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Sheikh Riazuddin

6PUBLICATIONS

39CO-AUTHORS

Gene mappingGenetic immunologyNeonatologyNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)

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Publications (6)

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|Jul 27, 2024

Deafness DFNB128 Associated with a Recessive Variant of Human <i>MAP3K1</i> Recapitulates Hearing Loss of <i>Map3k1</i>-Deficient Mice.

Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki

|May 25, 2024

A Missense Variant in <i>HACE1</i> 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 <i>TBC1D24</i> 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

Frequent Collaborators

5 joint publications

Rabia Faridi

5 joint publications

Thomas B Friedman

3 joint publications

Robert J Morell

3 joint publications

Michael Hoa

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