Rabia Faridi
National Institutes of Health
20 Papers
9 Citations
Rabia Faridi is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Biology & Exome sequencing. The author has an hindex of 7, co-authored 12 publications. Previous affiliations of Rabia Faridi include University of the Punjab.
Chat about Author
Papers
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Elodie Richard,Santos-Cortez Rlp,Rabia Faridi,Atteeq U. Rehman,Kwanghyuk Lee,Mohsin Shahzad,Mohsin Shahzad,Anushree Acharya,Asma A. Khan,Ayesha Imtiaz,Imen Chakchouk,Takla C,Izoduwa Abbe,Rafeeq M,Khurram Liaqat,Khurram Liaqat,Taimur Chaudhry,Michael J. Bamshad,Deborah A. Nickerson,Isabelle Schrauwen,Shahid Niaz Khan,Robert J. Morell,Saba Zafar,Muhammad Ansar,Zubair M. Ahmed,Wasim Ahmad,Saima Riazuddin,Thomas B. Friedman,Suzanne M. Leal +28 more
TL;DR: This study utilized genome‐wide genotyping, Sanger and exome sequencing to identify 163 DNA variants in 41 previously reported HL genes segregating in 321 Pakistani families, providing a profile of the genetic etiology of HL in Pakistani families.
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Rabia Faridi,Atteeq U. Rehman,Robert J. Morell,Penelope E. Friedman,Leigh A M Demain,Sana Zahra,Asma A. Khan,Dalia Tohlob,Muhammad Zaman Khan Assir,Glenda M. Beaman,Shaheen N. Khan,William G. Newman,Sheikh Riazuddin,Thomas B. Friedman +13 more
TL;DR: The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals and whole exome sequencing was completed on four affected members of a large family, and variants and co‐segregation was confirmed by Sanger sequencing.
Functions of plant's bzip transcription factors
Zulfiqar Ali,Syeda Samara Sarwat,Ihsan Karim,Rabia Faridi,Muhammad Jafar Jaskani,Asif Ali Khan +5 more
TL;DR: The classification of bZIP is according to the binding specificities of b ZIPs as well as their role in transcription.
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
Rabia Faridi,Alessandro Rea,Cristina Fenollar-Ferrer,Raymond T. O'Keefe,Shoujun Gu,Zunaira Munir,Asma A. Khan,Sheikh Riazuddin,Michael Hoa,Sadaf Naz,William G. Newman,Thomas B. Friedman +11 more
TL;DR: In this article, the authors reviewed the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS 2, RMND1, TWNK) associated with PerRAult syndrome.
34
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,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 +14 more
TL;DR: This study engineered mouse models of DFNB86 and DFNA65 nonsyndromic deafness and syndromic forms of deafness that have the same pathogenic variants that were reported for human TBC1D24, and unexpectedly, no auditory dysfunction was detected in Tbc1d24 mutant mice, although homozygosity for some of the variants caused seizures or lethality.
21