Fabienne Hanin-Jabot

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Journal: Investigative ophthalmology & visual science

Published: August 20, 2025

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Journal: Genome medicine

Published: July 08, 2025

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 19, 2024

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Journal: International journal of molecular sciences

Published: April 04, 2024

Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: December 12, 2022

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

Journal: Human reproduction (Oxford, England)

Published: December 04, 2022

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Journal: The Journal of clinical investigation

Published: June 01, 2022

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: April 28, 2022

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Journal: Journal of clinical immunology

Published: September 28, 2021

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Journal: Genes

Published: January 18, 2021

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

Journal: Journal of inherited metabolic disease

Published: December 08, 2020

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

Journal: PLoS genetics

Published: October 11, 2020

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy.

Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

Human C-terminal CUBN﻿﻿ variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN﻿﻿ variants associate with chronic proteinuria and normal renal function.

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.