Estelle Talouarn - Publications

GDIv2: improving variant selection from human exomes.

Journal: Bioinformatics advances

Published: June 27, 2025

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 27, 2025

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Journal: The Journal of experimental medicine

Published: April 22, 2024

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: Genome medicine

Published: January 06, 2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Journal: The Journal of experimental medicine

Published: November 10, 2023

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Journal: Science (New York, N.Y.)

Published: December 20, 2022

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: medRxiv : the preprint server for health sciences

Published: November 03, 2022

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: Genome medicine

Published: September 15, 2022

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Journal: Science immunology

Published: July 13, 2021

VarGoats project: a dataset of 1159 whole-genome sequences to dissect Capra hircus global diversity.

Journal: Genetics, selection, evolution : GSE

Published: December 03, 2020

Using sequence variants of a QTL region improves the accuracy of genomic evaluation in French Saanen goats.

Journal: Journal of dairy science

Published: May 04, 2020

Genome wide association analysis on semen volume and milk yield using different strategies of imputation to whole genome sequence in French dairy goats.

Journal: BMC genetics

Published: November 28, 2019