Jesper Eisfeldt

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 12

Top Topics

Autism Spectrum Disorder

Top Venues

This page only lists publications with an associated author ORCID identifier.

Publications

Kristine Bilgrav Saether, Daniel Nilsson, Håkan Thonberg, Emma Tham, Adam Ameur, Jesper Eisfeldt, Anna Lindstrand
Transposable element insertions in 1000 Swedish individuals. PloS one 18 (7) (2023)
Benedicte Bang, Jesper Eisfeldt, Gisela Barbany, Arja H Harila-Saari, Mats Heyman, Vasilios Zachariadis, Fulya Taylan, Ann Nordgren
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. Blood advances 6 (7) (2022)
Jesper Eisfeldt, Fatemah Rezayee, Maria Pettersson, Kristina Lagerstedt, Helena Malmgren, Anna Falk, Giedre Grigelioniene, Anna Lindstrand
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation. Human mutation 43 (11) (2022)
Maxime Ulysse Garcia, Szilveszter Juhos, Malin Larsson, Pall I Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip A Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Research 9 (2020)
Maxime Ulysse Garcia, Szilveszter Juhos, Malin Larsson, Pall I Olason, Marcel Martin, Jesper Eisfeldt, Sebastian DiLorenzo, Johanna Sandgren, Teresita Díaz De Ståhl, Philip A Ewels, Valtteri Wirta, Monica Nistér, Max Käller, Björn Nystedt
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants. F1000Research (2020)
Jesper Eisfeldt, Maria Pettersson, Anna Petri, Daniel Nilsson, Lars Feuk, Anna Lindstrand
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. Human genetics 140 (5) (2020)
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman, Sau W Cheung, Ana C V Krepischi, Carla Rosenberg, James R. Lupski, Jesper Ottosson, Lovisa Lovmar, Jelena Gacic, Elisabeth S Lundberg, Daniel Nilsson, Cláudia M B Carvalho, Anna Lindstrand
Cytogenetically visible inversions are formed by multiple molecular mechanisms. Human mutation 41 (11) (2020)
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Cláudia M B Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human mutation 39 (10) (2018)
Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, Anna Lindstrand
AMYCNE: Confident copy number assessment using whole genome sequencing data. PloS one 13 (3) (2018)
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outimaija Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 14 (11) (2018)
Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. F1000Research (2017)
Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand
TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data. F1000Research 6 (2017)