Jean-marc M. Costa
11 Rue De L'Équerre
95310, France
95310, France
Last Updated: 09/26/2026
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Found 41 publications
Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.
Journal: American journal of medical genetics. Part A
Published: May 02, 2024
Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.
Journal: Prenatal diagnosis
Published: January 06, 2024
The Molecular Identification and Antifungal Susceptibility of Clinical Isolates of Aspergillus Section Flavi from Three French Hospitals.
Journal: Microorganisms
Published: September 07, 2023
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Journal: Genes
Published: September 24, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Journal: European journal of human genetics : EJHG
Published: December 14, 2021
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 30, 2021
A NGS-based Blood Test For the Diagnosis of Invasive HPV-associated Carcinomas with Extensive Viral Genomic Characterization.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: January 26, 2021
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Journal: Clinical genetics
Published: September 17, 2019
Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening.
Journal: Journal of translational medicine
Published: August 03, 2019
Last Updated: 09/26/2026