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Géraldine Joly‐Hélas | doi.page

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Géraldine Joly‐Hélas

Inserm(FR)Normandie Université(FR)Université de Rouen Normandie(FR)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Congenital heart defects research, Chromosomal and Genetic Variations, Genomics and Rare Diseases

Most-Cited Works

→ Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation(2009)423 cited
→ Complex chromosomal rearrangement and intracytoplasmic sperm injection: A Case Report(2007)91 cited
→ The feasibility of fertility preservation in adolescents with Klinefelter syndrome(2013)91 cited
→ Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
→ The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies(2006)69 cited
→ ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder(2019)66 cited

→ A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes(2014)

59 cited

→ Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study(2016)52 cited

→ Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation(2020)42 cited

→ Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation(2006)42 cited