Sara Cabet - Concepedia

Author

Sara Cabet

Université Claude Bernard Lyon 1 ORCID

Also Known As

Cabet, S., Mathilde Cabart, S. Cabet, Sara Cabet

Publications

347

Citations

H-Index

Concepts

All Affiliations

Université Claude Bernard Lyon 1 Hospices Civils de Lyon Hôpital Femme Mère Enfant Baylor College of Medicine Inserm

About

Sara Cabet is an author at Université Claude Bernard Lyon 1 specializing in medicine, developmental biology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	179
2	Health Sciences	1	1	13
3	Social Sciences	1	1	22
4	Molecular Genetics	1	1	29
5	Molecular Medicine	1	1	17

Sara Cabet

Publications

195

Citations

H-Index

Page 1

	Year	Citations
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, The American Journal of Human Genetics Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGenetics	2021	80
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants Nicolas Chatron, Sara Cabet, Eudéline Alix, Brain Developmental BiologyDisease MechanismMendelian DisorderBrain DevelopmentMedicine	2019	29
Two different prenatal imaging cerebral patterns of tubulinopathy Sara Cabet, K. Karl, Cathérine Garel, Ultrasound in Obstetrics and Gynecology Affected FetusesSocial SciencesEmbryologyTubulin GeneNeurology	2020	22
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment Sara Cabet, Gaëtan Lesca, Audrey Labalme, European Journal of Medical Genetics Developmental BiologySyndromic AutismMedicineGeneticsGenetic Disorder	2020	18
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant Lucas W. Gauthier, Nicolas Chatron, Sara Cabet, European Journal of Medical Genetics Translational MedicinePathologyNovel PatientMedicineRadiation Oncology	2021	17
Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases Caroline Bartholmot, Sara Cabet, Mona Massoud, Fetal Diagnosis and Therapy	2021	16
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series Léo Pomar, Jose H. Ochoa, Sara Cabet, Prenatal Diagnosis DiagnosisCorpus CallosumVascular ImagingCongenital Heart DefectNeurology	2022	13

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