Rabia Faridi

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Venues

Clinical genetics

Genes

Human mutation

European journal of human genetics : EJHG

University of the Punjab

University of the Punjab/National Institute on Deafness and Other Communication Disorders, National Institutes of Health (PHD)

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

Affiliation History

University of the Punjab Jul 01 2012 - Sep 01 2014

Pakistan

Research associate :: University College of Pharmacy

Education History

University of the Punjab/National Institute on Deafness and Other Communication Disorders, National Institutes of Health Oct 15 2013 - Oct 01 2018

Pakistan

PHD :: Centre of Excellence in Molecular Biology

University of the Punjab Aug 06 2005 - Dec 09 2010

Pakistan

PHD :: University College of Pharmacy

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)
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)
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)
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 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)
Adebolajo A Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J Morell, Regie Lyn P Santos-Cortez, Thomas B Friedman, Andrew J Griffith, Isabelle Roux
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG (2021)
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)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Bashir, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (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)
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, Kwanghyuk Lee, Mohsin Shahzad, Anushree Acharya, Asma A Khan, Ayesha Imtiaz, Imen Chakchouk, Christina Takla, Izoduwa Abbe, Maria Rafeeq, Khurram Liaqat, Taimur Chaudhry, Michael J Bamshad, Deborah A Nickerson, null null, Isabelle Schrauwen, Shaheen N Khan, Robert J Morell, Saba Zafar, Muhammad Ansar, Zubair M Ahmed, Wasim Ahmad, Sheikh Riazuddin, Thomas B Friedman, Regie Lyn P Santos-Cortez, Saima Riazuddin
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human mutation 40 (1) (2018)
Rabia Faridi, Risa Tona, Alessandra Brofferio, Michael Hoa, Rafal Olszewski, Isabelle Schrauwen, Muhammad Z K Assir, Akhtar A Bandesha, Asma A Khan, Atteeq U Rehman, Carmen C Brewer, Wasim Ahmed, Suzanne M Leal, Sheikh Riazuddin, Steven E Boyden, Thomas B Friedman
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Human mutation 40 (2) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Rabia Faridi