Sophie Nambot

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton et al. · Human Molecular Genetics · 2019 · 90 citations · Full text

Genetics, Synaptic Transmission, Molecular Genetics +31

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Ange‐Line Bruel, Sophie Nambot, Virginie Quéré et al. · European Journal of Human Genetics · 2019 · 61 citations · Full text

Engineering, Singleton Exome Sequencing, Medicine +11

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Annie Ting Gee Chiu, Steven Lim Cho Pei, Christopher Chun Yu Mak et al. · Clinical Genetics · 2017 · 43 citations

Implementation and use of whole exome sequencing for metastatic solid cancer

Manon Réda, Corentin Richard, Aurélie Bertaut et al. · EBioMedicine · 2020 · 42 citations · Full text

Metastatic Solid Cancer, Tumor Heterogeneity, Medicine +12