Artiklar

Article: JOURNAL OF INTERNAL MEDICINE. 2024;296(3):234-248

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Soderhall C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
Journal article: PATHOLOGY. 2023;55:s19-s20

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: PLOS ONE. 2023;18(7):e0289346

Transposable element insertions in 1000 Swedish individuals

Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
Article: FRONTIERS IN GENETICS. 2023;14:1174046

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G
Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: HUMAN MUTATION. 2022;43(6):708-716

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):46

Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis

Wallander K; Thonberg H; Nilsson D; Tham E
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: HUMAN GENETICS. 2021;140(5):775-790

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A
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: NEUROGENETICS. 2021;22(1):71-79

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Mereaux J-L; Firanescu C; Coarelli G; Kvarnung M; Rodrigues R; Pegoraro E; Tazir M; Taithe F; Valter R; Huin V; Lidstrom K; Banneau G; Morais S; Parodi L; Coutelier M; Papin M; Svenningsson P; Azulay J-P; Alonso I; Nilsson D; Brice A; Le Guern E; Press R; Vazza G; Loureiro JL; Goizet C; Durr A; Paucar M; Stevanin G
Article: NEUROLOGY-GENETICS. 2021;7(1):e546

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations

Paucar M; Agren R; Li T; Lissmats S; Bergendal A; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
Article: FRONTIERS IN GENETICS. 2021;12:803683

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand 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: NEUROLOGY-GENETICS. 2020;6(6):e526

Heterozygous variants in DCC: Beyond congenital mirror movements

Thams S; Islam M; Lindefeldt M; Nordgren A; Granberg T; Tesi B; Barbany G; Nilsson D; Paucar M
Article: HUMAN MUTATION. 2020;41(11):1979-1998

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Breman AM; Cheung SW; Krepischi ACV; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Article: BMC BIOINFORMATICS. 2020;21(1):273

Loqusdb: added value of an observations database of local genomic variation

Magnusson M; Eisfeldt J; Nilsson D; Rosenbaum A; Wirta V; Lindstrand A; Wedell A; Stranneheim H
Article: BMC BIOINFORMATICS. 2020;21(1):128

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

Thutkawkorapin J; Eisfeldt J; Tham E; Nilsson D
Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613

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

Ivanov Ofverholm I; Zachariadis V; Taylan F; Marincevic-Zuniga Y; Anh NT; Saft L; Nilsson D; Syvanen A-C; Lonnerholm G; Harila-Saari A; Nordenskjold M; Heyman M; Nordgren A; Nordlund J; Barbany G
Article: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30

Discovery of Novel Sequences in 1,000 Swedish Genomes

Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
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: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
Article: PLOS GENETICS. 2019;15(2):e1007858

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Kaeller M; Gruselius J; Nilsson D; Lundberg ES; Carvalho CMB; Lindstrand A
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: PLOS GENETICS. 2018;14(11):e1007780

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: HUMAN MUTATION. 2018;39(10):1456-1467

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: ONCOTARGET. 2018;9(13):11170-11179

Two novel colorectal cancer risk loci in the region on chromosome 9q22.32.

Thutkawkorapin J; Mahdessian H; Barber T; Picelli S; von Holst S; Lundin J; Valle L; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
Article: HUMAN GENOME VARIATION. 2018;5:18009

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

Arkani S; Cao J; Lundin J; Nilsson D; Kallman T; Barker G; Holmdahl G; Kockum CC; Matsson H; Nordenskjold A
Article: PLOS ONE. 2018;13(3):e0189710

AMYCNE: Confident copy number assessment using whole genome sequencing data

Eisfeldt J; Nilsson D; Andersson-Assarsson JC; Lindstrand A
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: EUROPEAN JOURNAL OF HUMAN GENETICS. 2017;25(11):1253-1260

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur A; Dahlberg J; Olason P; Vezzi F; Karlsson R; Martin M; Viklund J; Kahari AK; Lundin P; Che H; Thutkawkorapin J; Eisfeldt J; Lampa S; Dahlberg M; Hagberg J; Jareborg N; Liljedahl U; Jonasson I; Johansson A; Feuk L; Lundeberg J; Syvanen A-C; Lundin S; Nilsson D; Nystedt B; Magnusson PKE; Gyllensten U
Journal article: F1000RESEARCH. 2017;6:664

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data

Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity

Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid B-M; Nordgren A; Lindstrand A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
Article: HUMAN MUTATION. 2017;38(2):180-192

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: HUMAN GENETICS. 2017;136(2):179-192

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Bramswig NC; Luedecke H-J; Pettersson M; Albrecht B; Bernier RA; Cremer K; Eichler EE; Falkenstein D; Gerdts J; Jansen S; Kuechler A; Kvarnung M; Lindstrand A; Nilsson D; Nordgren A; Pfundt R; Spruijt L; Surowy HM; de Vries BBA; Wieland T; Engels H; Strom TM; Kleefstra T; Wieczorek D
Article: F1000RESEARCH. 2017;6:664

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
Article: BMC GENETICS. 2016;17:41

Exome sequencing in one family with gastric- and rectal cancer

Thutkawkorapin J; Picelli S; Kontham V; Liu T; Nilsson D; Lindblom A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
Article: PLOS ONE. 2016;11(9):e0163362

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Kostareva A; Kiselev A; Gudkova A; Frishman G; Ruepp A; Frishman D; Smolina N; Tarnovskaya S; Nilsson D; Zlotina A; Khodyuchenko T; Vershinina T; Pervunina T; Klyushina A; Kozlenok A; Sjoberg G; Golovljova I; Sejersen T; Shlyakhto 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: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

Korberg IB; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojevic V; Kockum CC; Lundin J; Lindstrand A; Nordenskjold A
Article: ANTICANCER RESEARCH. 2015;35(6):3155-3165

Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer

Marikkannu R; Aravidis C; Rantala J; Picelli S; Adamovic T; Keihas M; Liu T; Kontham V; Nilsson D; Lindblom 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: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164(12):3083-3087

Intragenic Duplication-A Novel Causative Mechanism for SATB2-Associated Syndrome

Lieden A; Kvarnung M; Nilssson D; Sahlin E; Lundberg ES
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjold M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg H-E; Cattini PA; Nordenskjöld A; Mäkitie O; Grigelioniene G; Nordgren A
Article: JOURNAL OF PEDIATRIC SURGERY. 2014;49(4):622-625

A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with Multiple Sclerosis

Granstrom AL; Markljung E; Fink K; Nordenskjold E; Nilsson D; Wester T; Nordenskjold A
Article: GENOME BIOLOGY. 2014;15(3):R53

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Brownstein CA; Beggs AH; Homer N; Merriman B; Yu TW; Flannery KC; DeChene ET; Towne MC; Savage SK; Price EN; Holm IA; Luquette LJ; Lyon E; Majzoub J; Neupert P; McCallie DJ; Szolovits P; Willard HF; Mendelsohn NJ; Temme R; Finkel RS; Yum SW; Medne L; Sunyaev SR; Adzhubey I; Cassa CA; de Bakker PIW; Duzkale H; Dworzynski P; Fairbrother W; Francioli L; Funke BH; Giovanni MA; Handsaker RE; Lage K; Lebo MS; Lek M; Leshchiner I; MacArthur DG; McLaughlin HM; Murray MF; Pers TH; Polak PP; Raychaudhuri S; Rehm HL; Soemedi R; Stitziel NO; Vestecka S; Supper J; Gugenmus C; Klocke B; Hahn A; Schubach M; Menzel M; Biskup S; Freisinger P; Deng M; Braun M; Perner S; Smith RJH; Andorf JL; Huang J; Ryckman K; Sheffield VC; Stone EM; Bair T; Black-Ziegelbein EA; Braun TA; Darbro B; DeLuca AP; Kolbe DL; Scheetz TE; Shearer AE; Sompallae R; Wang K; Bassuk AG; Edens E; Mathews K; Moore SA; Shchelochkov OA; Trapane P; Bossler A; Campbell CA; Heusel JW; Kwitek A; Maga T; Panzer K; Wassink T; Van Daele D; Azaiez H; Booth K; Meyer N; Segal MM; Williams MS; Tromp G; White P; Corsmeier D; Fitzgerald-Butt S; Herman G; Lamb-Thrush D; McBride KL; Newsom D; Pierson CR; Rakowsky AT; Maver A; Lovrecic L; Palandacic A; Peterlin B; Torkamani A; Wedell A; Huss M; Alexeyenko A; Lindvall JM; Magnusson M; Nilsson D; Stranneheim H; Taylan F; Gilissen C; Hoischen A; van Bon B; Yntema H; Nelen M; Zhang W; Sager J; Zhang L; Blair K; Kural D; Cariaso M; Lennon GG; Javed A; Agrawal S; Ng PC; Sandhu KS; Krishna S; Veeramachaneni V; Isakov O; Halperin E; Friedman E; Shomron N; Glusman G; Roach JC; Caballero J; Cox HC; Mauldin D; Ament SA; Rowen L; Richards DR; San Lucas FA; Gonzalez-Garay ML; Caskey CT; Bai Y; Huang Y; Fang F; Zhang Y; Wang Z; Barrera J; Garcia-Lobo JM; Gonzalez-Lamuno D; Llorca J; Rodriguez MC; Varela I; Reese MG; De la Vega FM; Kiruluta E; Cargill M; Hart RK; Sorenson JM; Lyon GJ; Stevenson DA; Bray BE; Moore BM; Eilbeck K; Yandell M; Zhao H; Hou L; Chen X; Yan X; Chen M; Li C; Yang C; Gunel M; Li P; Kong Y; Alexander AC; Albertyn ZI; Boycott KM; Bulman DE; Gordon PMK; Innes AM; Knoppers BM; Majewski J; Marshall CR; Parboosingh JS; Sawyer SL; Samuels ME; Schwartzentruber J; Kohane IS; Margulies DM
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: 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: 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: FASEB JOURNAL. 2012;26(11):4650-4661

The genome of the heartworm, Dirofilaria immitis, reveals drug and vaccine targets

Godel C; Kumar S; Koutsovoulos G; Ludin P; Nilsson D; Comandatore F; Wrobel N; Thompson M; Schmid CD; Goto S; Bringaud F; Wolstenholme A; Bandi C; Epe C; Kaminsky R; Blaxter M; Maeser P
Article: RNA. 2011;17(12):2108-2118

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

Yepiskoposyan H; Aeschimann F; Nilsson D; Okoniewski M; Muehlemann O
Article: PLOS NEGLECTED TROPICAL DISEASES. 2011;5(8):e1283

The Short Non-Coding Transcriptome of the Protozoan Parasite Trypanosoma cruzi

Franzen O; Arner E; Ferella M; Nilsson D; Respuela P; Carninci P; Hayashizaki Y; Aslund L; Andersson B; Daub CO
Article: MOLECULAR AND CELLULAR BIOLOGY. 2011;31(8):1690-1700

Epigenetic Regulation of Transcription and Virulence in Trypanosoma cruzi by O-Linked Thymine Glucosylation of DNA

Ekanayake DK; Minning T; Weatherly B; Gunasekera K; Nilsson D; Tarleton R; Ochsenreiter T; Sabatini R
Article: PLOS ONE. 2011;6(3):e17546

Genome-Wide Identification of Molecular Mimicry Candidates in Parasites

Ludin P; Nilsson D; Maeser P
Article: NUCLEIC ACIDS RESEARCH. 2010;38(21):7378-7387

The Trypanosoma brucei MitoCarta and its regulation and splicing pattern during development

Zhang X; Cui J; Nilsson D; Gunasekera K; Chanfon A; Song X; Wang H; Xu Y; Ochsenreiter T
Article: PLOS PATHOGENS. 2010;6(9):e1001091

Phylogenomics of Ligand-Gated Ion Channels Predicts Monepantel Effect

Rufener L; Keiser J; Kaminsky R; Maeser P; Nilsson D
Article: PLOS PATHOGENS. 2010;6(8):e1001037

Spliced Leader Trapping Reveals Widespread Alternative Splicing Patterns in the Highly Dynamic Transcriptome of Trypanosoma brucei

Nilsson D; Gunasekera K; Mani J; Osteras M; Farinelli L; Baerlocher L; Roditi I; Ochsenreiter T
Article: MOLECULAR AND BIOCHEMICAL PARASITOLOGY. 2010;170(2):74-83

var gene transcription dynamics in Plasmodium falciparum patient isolates

Blomqvist K; Normark J; Nilsson D; Ribacke U; Orikiriza J; Trillkott P; Byarugaba J; Egwang TG; Kironde F; Andersson B; Wahlgren M
Article: BMC GENOMICS. 2010;11:217

Comparative genomics of metabolic networks of free-living and parasitic eukaryotes

Nerima B; Nilsson D; Maeser P
Article: PROTEOMICS. 2008;8(13):2735-2749

Proteomics in Trypanosoma cruzi -: localization of novel proteins to various organelles

Ferella M; Nilsson D; Darban H; Rodrigues C; Bontempi EJ; Docampo R; Andersson B
Article: BMC GENOMICS. 2007;8:391

Database of Trypanosoma cruzi repeated genes:: 20000 additional gene variants

Arner E; Kindlund E; Nilsson D; Farzana F; Ferella M; Tammi MT; Andersson B
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2007;104(40):15835-15840

PfEMP1-DBL1 α amino acid motifs in severe disease states of Plasmodium falciparum malaria

Normark J; Nilsson D; Ribacke U; Winter G; Moll K; Wheelock CE; Bayarugaba J; Kironde F; Egwang TG; Chen Q; Andersson B; Wahigren M
Article: COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE. 2007;86(1):87-92

GRAT - genome-scale rapid alignment tool

Kindlund E; Tammi MT; Arner E; Nilsson D; Andersson B
Article: MOLECULAR AND BIOCHEMICAL PARASITOLOGY. 2007;152(2):123-131

Characterization of a Trypanosoma cruzi acetyltransferase:: cellular location, activity and structure

Ochaya S; Respuela P; Simonsson M; Saraswathi A; Branche C; Lee J; Bua J; Nilsson D; Aslund L; Bontempi EJ; Andersson B
Article: GENOME BIOLOGY. 2007;8(3):r37

Repetitive DNA is associated with centromeric domains in Trypanosoma brucei but not Trypanosoma cruzi

Obado SO; Bot C; Nilsson D; Andersson B; Kelly JM
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2006;281(51):39339-39348

A solanesyl-diphosphate synthase localizes in glycosomes of Trypanosoma cruzi

Ferella M; Montalvetti A; Rohloff P; Miranda K; Fang J; Reina S; Kawamukai M; Bua J; Nilsson D; Pravia C; Katzin A; Cassera MB; Aslund L; Andersson B; Docampo R; Bontempi EJ
Article: MOLECULAR AND BIOCHEMICAL PARASITOLOGY. 2005;143(2):125-134

Messenger RNA processing sites in Trypanosoma brucei

Benz C; Nilsson D; Andersson B; Clayton C; Guilbride DL
Article: SCIENCE. 2005;309(5733):409-415

The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease

El-Sayed NM; Myler PJ; Bartholomeu DC; Nilsson D; Aggarwal G; Tran AN; Ghedin E; Worthey EA; Delcher AL; Blandin G; Westenberger SJ; Caler E; Cerqueira GC; Branche C; Haas B; Anupama A; Arner E; Åslund L; Attipoe P; Bontempi E; Bringaud F; Burton P; Cadag E; Campbell DA; Carrington M; Crabtree J; Darban H; da Silveira JF; de Jong P; Edwards K; Englund PT; Fazelina G; Feldblyum T; Ferella M; Frasch AC; Gull K; Horn D; Hou LH; Huang YT; Kindlund E; Ktingbeil M; Kluge S; Koo H; Lacerda D; Levin MJ; Lorenzi H; Louie T; Machado CR; McCulloch R; McKenna A; Mizuno Y; Mottram JC; Nelson S; Ochaya S; Osoegawa K; Pai G; Parsons M; Pentony M; Pettersson U; Pop M; Ramirez JL; Rinta J; Robertson L; Salzberg SL; Sanchez DO; Seyler A; Sharma R; Shetty J; Simpson AJ; Sisk E; Tammi MT; Tarteton R; Teixeira S; Van Aken S; Vogt C; Ward PN; Wickstead B; Wortman J; White O; Fraser CM; Stuart KD; Andersson B
Article: SCIENCE. 2005;309(5733):404-409

Comparative genomics of trypanosomatid parasitic protozoa

El-Sayed NM; Myler PJ; Blandin G; Berriman M; Crabtree J; Aggarwal G; Caler E; Renauld H; Worthey EA; Hertz-Fowler C; Ghedin E; Peacock C; Bartholomeu DC; Haas BJ; Tran AN; Wortman JR; Alsmark UCM; Angiuoli S; Anupama A; Badger J; Bringaud F; Cadag E; Carlton JM; Cerqueira GC; Creasy T; Delcher AL; Djikeng A; Embley TM; Hauser C; Ivens AC; Kummerfeld SK; Pereira-Leal JB; Nilsson D; Peterson J; Salzberg SL; Shallom J; Silva JC; Sundaram J; Westenberger S; White O; Metville SE; Donelson JE; Andersson B; Stuart KD; Hall N
Article: EXPERIMENTAL PARASITOLOGY. 2005;109(3):143-149

Strand asymmetry patterns in trypanosomatid parasites

Nilsson D; Andersson B
Article: COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE. 2004;73(1):55-60

A graphical tool for parasite genome annotation

Nilsson D; Andersson B
Article: PARASITOLOGY. 2003;127(Pt 2):139-145

Expressed sequence tag analysis of Sarcoptes scabiei

Ljunggren EL; Nilsson D; Mattsson JG
Article: SCIENCE. 2003;300(5626):1718-1722

Selective charging of tRNA isoacceptors explains patterns of codon usage

Elf J; Nilsson D; Tenson T; Ehrenberg M
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Letter: MOVEMENT DISORDERS. 2024;39(6):1077

Comment to: "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies"

Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Wedell A; Svenningsson P
Editorial comment: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020

Novel findings in a Swedish primary familial brain calcification cohort

Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders

Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Preprint: MEDRXIV. 2023

Spinocerebellar ataxia type 4 is caused by a GGC expansion in theZFHX3gene and is associated with prominent dysautonomia and motor neuron signs

Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Söderhäll C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:588

Melter: towards achieving efficient semi-automatic reanalysis in rare disease

Onsbring H; Nilsson D; Stranneheim H; Wirta V
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451

Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591

Implementation of genomic medicine in Stockholm healthcare region - update on first 10,000 samples

Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Lesko N; Nilsson D; Vonlanthen S; Eisfeldt J; Kvarnung M; Engvall M; Malmgren H; Anderlid B-M; Rasi C; Jemt A; Marits P; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: BLOOD. 2022;140:13003-13004

Identification and Interpretation of Clinically Relevant Somatic Variants from Whole-Genome Sequencing Data

Maqbool K; Foroughi-Asl HH; Jeggari AA; Ivanchuk V; Eisfeldt J; Renevey A; Elhami K; Rasi C; Nilsson D; Heinaniemi M; Lohi O; Wirta V
Preprint: MEDRXIV. 2022

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Lowther C; Mehrjouy MM; Collins RL; Bak MC; Dudchenko O; Brand H; Dong Z; Rasmussen MB; Gu H; Weisz D; Nazaryan-Petersen L; Fjorder AS; Mang Y; Lind-Thomsen A; Mendez JMM; Calle X; Chopra A; Hansen C; Bugge M; Broekema RV; Varilo T; Luukkonen T; Engelen J; Vianna-Morgante AM; Fonseca ACS; Mazzeu JF; Dornelles-Wawruk H; Abe KT; Vermeesch JR; Van Den Bogaert K; Sismani C; Aristidou C; Evangelidou P; Schinzel AA; Sanlaville D; Schluth-Bolard C; Kalscheuer VM; Wenzel M; Kim H-G; Õunap K; Roht L; Midyan S; Bonaglia MC; Lindstrand A; Eisfeldt J; Ottosson J; Nilsson D; Pettersson M; Bastos EF; Rajcan-Separovic E; Silan F; Sheth FJ; Novelli A; Frengen E; Fannemel M; Strømme P; Vokač NK; Daumer-Haas C; Moretti-Ferreira D; de Souza DH; Ramos-Arroyo MA; Igoa MM; Angelova L; Kroisel PM; del Rey G; Vieira TAP; Lewis S; Hao W; Drabova J; Havlovicova M; Hancarova M; Sedláček Z; Vogel I; Hjortshøj TD; Møller RS; Tümer Z; Fagerberg C; Ousager LB; Schönewolf-Greulich B; Lauridsen M; Piard J; Pebrel-Richard C; Jaillard S; Ehmke N; Stefanou EG; Marta C; György K; Dalal A; Dutta UR; Shukla R; Lonardo F; Zuffardi O; Houge G; Misceo D; Baig SM; Midro A; Wawrusiewicz-Kurylonek N; Carreira IM; Melo JB; Martinez LR; Guitart M; Lovmar L; Gullander J; Hansson KBM; de Almeida Esteves C; Akkari Y; Batanian JR; Li X; Lespinasse J; Silahtaroglu A; Harding CH; Krogh LN; Taylor J; Lehnert K; Hill R; Snell RG; Samson CA; Jacobsen JC; Levy B; Clark OA; Toylu A; Nur B; Mihci E; O’Keefe K; Mohajeri-Stickels K; Wilch ES; Kammin T; Piña-Aguilar RE; Nalbandian K; Temel SG; Sag SO; Turkgenc B; Kamath A; Ruiz-Herrera A; Banka S; Schilit SLP; Currall BB; Yachelevich N; Galloway S; Chung WK; Raskin S; Maya I; Orenstein N; Gilad NK; Flamenbaum KR; Hay BN; Morton CC; Liao E; Choy KW; Gusella JF; Jacky P; Aiden EL; Consortium IBM; Group DCCRS; Project DGA; Bache I; Talkowski ME; Tommerup N
Editorial comment: NEUROLOGY-GENETICS. 2021;7(6):e628

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant

Paucar M; Tesi B; Eshtad S; Eriksson C; Hashim F; Nilsson D; Pourhamidi K; Hellstrom-Lindberg E; Bryceson YT; Svenningsson P
Corrigendum: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):47

Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis (vol 19, 46, 2021)

Wallander K; Thonberg H; Nilsson D; Tham E
Preprint: AUTHOREA. 2021

PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the MatchMaker Exchange network

Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
Corrigendum: NEUROLOGY-GENETICS. 2021;7(2):e567

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations (vol 7, e546, 2021)

Paucar M; Agren R; Li T; Lissmats S; Bergendal A; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53

Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities

Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: MOVEMENT DISORDERS. 2020;35:S21-S22

Novel KCND3 mutation associated with paroxysmal motor exacerbations in spinocerebellar ataxia 19

Paucar M; Agren R; Li T; Lissmats S; Bergendal A; Savitcheva I; Nilsson D; Sahlholm K; Svenningsson P; Nilsson J
Conference publication: MOVEMENT DISORDERS. 2020;35:S91-S92

Primary familial brain calcifications in Sweden

Paucar M; Gilland E; Almqvist H; Engvall M; Bjorkhem I; Nilsson D; Svenningsson P
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):526-527

Cellfree tumour DNA analysis detects copy number alterations in gastrooesophageal cancer patients.

Wallander K; Eisfeldt J; Lindblad M; Nilsson D; Billiau K; Foroughi H; Nordenskjold M; Leiden A; Tham E
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588

A case of ring chromosome 21 with hemifacial microsomia, developmental and speech delay analysed with WGS and patient-derived iPS

Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Shahsavani M; Nilsson D; Falk A; Lindstrand A
Preprint: BIORXIV. 2019

pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing

Thutkawkorapin J; Eisfeldt J; Tham E; Nilsson D
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667

From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

Nilsson D; Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533

Family trio analysis in rare syndromes - Clinical experience and outcome

Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143

Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome

Kvarnung M; Shahsavani M; Taylan F; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Conference publication: MOLECULAR CYTOGENETICS. 2019;12

From cytogenetics to cytogenomics whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Nilsson D; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1719-1720

Loqusdb: the value of a local frequency database

Magnusson M; Eisfeldt J; Stranneheim H; Nilsson D; Lindsdtrand A; Wedell A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1766

Discovery of novel Viking sequences in Swedish genomes

Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138

Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats

Pettersson M; Grochowski CM; Eisfeldt J; Wincent J; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Conference publication: MOLECULAR CYTOGENETICS. 2019;12

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Cheung SW; Victorino Krepischi AC; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677

Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection

Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675

Whole exome sequencing in rare syndromes using family trios - Clinical experience and outcome

Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:614-615

Sequencing analysis of the ISL1 gene in human bladder exstrophy

Arkani S; Cao J; Lundin J; Nilsson D; Kallman T; Barker G; Holmdahl G; Kockum CC; Matsson H; Nordenskjold A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:589-590

a novel risk SNP in the colorectal-cancer risk locus on chromosome 9q22

Thutkawkorapin J; Mahdessian H; Picelli S; Von Holst S; Lundin J; Kontham V; Liu T; Nilsson D; Jiao X; Lindblom A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60

Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

Nazaryan-Petersen L; Eisfeldt J; Lundin J; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:164-165

Identification of pathogenic single nucleotide variants (SNVs) 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
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:587-588

Whole genome sequencing in patients with multiple primary tumors

Wallander K; Nilsson D; Tham E
Corrigendum: MOLECULAR AND CELLULAR BIOLOGY. 2017;37(15):e00239-e00217

Epigenetic Regulation of Transcription and Virulence in Trypanosoma cruzi by O-Linked Thymine Glucosylation of DNA (vol 31, pg 1690, 2011)

Ekanayake DK; Minning T; Weatherly B; Gunasekera K; Nilsson D; Tarleton R; Ochsenreiter T; Sabatini R
Conference publication: MOLECULAR CYTOGENETICS. 2017;10

Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non homologous repair or template switching

Eisfeldt J; Nazaryan-Petersen L; Lundin JL; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Preprint: BIORXIV. 2016

SweGen: A whole-genome map of genetic variability in a cross-section of the Swedish population

Ameur A; Dahlberg J; Olason P; Vezzi F; Karlsson R; Lundin P; Che H; Thutkawkorapin J; Kähäri AK; Dahlberg M; Viklund J; Hagberg J; Jareborg N; Jonasson I; Johansson Å; Lundin S; Nilsson D; Nystedt B; Magnusson P; Gyllensten U
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: CLINICAL GENETICS. 2015;87(5):496-498

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Conference publication: BRITISH JOURNAL OF DERMATOLOGY. 2014;170(6):E3

Exome sequencing among Ethiopian patients with atopic dermatitis

Taylan F; Asad S; Nilsson D; Lieden A; Winge MCG; Desaleign K; Wahlgren C-F; Nordenskjold M; Bradley M
Conference publication: INTERNATIONAL JOURNAL FOR PARASITOLOGY. 2008;38:S26-S27

PfEMP1-DBL1 amino acid motifs in severe disease states of Plasmodium falciparum malaria.

Normark J; Nilsson D; Ribackel U; Winter G; Moll K; Wheelock CE; Bayarugaba J; Kironde F; Egwang TG; Chen Q; Andersson B; Wahlgren M
Thesis / dissertation: 2006

Genomic feature identification in trypanosomatid parasites

Nilsson, Daniel
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Forskningsbidrag

Colrectal cancer - predisposition and prevention

Swedish Research Council

1 January 2015 - 31 December 2018
Clinical genomics

Swedish Research Council

1 January 2012 - 31 December 2013
Notification of the use of return grants for granted postdoctoral grants

Swedish Research Council

1 April 2010 - 31 December 2010

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2022-2025

Examina och utbildning

MEDICINE DOKTORSEXAMEN, Institutionen för cell- och molekylärbiologi, Karolinska Institutet, 2006

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