Erika Launay

Rennes, 35000, France

Last Updated: 09/26/2026

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Found 21 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL.

A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL.

Journal: Neurogenetics

Published: September 12, 2025

Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.

Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.

Journal: Journal of assisted reproduction and genetics

Published: April 29, 2025

SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.

SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.

Journal: Human reproduction (Oxford, England)

Published: January 21, 2025

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.

Journal: BMC pregnancy and childbirth

Published: September 02, 2024

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

Journal: American journal of medical genetics. Part A

Published: July 12, 2024

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Journal: Acta obstetricia et gynecologica Scandinavica

Published: June 25, 2024

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal: Journal of medical genetics

Published: January 05, 2024

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Journal: Human genetics

Published: November 30, 2023

Evaluation of a referral protocol to primary health care for patients eligible for health service access points following hospitalization

Evaluation of a referral protocol to primary health care for patients eligible for health service access points following hospitalization

Journal: Revue d'epidemiologie et de sante publique

Published: April 19, 2023

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.

Journal: The CRISPR journal

Published: January 11, 2023

Showing 1-12 of 21

Last Updated: 09/26/2026