Emilie Yahya-Ait

Lille, 59000, France

Last Updated: 09/26/2026

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Found 11 publications

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Journal: Human genomics

Published: January 23, 2026

Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.

Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.

Journal: Annales d'endocrinologie

Published: March 31, 2025

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Journal: Epilepsia

Published: February 25, 2025

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Journal: European journal of medical genetics

Published: October 09, 2024

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

Journal: Journal of medical genetics

Published: May 30, 2024

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2024

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 06, 2024

TRIT1 deficiency: Two novel patients with four novel variants.

TRIT1 deficiency: Two novel patients with four novel variants.

Journal: European journal of medical genetics

Published: April 25, 2022

Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

Journal: Endocrine connections

Published: September 17, 2020

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Journal: Clinical genetics

Published: April 27, 2020

Showing 1-11 of 11

Last Updated: 09/26/2026