Abdelkader Heddar

Paris, 94275, France

Last Updated: 09/26/2026

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Found 17 publications

Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.

Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.

Journal: Frontiers in genetics
Published: November 11, 2025

Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency.

Heterozygous PRDM9 truncating variant in a patient with primary ovarian insufficiency.

Journal: Journal of human genetics
Published: June 03, 2025

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Journal: International journal of molecular sciences
Published: October 16, 2024

Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.

Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.

Journal: International journal of molecular sciences
Published: September 23, 2024

Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.

Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.

Journal: Fertility and sterility
Published: April 13, 2022

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Journal: EBioMedicine
Published: February 09, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A
Published: December 15, 2021

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.

Journal: Clinical genetics
Published: August 26, 2021

Correction to: Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Correction to: Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Journal: Clinical and translational gastroenterology
Published: October 23, 2020

Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Power and Pitfalls of Computational Methods to Identify New Genes Responsible for Acute Liver Failure of Indeterminate Etiology in Adults.

Journal: Clinical and translational gastroenterology
Published: September 21, 2020

Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.

Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.

Journal: Human genetics
Published: May 19, 2020

Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?

Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?

Journal: Human mutation
Published: May 06, 2020
Showing 1-12 of 17

Last Updated: 09/26/2026