Sophie Scheidecker - Concepedia

Author

Sophie Scheidecker

Inserm ORCID

Also Known As

Pauline Marzin, S Scheidecker, S. Scheidecker, Scheidecker, S., Scheidecker, Sophie, Sophie Monduc, Sophie Scheidecker

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

Inserm Hôpitaux Universitaires de Strasbourg Université de Strasbourg Centre National de la Recherche Scientifique Institut de génétique et de biologie moléculaire et cellulaire

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	402
2	Natural Sciences	2	2	88
3	Molecular Biology	2	2	88
4	Cell Biology	1	1	64
5	Cellular Physiology	1	1	64

Sophie Scheidecker

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
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, Journal of Medical Genetics	2013	137
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Carla Marini, Alessandro Porro, Agnès Rastetter, Brain	2018	134
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis Véronique Geoffroy, Thomas Guignard, Arnaud Kress, Nucleic Acids Research	2021	95
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Corinne Stoetzel, Séverine Bär, Johan‐Owen De Craene, Nature Communications	2016	76
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome Élise Schaefer, Corinne Stoetzel, Sophie Scheidecker, Journal of Human Genetics Novel MutationMendelian DisorderAutoimmune DiseaseGenetic DisorderGenetics	2016	70
Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, EMBO Molecular Medicine Molecular NeuroscienceGenetic DisorderMedicineNatural SciencesMolecular Biology	2020	65
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy Sophie Scheidecker, Christelle Etard, Laurence Haren, The American Journal of Human Genetics Developmental BiologyAutosomal-recessive MicrocephalyCytoskeletonγ-Tubulin Ring ComplexMedicine	2015	64
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Journal of Medical Genetics	2018	61
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Acta Neuropathologica Affected Female CarriersMendelian DisorderGenetic DisorderMedicineGenetics	2017	58
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome Sophie Scheidecker, Sarah Hull, Yaumara Perdomo, American Journal of Ophthalmology Cone-system DysfunctionOcular DiseaseRetinaOphthalmologyOptic Neuropathy	2015	38

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