Imen Habibi

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 24 publications

Clinical and genetic basis of congenital gonadotropin deficiency.

Clinical and genetic basis of congenital gonadotropin deficiency.

Journal: Human reproduction open

Published: September 27, 2025

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Journal: European journal of human genetics : EJHG

Published: July 17, 2025

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Journal: BMC genomics

Published: October 23, 2023

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Journal: Human molecular genetics

Published: June 19, 2022

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Journal: Genes

Published: July 26, 2021

Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

Journal: La Tunisie medicale

Published: April 26, 2021

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant.

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant.

Journal: European journal of ophthalmology

Published: March 19, 2021

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.

Journal: Frontiers in cell and developmental biology

Published: November 03, 2020

Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.

Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.

Journal: Genes

Published: April 09, 2020

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.

Journal: Advances in experimental medicine and biology

Published: December 30, 2019

Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.

Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.

Journal: International ophthalmology

Published: November 07, 2019

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).

Journal: Genes

Published: October 30, 2019

Showing 1-12 of 24

Last Updated: 09/26/2026