Yosra Bouyacoub

Tunis, 1002, Tunisia

Last Updated: 09/26/2026

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Found 25 publications

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

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

Published: December 08, 2025

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.

Journal: Neuropediatrics

Published: June 30, 2021

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Journal: Frontiers in genetics

Published: February 07, 2021

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Journal: Herz

Published: August 15, 2019

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.

Journal: Ophthalmic genetics

Published: July 20, 2019

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Journal: Neurology. Genetics

Published: May 22, 2018

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

Journal: Journal of dermatological science

Published: September 16, 2016

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Journal: European journal of medical genetics

Published: August 17, 2016

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Journal: American journal of human genetics

Published: February 18, 2016

Comorbidity in the Tunisian population.

Comorbidity in the Tunisian population.

Journal: Clinical genetics

Published: March 18, 2015

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.

Journal: American journal of human biology : the official journal of the Human Biology Council

Published: December 17, 2014

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Journal: PloS one

Published: October 06, 2014

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Last Updated: 09/26/2026