Publications by authors named "Imen Chakchouk"

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Maternal loss of mouse Nlrp2 alters the transcriptome and DNA methylome in GV oocytes and impairs zygotic genome activation in embryos.
Zahra Anvar, Michael D Jochum, Imen Chakchouk, Momal Sharif, Hannah Demond

Clin Epigenetics· June 2025

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Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytes.
Zahra Anvar, Michael D Jochum, Imen Chakchouk, Momal Sharif, Hannah Demond

Res Sq· June 2024

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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, Sangeetha Mahadevan, Li Su

Reprod Sci· January 2024

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Loss of the Maternal Effect Gene Nlrp2 Alters the Transcriptome of Ovulated Mouse Oocytes and Impacts Expression of Histone Demethylase KDM1B.
Zahra Anvar, Imen Chakchouk, Momal Sharif, Sangeetha Mahadevan, Eleni Theodora Nasiotis

Reprod Sci· September 2023

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Molecular insights into kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
Amal Souissi, Dorra Abdelmalek Driss, Imen Chakchouk, Mariem Ben Said, Ikhlas Ben Ayed

J Biomol Struct Dyn· December 2022

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Overview and recent developments in cell-based noninvasive prenatal testing.
Liesbeth Vossaert, Imen Chakchouk, Roni Zemet, Ignatia B Van den Veyver

Prenat Diagn· September 2021

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DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Zahra Anvar, Imen Chakchouk, Hannah Demond, Momal Sharif, Gavin Kelsey

Genes (Basel)· August 2021

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Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific Defect.
Sara Arian, Jessica Rubin, Imen Chakchouk, Momal Sharif, Sangeetha K Mahadevan

Reprod Sci· July 2021

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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C Francioli, Regie Lyn P Santos-Cortez

Eur J Hum Genet· September 2019

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Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Isabelle Schrauwen, Béla I Melegh, Imen Chakchouk, Anushree Acharya, Abdul Nasir

Eur J Hum Genet· June 2019

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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain, Imen Chakchouk

Hum Genet· June 2019

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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Isabelle Schrauwen, Arnaud Pj Giese, Abdul Aziz, David Tino Lafont, Imen Chakchouk

J Bone Miner Res· February 2019

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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
Khurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, Kwanghyuk Lee, Shabir Hussain, Imen Chakchouk

J Hum Genet· February 2019

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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, Kwanghyuk Lee, Imen Chakchouk

Hum Mutat· January 2019

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Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk, Paula B Andrade-Elizondo

J Hum Genet· November 2018

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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, Zaib-Un-Nisa Mughal, Imen Chakchouk

Hum Genet· September 2018

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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Zahid Latif, Imen Chakchouk, Isabelle Schrauwen, Kwanghyuk Lee, Regie Lyn P Santos-Cortez

Invest Ophthalmol Vis Sci· September 2018

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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
Isabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, Abid Jan, Abdul Nasir

Hum Genet· July 2018

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Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah

BMC Med Genet· July 2018

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MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
M'hamed Grati, Denise Yan, Manmeet H Raval, Tom Walsh, Qi Ma, Imen Chakchouk

Hum Mutat· May 2016

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A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Mariem Ben Said, M'hamed Grati, Takahiro Ishimoto, Bing Zou, Imen Chakchouk

Hum Genet· May 2016

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Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Imen Chakchouk, M'hamed Grati, Guney Bademci, Mariem Bensaid, Qi Ma

Mol Genet Genomics· August 2015

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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
M'hamed Grati, Imen Chakchouk, Qi Ma, Mariem Bensaid, Alexandra Desmidt

Hum Mol Genet· May 2015

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NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Imen Chakchouk, Mariem Ben Said, Fida Jbeli, Riadh Benmarzoug, Salma Loukil

J Mol Diagn· March 2015

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