| 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, I Chakchouk, Q Ma, M Bensaid, A Desmidt, N Turki, D Yan, ... Human molecular genetics 24 (9), 2482-2491, 2015 | 104 | 2015 |
| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss EM Richard, RLP Santos‐Cortez, R Faridi, AU Rehman, K Lee, ... Human mutation 40 (1), 53-72, 2019 | 65 | 2019 |
| Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability RLP Santos-Cortez, V Khan, FS Khan, ZN Mughal, I Chakchouk, K Lee, ... Human genetics 137, 735-752, 2018 | 65 | 2018 |
| FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice I Schrauwen, APJ Giese, A Aziz, DT Lafont, I Chakchouk, ... Journal of Bone and Mineral Research 34 (2), 375-386, 2019 | 40 | 2019 |
| Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance K Liaqat, I Schrauwen, SI Raza, K Lee, S Hussain, I Chakchouk, A Nasir, ... Journal of human genetics 64 (2), 153-160, 2019 | 39 | 2019 |
| DNA methylation dynamics in the female germline and maternal-effect mutations that disrupt genomic imprinting Z Anvar, I Chakchouk, H Demond, M Sharif, G Kelsey, IB Van den Veyver Genes 12 (8), 1214, 2021 | 35 | 2021 |
| MYO3A causes human dominant deafness and interacts with protocadherin 15‐CD2 isoform M Grati, D Yan, MH Raval, T Walsh, Q Ma, I Chakchouk, ... Human mutation 37 (5), 481-487, 2016 | 35 | 2016 |
| A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss … M Ben Said, M Grati, T Ishimoto, B Zou, I Chakchouk, Q Ma, Q Yao, ... Human genetics 135, 513-524, 2016 | 34 | 2016 |
| Overview and recent developments in cell‐based noninvasive prenatal testing L Vossaert, I Chakchouk, R Zemet, IB Van den Veyver Prenatal diagnosis 41 (10), 1202-1214, 2021 | 31 | 2021 |
| Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53 I Chakchouk, M Grati, G Bademci, M Bensaid, Q Ma, A Chakroun, J Foster, ... Molecular Genetics and Genomics 290, 1327-1334, 2015 | 31 | 2015 |
| Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment I Schrauwen, I Chakchouk, A Acharya, K Liaqat, Irfanullah, DA Nickerson, ... BMC medical genetics 19, 1-6, 2018 | 29 | 2018 |
| Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry I Chakchouk, D Zhang, Z Zhang, LC Francioli, RLP Santos-Cortez, ... European Journal of Human Genetics 27 (9), 1456-1465, 2019 | 25 | 2019 |
| Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa Z Latif, I Chakchouk, I Schrauwen, K Lee, RLP Santos-Cortez, I Abbe, ... Investigative ophthalmology & visual science 59 (11), 4552-4557, 2018 | 24 | 2018 |
| A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 MB Said, M Grati, T Ishimoto, B Zou, I Chakchouk, Q Ma, Q Yao, ... Human genetics 135 (5), 513, 2016 | 22 | 2016 |
| NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries I Chakchouk, MB Said, F Jbeli, R Benmarzoug, S Loukil, I Smeti, ... The Journal of Molecular Diagnostics 17 (2), 155-161, 2015 | 20 | 2015 |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ... Human genetics 138, 593-600, 2019 | 19 | 2019 |
| A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment I Schrauwen, I Chakchouk, K Liaqat, A Jan, A Nasir, S Hussain, ... Human genetics 137, 471-478, 2018 | 19 | 2018 |
| Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma I Schrauwen, BI Melegh, I Chakchouk, A Acharya, A Nasir, A Poston, ... European Journal of Human Genetics 27 (6), 869-878, 2019 | 15 | 2019 |
| Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific Defect S Arian, J Rubin, I Chakchouk, M Sharif, SK Mahadevan, H Erfani, ... Reproductive Sciences 28 (7), 1850-1865, 2021 | 7 | 2021 |
| Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment K Liaqat, I Chiu, K Lee, I Chakchouk, PB Andrade-Elizondo, ... Journal of human genetics 63 (11), 1099-1107, 2018 | 5 | 2018 |
Masmoudi SaberCentre de Biotechnologie de Sfax在 cbs.rnrt.tn 的电子邮件经过验证
Masmoudi SaberCentre de Biotechnologie de Sfax在 cbs.rnrt.tn 的电子邮件经过验证
M'hamed GratiStaff Scientist