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European Journal of Human Genetics : EJHG
|
February 23, 2026
Flexible and rapid validation of structural variation using adaptive sampling
Aida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
Scientific Reports
|
December 5, 2024
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Marlene Ek, Malin Kvarnung, Maria Pettersson, et al.
Plos One
|
February 4, 2021
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients
Karin Wallander, Jesper Eisfeldt, Mats Lindblad, et al.
Acta Neuropathologica Communications
|
August 4, 2021
Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
Karthick Natarajan, Jesper Eisfeldt, Maria Hammond, et al.
Scientific Reports
|
April 18, 2024
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Esmee Ten Berk de Boer, Adam Ameur, Ignas Bunikis, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, et al.
JBMR Plus
|
August 22, 2022
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Mari Muurinen, Fulya Taylan, Symeon Tournis, et al.
Genome Research
|
October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Jesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
BJU International
|
December 10, 2024
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples
Tomas Andri Axelsson, Filip Sydén, Jesper Eisfeldt, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 68) with videos related to
Sort By:
Page
of 7
European Journal of Human Genetics : EJHG
|
February 23, 2026
Flexible and rapid validation of structural variation using adaptive sampling
Aida Paivandy, Felix Lenner, Jesper Eisfeldt, et al.
Scientific Reports
|
December 5, 2024
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
Marlene Ek, Malin Kvarnung, Maria Pettersson, et al.
Plos One
|
February 4, 2021
Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients
Karin Wallander, Jesper Eisfeldt, Mats Lindblad, et al.
Acta Neuropathologica Communications
|
August 4, 2021
Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
Karthick Natarajan, Jesper Eisfeldt, Maria Hammond, et al.
Scientific Reports
|
April 18, 2024
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Esmee Ten Berk de Boer, Adam Ameur, Ignas Bunikis, et al.
American Journal of Medical Genetics. Part A
|
March 4, 2020
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, et al.
Plos One
|
February 11, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, et al.
JBMR Plus
|
August 22, 2022
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Mari Muurinen, Fulya Taylan, Symeon Tournis, et al.
Genome Research
|
October 29, 2024
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Jesper Eisfeldt, Edward J Higginbotham, Felix Lenner, et al.
BJU International
|
December 10, 2024
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples
Tomas Andri Axelsson, Filip Sydén, Jesper Eisfeldt, et al.
Page
of 7