Sandra Chantot‐Bastaraud
Fondation de Rothschild(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Sperm and Testicular Function, Genomics and Rare Diseases
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome(2015)217 cited
- → Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia(2019)183 cited
- → Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders(2009)160 cited
- → X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3(2017)151 cited
- → Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in theTITF1/NKX2-1gene(2012)125 cited
- → Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU(2017)118 cited
- → Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder(2007)109 cited
- → An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients(2016)108 cited
- → Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient(2012)104 cited