F
Falak Sher Khan
Researcher at Quaid-i-Azam University
Publications - 27
Citations - 677
Falak Sher Khan is an academic researcher from Quaid-i-Azam University. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 9, co-authored 19 publications receiving 437 citations. Previous affiliations of Falak Sher Khan include Pakistan Medical Research Council.
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Journal ArticleDOI
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Muzammil Ahmad Khan,Muzammil Ahmad Khan,Muhammad Rafiq,Abdul Noor,Shobbir Hussain,Joana V. Flores,Verena Rupp,Akshita K. Vincent,Roland Malli,Ghazanfar Ali,Ghazanfar Ali,Falak Sher Khan,Gisele E. Ishak,Dan Doherty,Rosanna Weksberg,Muhammad Ayub,Muhammad Ayub,Christian Windpassinger,Christian Windpassinger,Shahnaz Ibrahim,Michaela Frye,Muhammad Ansar,John B. Vincent,John B. Vincent +23 more
TL;DR: The ID combined with a unique profile of comorbid features presented here makes this an important genetic discovery, and the involvement of NSUN2 highlights the role of RNA methyltransferase in human neurocognitive development.
Journal ArticleDOI
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Ricardo Harripaul,Ricardo Harripaul,Nasim Vasli,Anna Mikhailov,Muhammad Rafiq,Muhammad Rafiq,Kirti Mittal,Christian Windpassinger,Taimoor I. Sheikh,Taimoor I. Sheikh,Abdul Noor,Abdul Noor,Huda Mahmood,Samantha Downey,Samantha Downey,Maneesha Johnson,Maneesha Johnson,Kayla Vleuten,Kayla Vleuten,Lauren Bell,Lauren Bell,Muhammad Ilyas,Falak Sher Khan,Valeed Khan,Mohammad Moradi,Muhammad Ayaz,Farooq Naeem,Abolfazl Heidari,Iltaf Ahmed,Shirin Ghadami,Zia Agha,Sirous Zeinali,Raheel Qamar,Raheel Qamar,Hossein Mozhdehipanah,Peter John,Asif Mir,Muhammad Ansar,Leon French,Muhammad Ayub,John B. Vincent,John B. Vincent +41 more
TL;DR: The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common.
Journal ArticleDOI
Mutation of ATF6 causes autosomal recessive achromatopsia
Muhammad Ansar,Regie Lyn P. Santos-Cortez,Muhammad Arif Nadeem Saqib,Fareeha Zulfiqar,Kwanghyuk Lee,Naeem Mahmood Ashraf,Ehsan Ullah,Xin Wang,Sundus Sajid,Falak Sher Khan,Muhammad Amin-ud-din,Joshua D. Smith,Jay Shendure,Michael J. Bamshad,Deborah A. Nickerson,Abdul Hameed,Saima Riazuddin,Zubair M. Ahmed,Wasim Ahmad,Suzanne M. Leal +19 more
TL;DR: The results imply that response to ER stress as mediated by the ATF6 pathway is essential for color vision in humans.
Posted ContentDOI
Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families
Ricardo Harripaul,Nasim Vasli,Anna Mikhailov,Muhammad Rafiq,Kirti Mittal,Christian Windpassinger,Taimoor I. Sheikh,Abdul Noor,Huda Mahmood,Samantha Downey,Maneesha Johnson,Kayla Vleuten,Lauren Bell,Muhammad Ilyas,Falak Sher Khan,Valeed Khan,Mohammad Moradi,Muhammad Ayaz,Farooq Naeem,Abolfazl Heidari,Iltaf Ahmed,Shirin Ghadami,Zia Agha,Sirous Zeinali,Raheel Qamar,Hossein Mozhdehipanah,Peter John,Asif Mir,Muhammad Ansar,Leon French,Muhammad Ayub,John B. Vincent +31 more
TL;DR: The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common.
Journal ArticleDOI
A novel framework for potato leaf disease detection using an efficient deep learning model
Rabbia Mahum,Haris Munir,Zaib-un-Nisa Mughal,Muhammad Awais,Falak Sher Khan,Muhammad Nadeem Saqlain,Saipunidzam Mahamad,Iskander Tlili +7 more
TL;DR: In this paper , the authors proposed a technique based on an improved deep learning algorithm that uses the potato leaf visual features to classify them into five classes i.e., potato late blight (PLB), potato early blight, potato leaf roll (PLR), potato verticillium_wilt (PVw), and potato healthy (PH) class.