Sheikh Riazuddin
6PUBLICATIONS
39CO-AUTHORS
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Publications (6)
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|Jul 27, 2024
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki
|May 25, 2024
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad
|Mar 08, 2024
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.Rabia Faridi, Pamela Stratton, Noemi Salmeri
|Feb 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.Rabia Faridi, Rizwan Yousaf, Shoujun Gu
|Aug 02, 2021
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer
|Sep 29, 2020
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.Risa Tona, Ivan A Lopez, Cristina Fenollar-Ferrer
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Frequent Collaborators
5 joint publications
Rabia Faridi
5 joint publications
Thomas B Friedman
3 joint publications
Robert J Morell
3 joint publications
Michael Hoa
2 joint publications
Cristina Fenollar-Ferrer
2 joint publications
Sayaka Inagaki
2 joint publications
William G Newman
1 joint publications
Claudio Anselmi
1 joint publications
Mohsin Shahzad
1 joint publications
Muhammad Rashid
