Laetitia Gouas
Clermont-ferrand, 63003, France
Last Updated: 09/26/2026
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Found 27 publications
From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.
Journal: British journal of haematology
Published: March 05, 2026
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Journal: Diagnostics (Basel, Switzerland)
Published: October 31, 2023
Optical genome mapping for prenatal diagnosis: A prospective study.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 08, 2023
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?
Journal: Human molecular genetics
Published: December 10, 2021
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.
Journal: European journal of medical genetics
Published: September 30, 2020
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.
Journal: Annales de biologie clinique
Published: September 16, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Journal: European journal of human genetics : EJHG
Published: January 29, 2019
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.
Journal: Reproductive biomedicine online
Published: August 11, 2017
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.
Journal: Chromosoma
Published: May 30, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Journal: NPJ genomic medicine
Published: March 24, 2017
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: January 14, 2016
Last Updated: 09/26/2026