Jesper Eisfeldt

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About me

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

Articles

Article: NATURE COMMUNICATIONS. 2023;14(1):5164

Long-read whole-genome analysis of human single cells.

Hård J; Mold JE; Eisfeldt J; Tellgren-Roth C; Häggqvist S; Bunikis I; Contreras-Lopez O; Chin C-S; Nordlund J; Rubin C-J; Feuk L; Michaëlsson 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; Andaloussi SE; Eisfeldt J; Chamorro CI; Fossum M
Article: PLOS ONE. 2023;18(7):e0289346

Transposable element insertions in 1000 Swedish individuals.

Bilgrav Saether K; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
Article: FRONTIERS IN GENETICS. 2023;14:1176626

Discovery of non-reference processed pseudogenes in the Swedish population.

Ten Berk de Boer E; Bilgrav Saether K; Eisfeldt J
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; Öfverholm I; Sayyab S; Syvänen AC; Maqbool K; Lilljebjörn 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;14:1174046

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

Garza Flores A; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjö 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; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadóttir 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; Johansson Soller M; 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.

Peña-Pérez 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; Månsson 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; Mäkitie 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.

Hammarsjö 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; Korņejeva 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; Öijerstedt L; Graff C
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: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2021;147(5):1742-1752

Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.

Sahlén P; Spalinskas R; Asad S; Mahapatra KD; Höjer P; Anil A; Eisfeldt J; Srivastava A; Nikamo P; Mukherjee A; Kim K-H; Bergman O; Ståhle M; Sonkoly E; Pivarcsi A; Wahlgren C-F; Nordenskjöld M; Taylan F; Bradley M; Tapia-Páez I
Article: GENOME MEDICINE. 2021;13(1):40

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

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: 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; Nordenskjöld M; Liedén 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-Páez 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: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30

Discovery of Novel Sequences in 1,000 Swedish Genomes.

Eisfeldt J; Mårtensson G; Ameur A; Nilsson D; Lindstrand A
Article: PLOS ONE. 2020;15(2):e0228622

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

Dahl S; Pettersson M; Eisfeldt J; Schröder AK; Wickström R; Teär Fahnehjelm K; Anderlid B-M; 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; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: 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; Käller M; Gruselius J; Nilsson D; Syk Lundberg E; 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; Mäkitie O; Nordgren A; Vezzi F; Wirta V; Käller M; Hjortshøj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tümer 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; Syk Lundberg E; 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; Hammarsjö 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; Kähäri AK; Lundin P; Che H; Thutkawkorapin J; Eisfeldt J; Lampa S; Dahlberg M; Hagberg J; Jareborg N; Liljedahl U; Jonasson I; Johansson Å; Feuk L; Lundeberg J; Syvänen A-C; Lundin S; Nilsson D; Nystedt B; Magnusson PK; 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 Gsα 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; Mäkitie O; Jüppner 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

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