Cécile Méjécase - Concepedia

Author

Cécile Méjécase

University College London ORCID

Also Known As

C. Méjécase, Cécile Méjécase

Publications

487

Citations

H-Index

Concepts

All Affiliations

University College London Inserm Centre hospitalier national d'ophtalmologie des Quinze-Vingts Sorbonne Université Institut de la Vision

About

Cécile Méjécase is an author at University College London specializing in ophthalmology, medicine, and biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	28
2	Health Sciences	1	1	11
3	Biology	1	1	17
4	Cell Biology	1	1	11
5	Molecular Genetics	1	1	17

Cécile Méjécase

Publications

295

Citations

H-Index

Page 1

	Year	Citations
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, JAMA Ophthalmology	2021	42
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease Marco Nassisi, Saddek Mohand‐Saïd, Camille Andrieu, International Journal of Molecular Sciences	2019	39
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in<i>PDE6A</i>and<i>PDE6B</i> Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, JAMA Ophthalmology	2019	35
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort Marco Nassisi, Saddek Mohand‐Saïd, Claire‐Marie Dhaenens, International Journal of Molecular Sciences	2018	29
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates Cécile Méjécase, Igor Kozák, Mariya Moosajee American Journal of Medical Genetics Part C Seminars in Medical Genetics	2020	23
Whole exome sequencing resolves complex phenotype and identifies <i>CC2D2A</i> mutations underlying non‐syndromic rod‐cone dystrophy Cécile Méjécase, Aurélie Hummel, Saddek Mohand‐Saïd, Clinical Genetics	2018	22
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy Cécile Méjécase, Caroline Laurent‐Coriat, Claudine Mayer, PLoS ONE BiologyPhotoreceptor CellMendelian DisorderOphthalmologyGenetic Disorder	2016	17
Ocular Phenotype Associated with DYRK1A Variants Cécile Méjécase, Christopher Way, Nicholas Owen, Genes	2021	16
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness Usman Mahmood, Cécile Méjécase, Syed Manazir Ali, Genes	2021	15
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy Christina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, Genetics in Medicine	2024	13

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