Erika Souche

Center for Human Genetics — United States

Environmental Science · Physical Sciences

20h-index2.6kcitations96works3.12yr avg
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Research Topics

Aquatic Ecosystems and Phytoplankton Dynamics(19), Genomics and Rare Diseases(17), Fish Ecology and Management Studies(11), Glycosylation and Glycoproteins Research(10), Cancer Genomics and Diagnostics(9)

Publications96 total

The first population scale compendium of complete mitochondrial genomes from Flanders, Belgium
Forensic Science International Genetics·2025
<scp>ATP6AP2</scp> ‐Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female
Journal of Inherited Metabolic Disease·2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Genome Medicine·2025· 21 citedOpen Access
Genetic modulators of diversity in biological expression of sickle cell anemia in patients from democratic republic of Congo
Mediterranean Journal of Hematology and Infectious Diseases·2024· 2 citedOpen Access
MIP4IBD: An Easy and Rapid Genotyping-by-Sequencing Assay for the Inflammatory Bowel Diseases Risk Loci
Inflammatory Bowel Diseases·2024· 1 cited
Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome
Genome Research·2024· 3 citedOpen Access
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells
Journal of Biological Chemistry·2024· 4 citedOpen Access
Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
2024Open Access
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene
2024Open Access
Nanopore sequencing-based episignature detection
2024· 3 citedOpen Access
Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome
2024Open Access
Gollop–Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11
Genes·2024· 3 citedOpen Access
A rare Gollop-Wolfgang Syndrome linked to a mutation in Wnt11
Research Square (Research Square)·2023Open Access
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Genetics in Medicine·2022· 9 cited
Recommendations for whole genome sequencing in diagnostics for rare diseases
European Journal of Human Genetics·2022· 115 citedOpen Access
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
Human Molecular Genetics·2022· 14 citedOpen Access
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
The American Journal of Human Genetics·2021· 14 citedOpen Access
<scp>SLC37A4‐CDG</scp>: Second patient
JIMD Reports·2021· 10 citedOpen Access
Mo1118 DEVELOPMENT OF AN EASY AND RAPID GENOTYPING ASSAY FOR THE VALIDATED IBD RISK LOCI
Gastroenterology·2020
Additional file 7 of Single nucleotide polymorphism discovery from expressed sequence tags in the waterflea Daphnia magna
Figshare·2020Open Access
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Frequent Co-authors

Gert Matthijs(17), Joris Vermeesch(10), Koenraad Devriendt(9), Valérie Race(8), Anniek Corveleyn(7), Daisy Rymen(7), Jaak Jaeken(5), Liesbeth Keldermans(5), Jeroen Breckpot(5), Jeroen Van Houdt(5), Luisa Orsini(5), Mieke Jansen(5), Sarah Geldof(5), Luc De Meester(5), Sebastian Eck(4), Marc Sturm(4), Helger G. Yntema(4), Hans Scheffer(4), Dominique Clermont(4), Christiane Bouchier(4)