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Imen Chakchouk · SciRah

Researcher profile · Semantic Scholar

Imen Chakchouk

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Imen Chakchouk — researcher profile on SciRah

h-index: 16
Works: 29
Citations: 653

Most-cited papers

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
M. Grati, Imen Chakchouk, Qi Ma, Mariem Bensaid +11 more
2015Human Molecular Genetics97 citations Open access
Semantic Scholar
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Elodie M. Richard, R. L. Santos-Cortez, R. Faridi, A. Rehman +24 more
2018Human Mutation80 citations Open access
Semantic Scholar
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
R. L. Santos-Cortez, Valeed Khan, F. Khan, Z. Mughal +19 more
2018Human Genetics54 citations Open access
Semantic Scholar
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting
Z. Anvar, Imen Chakchouk, H. Demond, Momal Sharif +2 more
2021Genes49 citations Open access
Semantic Scholar
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
I. Schrauwen, A. Giese, A. Aziz, D. Lafont +14 more
2018Journal of Bone and Mineral Research41 citations Open access
Semantic Scholar
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
Khurram Liaqat, I. Schrauwen, S. I. Raza, Kwanghyuk Lee +13 more
2018Journal of Human Genetics40 citations Open access
Semantic Scholar
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60
M. Ben Said, M. Grati, Takahiro Ishimoto, Bing Zou +16 more
2016Human Genetics35 citations Open access
Semantic Scholar
MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform
M. Grati, D. Yan, M. H. Raval, T. Walsh +10 more
2016Human Mutation33 citations Open access
Semantic Scholar
Overview and recent developments in cell-based noninvasive prenatal testing
Liesbeth Vossaert, Imen Chakchouk, R. Zemet, I. B. Van den Veyver
2021Prenatal Diagnosis31 citations Open access
Semantic Scholar
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Imen Chakchouk, M. Grati, G. Bademci, Mariem Bensaid +12 more
2015Zeitschrift für Induktive Abstammungs- und Vererbungslehre30 citations Open access
Semantic Scholar
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
I. Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat +39 more
2018BMC Medical Genetics24 citations Open access
Semantic Scholar
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
Irfan Ullah, Naseebullah Kakar, I. Schrauwen, S. Hussain +21 more
2019Human Genetics23 citations Open access
Semantic Scholar
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Imen Chakchouk, M. Ben Said, Fida Jbeli, Riadh Benmarzoug +7 more
2015Journal of Molecular Diagnostics23 citations Open access
Semantic Scholar
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Imen Chakchouk, Di Zhang, Zhi-Hui Zhang, L. Francioli +3 more
2019European Journal of Human Genetics20 citations Open access
Semantic Scholar
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
I. Schrauwen, Imen Chakchouk, Khurram Liaqat, A. Jan +7 more
2018Human Genetics19 citations Open access
Semantic Scholar
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa
Z. Latif, Imen Chakchouk, I. Schrauwen, Kwanghyuk Lee +14 more
2018Investigative Ophthalmology and Visual Science16 citations Open access
Semantic Scholar
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
I. Schrauwen, B. Melegh, Imen Chakchouk, Anushree Acharya +8 more
2019European Journal of Human Genetics15 citations Open access
Semantic Scholar
Loss of the maternal effect gene Nlrp2 alters the transcriptome of ovulated mouse oocytes and impacts expression of histone demethylase KDM1B
Z. Anvar, Imen Chakchouk, Momal Sharif, S. Mahadevan +5 more
2023Reproductive Sciences7 citations
Semantic Scholar
Reproductive outcomes from maternal loss of Nlrp2 are not improved by IVF or embryo transfer consistent with oocyte-specific defect.
S. Arian, Jessica Rubin, Imen Chakchouk, Momal Sharif +7 more
2020Reproductive Sciences6 citations Open access
Semantic Scholar
Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment
Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk +10 more
2018Journal of Human Genetics4 citations Open access
Semantic Scholar
Maternal loss of mouse Nlrp2 alters the transcriptome and DNA methylome in GV oocytes and impairs zygotic genome activation in embryos
Zahra Anvar, M. Jochum, Imen Chakchouk, Momal Sharif +8 more
2025Clinical Epigenetics3 citations Open access
Semantic Scholar
Comparison of Four Protocols for In Vitro Differentiation of Human Embryonic Stem Cells into Trophoblast Lineages by BMP4 and Dual Inhibition of Activin/Nodal and FGF2 Signaling
Zahra Anvar, Imen Chakchouk, Momal Sharif, S. Mahadevan +5 more
2023Reproductive Sciences3 citations Open access
Semantic Scholar
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
A. Souissi, Dorra Abdelmalek Driss, Imen Chakchouk, M. Ben Said +6 more
2021Journal of Biomolecular Structure and Dynamics3 citations
Semantic Scholar
Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies
Momal Sharif, Zahra Anvar, Imen Chakchouk, Sara H. El-Dessouky +8 more
2025Biology of Reproduction1 citations Open access
Semantic Scholar
Whole-Genome Amplification on Single Circulating Trophoblast Cell.
Imen Chakchouk, I. B. Van den Veyver
2026Methods in molecular biology0 citations
Semantic Scholar
Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)
Stephanie Galloway, Jessica L. Giordano, Carrie J. Shawber, N. Chandler +33 more
2026Prenatal Diagnosis0 citations Open access
Semantic Scholar
Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytes
Zahra Anvar, M. Jochum, Imen Chakchouk, Momal Sharif +7 more
2024Research Square0 citations Open access
Semantic Scholar
LOSS OF THE MATERNAL EFFECT GENE Nlrp2 IMPAIRS EMBRYONIC AND EXTRA-EMBRYONIC DEVELOPMENT, UNVEILING A NOVEL CAUSE OF CONGENITAL ANOMALIES
Momal Sharif, Zahra Anvar, Imen Chakchouk, M. Jochum +1 more
2024Fertility and Sterility0 citations
Semantic Scholar
Gene Therapy for Hearing and Balance defects : How close are we ?
Alice Emptoz, S. Delmaghani, O. Akil, P. Avan +17 more
20160 citations
Semantic Scholar

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