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: 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: 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: 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 AND 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 (MBE). 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: THE 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: A PUBLICATION OF THE RNA SOCIETY. 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 (NAR). 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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Alla övriga publikationer

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: 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):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: 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

Handledare

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

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