Jesper Eisfeldt

About me
Publications
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About me

Research group: Rare Diseases [1]
[1] https://ki.se/en/mmk/rare-diseases

Articles

Article: SCIENTIFIC REPORTS. 2024;14(1):9000
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin E-L; Feuk L; Eisfeldt J; Lindstrand A
Article: EMBO MOLECULAR MEDICINE. 2024;16(3):596-615
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans
Wang S; Nikamo P; Laasonen L; Gudbjornsson B; Ejstrup L; Iversen L; Lindqvist U; Alm JJ; Eisfeldt J; Zheng X; Catrina S-B; Taylan F; Vaz R; Stahle M; Tapia-Paez I
Article: NATURE COMMUNICATIONS. 2023;14(1):5164
Long-read whole-genome analysis of human single cells
Hard J; Mold JE; Eisfeldt J; Tellgren-Roth C; Haggqvist S; Bunikis I; Contreras-Lopez O; Chin C-S; Nordlund J; Rubin C-J; Feuk L; Michaelsson J; Ameur A
Article: SCIENTIFIC REPORTS. 2023;13(1):13589
Insights into cellular behavior and micromolecular communication in urothelial micrografts
Juul N; Willacy O; Mamand DR; El Andaloussi S; Eisfeldt J; Chamorro CI; Fossum M
Article: FRONTIERS IN ONCOLOGY. 2023;13:1217712
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
Rezayee F; Eisfeldt J; Skaftason A; Ofverholm I; Sayyab S; Syvanen AC; Maqbool K; Lilljebjorn H; Johansson B; Olsson-Arvidsson L; Pietras CO; Staffas A; Palmqvist L; Fioretos T; Cavelier L; Fogelstrand L; Nordlund J; Wirta V; Rosenquist R; Barbany G
Article: FRONTIERS IN GENETICS. 2023;14:1176626
Discovery of non-reference processed pseudogenes in the Swedish population
de Boer ETB; Saether KB; Eisfeldt J
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: HUMAN MUTATION. 2022;43(11):1567-1575
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Eisfeldt J; Rezayee F; Pettersson M; Lagerstedt K; Malmgren H; Falk A; Grigelioniene G; Lindstrand A
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: BLOOD ADVANCES. 2022;6(17):5009-5023
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Pena-Perez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Mansson R
Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt J; Schuy J; Stattin E-L; Kvarnung M; Falk A; Feuk L; Lindstrand A
Article: JBMR PLUS. 2022;6(8):e10660
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Muurinen M; Taylan F; Tournis S; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Makitie O; Costantini A
Article: BJU INTERNATIONAL. 2022;130(1):92-101
Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma
Grahn A; Eisfeldt J; Malm C; Foroughi Asl H; Jaremko G; Tham E; Brehmer M
Article: BLOOD ADVANCES. 2022;6(7):2275-2289
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
Bang B; Eisfeldt J; Barbany G; Harila-Saari A; Heyman M; Zachariadis V; Taylan F; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2021;185(12):3593-3600
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Zhang C; Mazzeu JF; Eisfeldt J; Grochowski CM; White J; Akdemir ZC; Jhangiani SN; Muzny DM; Gibbs RA; Lindstrand A; Lupski JR; Sutton VR; Carvalho CMB
Article: SCIENTIFIC REPORTS. 2021;11(1):21881
A database on differentially expressed microRNAs during rodent bladder healing
Chamorro CI; Eisfeldt J; Willacy O; Juul N; Fossum M
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: ACTA NEUROPATHOLOGICA COMMUNICATIONS. 2021;9(1):132
Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
Natarajan K; Eisfeldt J; Hammond M; Laffita-Mesa JM; Patra K; Khoshnood B; Oijerstedt L; Graff C
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes
Sahlen P; Spalinskas R; Asad S; Das Mahapatra K; Hojer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Stahle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjold M; Taylan F; Bradley M; Tapia-Paez I
Article: 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: FRONTIERS IN GENETICS. 2021;12:708348
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
Grochowski CM; Krepischi ACV; Eisfeldt J; Du H; Bertola DR; Oliveira D; Costa SS; Lupski JR; Lindstrand A; Carvalho CMB
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: 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: 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: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2020;182(5):1143-1151
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
Article: BMC MEDICAL GENETICS. 2020;21(1):87
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Bieder A; Einarsdottir E; Matsson H; Nilsson HE; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Paez I
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: F1000RESEARCH. 2020;9:63
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.
Garcia M; Juhos S; Larsson M; Olason PI; Martin M; Eisfeldt J; DiLorenzo S; Sandgren J; Díaz De Ståhl T; Ewels P; Wirta V; Nistér M; Käller M; Nystedt B
Article: PLOS ONE. 2020;15(2):e0228622
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl S; Pettersson M; Eisfeldt J; Schroder AK; Wickstrom R; Fahnehjelm KT; Anderlid B-M; Lindstrand A
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: 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: 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: MUTATION RESEARCH - FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
Pettersson M; Eisfeldt J; Lundberg ES; Lundin J; 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: HUMAN MUTATION. 2018;39(4):495-505
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Hofmeister W; Pettersson M; Kurtoglu D; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand 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: 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
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: 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
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Thesis / dissertation: 2019
Characterization of structural chromosomal variants by massively parallel sequencing
Eisfeldt, Jesper

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

Degree Of Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2019

Supervisor

Esmee ten Berk de Boer, 2023
Kristine Bilgrav Saether, 2021
Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders

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