Sheikh Riazuddin

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 18

Top Topics

Intellectual Disability

Botulinum Toxin

Top Venues

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics 105 (5) (2024)
Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Kausar Malik, Khushbakht Fatima, Asma A Khan, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. Genes 15 (5) (2024)
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid, Cristina Fenollar-Ferrer, Michael Hoa, Sheikh Riazuddin, Thomas B Friedman
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice. Genes 15 (7) (2024)
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid, Cristina Fenollar-Ferrer, Michael Hoa, Sheikh Riazuddin, Thomas B Friedman
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice. Genes 15 (7) (2024)
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics (2024)
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics 105 (5) (2024)
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics 105 (5) (2024)
Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Kausar Malik, Khushbakht Fatima, Asma A Khan, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. Genes 15 (5) (2024)
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid, Cristina Fenollar-Ferrer, Michael Hoa, Sheikh Riazuddin, Thomas B Friedman
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice. Genes 15 (7) (2024)
Rabia Faridi, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J Morell, Elizabeth Wilson, Ying Xia, Tanveer Ahmed Qaiser, Muhammad Rashid, Cristina Fenollar-Ferrer, Michael Hoa, Sheikh Riazuddin, Thomas B Friedman
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice. Genes 15 (7) (2024)
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics 105 (5) (2024)
Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Kausar Malik, Khushbakht Fatima, Asma A Khan, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. Genes 15 (5) (2024)
Muhammad A Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I Majeed, Kausar Malik, Khushbakht Fatima, Asma A Khan, Zubair M Ahmed, Sheikh Riazuddin, Saima Riazuddin
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. Genes 15 (5) (2024)
Rabia Faridi, Pamela Stratton, Noemi Salmeri, Robert J Morell, Asma Ali Khan, Muhammad A Usmani, William G Newman, Sheikh Riazuddin, Thomas B Friedman
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome. Clinical genetics 105 (5) (2024)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura A G Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M Leal, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon Akanzuwine Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura Anne Goodell Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Regie Lyn P Santos-Cortez, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert B Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, Raymond T O'Keefe, Shoujun Gu, Zunaira Munir, Asma Ali Khan, Sheikh Riazuddin, Michael Hoa, Sadaf Naz, William G Newman, Thomas B Friedman
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Human genetics (2021)
Risa Tona, Ivan A Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A Khan, Mohsin Shahzad, Robert J Morell, Shoujun Gu, Michael Hoa, Lijin Dong, Akira Ishiyama, Inna A Belyantseva, Sheikh Riazuddin, Thomas B Friedman
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. Genes 11 (10) (2020)