Geraldine Helas-Joly
Rouen, France
Last Updated: 09/26/2026
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Found 20 publications
Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.
Journal: Human reproduction (Oxford, England)
Published: March 26, 2025
First prenatal case of jumping-like translocations: unraveling complex chromosomal rearrangements.
Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Published: October 02, 2024
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Journal: American journal of medical genetics. Part A
Published: July 22, 2023
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Journal: American journal of medical genetics. Part A
Published: May 29, 2022
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Journal: Stem cell research
Published: August 02, 2021
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Journal: American journal of medical genetics. Part A
Published: December 23, 2020
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: December 28, 2019
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Journal: Translational psychiatry
Published: December 02, 2019
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Journal: European journal of human genetics : EJHG
Published: November 22, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Journal: Journal of medical genetics
Published: October 02, 2018
Last Updated: 09/26/2026