Concepedia

Sophie Scheidecker

SS

22

Publications

1.1K

Citations

19

H-Index

2013

Active since

Affiliations

Inserm(Current)

Hôpitaux Universitaires de Strasbourg

Université de Strasbourg

Centre National de la Recherche Scientifique

Institut de génétique et de biologie moléculaire et cellulaire

Sophie Scheidecker is an author at Inserm specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2013–2023

22

Publications

22

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <i>BBIP1</i> (<i>BBS18</i>)

Sophie Scheidecker, Christelle Etard, Nathan W. Pierce et al. · Journal of Medical Genetics · 2013 · 137 citations · Full text

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 134 citations · Full text

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

Véronique Geoffroy, Thomas Guignard, Arnaud Kress et al. · Nucleic Acids Research · 2021 · 95 citations · Full text

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene et al. · Nature Communications · 2016 · 76 citations · Full text

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

Élise Schaefer, Corinne Stoetzel, Sophie Scheidecker et al. · Journal of Human Genetics · 2016 · 70 citations

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