List of works - Sophie Nambot - Paulina

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List of works by Sophie Nambot

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

scientific article

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

scientific article

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

scientific article published on 11 April 2020

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

scientific article published on 30 April 2019

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

scientific article published on 6 October 2022

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

scientific article published on 26 April 2020