A
Ankur Singh
Researcher at Institute of Medical Sciences, Banaras Hindu University
Publications - 62
Citations - 725
Ankur Singh is an academic researcher from Institute of Medical Sciences, Banaras Hindu University. The author has contributed to research in topics: Medicine & Exome. The author has an hindex of 12, co-authored 54 publications receiving 555 citations. Previous affiliations of Ankur Singh include Madigan Army Medical Center & All India Institute of Medical Sciences.
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Journal ArticleDOI
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
Gijs W. E. Santen,Emmelien Aten,Anneke T. Vulto-van Silfhout,Caroline Pottinger,Bregje W.M. van Bon,Ivonne J H M van Minderhout,Ronelle Snowdowne,Christian A.C. Van der Lans,Merel W. Boogaard,Margot M L Linssen,Linda Vijfhuizen,Michiel J R van der Wielen,M. J Ellen Vollebregt,Martijn H. Breuning,Marjolein Kriek,Arie van Haeringen,Johan T. den Dunnen,Alexander Hoischen,Jill Clayton-Smith,Bert B.A. de Vries,Raoul C.M. Hennekam,Martine J. van Belzen,Mariam Almureikhi,Anwar Baban,Mafalda Barbosa,Tawfeg Ben-Omran,Katherine Berry,Stefania Bigoni,Odile Boute,Louise Brueton,Ineke van der Burgt,Natalie Canham,Kate Chandler,Krystyna H. Chrzanowska,Amanda L. Collins,Teresa De Toni,John Dean,Nicolette S. den Hollander,Leigh Anne Flore,Alan Fryer,Alice Gardham,John M. Graham,Victoria Harrison,Denise Horn,Marjolijn C.J. Jongmans,Dragana Josifova,Sarina G. Kant,Seema Kapoor,Helen Kingston,Usha Kini,Tjitske Kleefstra,Krajewska-Walasek Malgorzata Krajewska-Walasek,Nancy Kramer,Saskia M. Maas,Patrícia Maciel,M. S Mancini Grazia,Isabelle Maystadt,Shane McKee,Jeff M. Milunsky,Sheela Nampoothiri,Ruth Newbury-Ecob,Sarah M. Nikkel,Michael J. Parker,Luis A. Pérez-Jurado,Stephen P. Robertson,Caroline Rooryck,Debbie Shears,Margherita Silengo,Ankur Singh,Robert Smigiel,Gabriela Soares,Miranda Splitt,Helen Stewart,Elizabeth Sweeney,May Tassabehji,I. Karen Temple,Beyhan Tüysüz,Albertien M. van Eerde,Catherine Vincent-Delorme,Louise C. Wilson,Gozde Yesil +80 more
TL;DR: The emerging phenotype–genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay, and the variability in phenotype seems most marked in ARIDs1A and ARID1B patients.
Journal ArticleDOI
A Movie Recommender System: MOVREC
TL;DR: A movie recommendation system based on collaborative filtering approach that makes use of the information provided by users, analyzes them and then recommends the movies that is best suited to the user at that time.
Journal ArticleDOI
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Elizabeth J. Leslie,James O'Sullivan,Michael L. Cunningham,Ankur Singh,Steven Goudy,Faroug Ababneh,Lamia Alsubaie,Gaik Siew Ch'ng,Ingrid M B H van der Laar,A. Jeannette M. Hoogeboom,Martine Dunnwald,Seema Kapoor,Pawina Jiramongkolchai,Jennifer Standley,J. Robert Manak,Jeffrey C. Murray,Michael J. Dixon +16 more
TL;DR: The first cases of an autosomal recessive popliteal pterygium syndrome caused by homozygous mutation of IRF6 and the first case of uniparental disomy of chromosome 21 leading to a recessive disorder are reported.
Journal ArticleDOI
Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula,Saud Alsahli,Lamees Alhabeeb,Nisha Patel,Fatema Alzahrani,Hanan E. Shamseldin,Shams Anazi,Nour Ewida,Hessa S. Alsaif,Jawahir Y. Mohamed,Anas M. Alazami,Niema Ibrahim,Firdous Abdulwahab,Mais Hashem,Mohamed Abouelhoda,Dorota Monies,Nada Al Tassan,Muneera J. Alshammari,Afaf Alsagheir,Mohammed Zain Seidahmed,Samira Sogati,Mona Aglan,Muddathir H. Hamad,Mustafa A. Salih,Ahlam A. Hamed,Nadia Al-Hashmi,Amira Nabil,Fatima Alfadli,Ghada M H Abdel-Salam,Hisham Alkuraya,Winnie Ong Peitee,W T Keng,Abdullah Qasem,Aziza M. Mushiba,Maha S. Zaki,Mahmoud R. Fassad,Majid Alfadhel,Saji Alexander,Yasser Sabr,Samia A. Temtamy,Alka V. Ekbote,Samira Ismail,Gamal Ahmed Hosny,Ghada A. Otaify,Khalda Amr,Saeed Al Tala,Arif O. Khan,Tamer Rizk,Aida Alaqeel,Abdulmonem Alsiddiky,Ankur Singh,Seema Kapoor,Amal Alhashem,Eissa Faqeih,Ranad Shaheen,Fowzan S. Alkuraya +55 more
TL;DR: A strong founder effect for many genes in the authors' cohort allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in their population (7.16E-04), which is much higher than the global average.
Journal ArticleDOI
Identification of a Novel MKS Locus Defined By TMEM107 Mutation
Ranad Shaheen,Agaadir Almoisheer,Eissa Faqeih,Zainab A. Babay,Dorota Monies,Nada Al Tassan,Mohamed Abouelhoda,Wesam Kurdi,Elham Al Mardawi,Mohamed Ibrahim Khalil,Mohammed Zain Seidahmed,Maha Alnemer,Nada Alsahan,Samira Sogaty,Amal Alhashem,Ankur Singh,Manisha Goyal,Seema Kapoor,Rana Alomar,Niema Ibrahim,Fowzan S. Alkuraya,Fowzan S. Alkuraya +21 more
TL;DR: It is shown that known MKS loci account for the overwhelming majority of MKS cases but additional loci exist including MKS13 caused by TMEM107 mutation, which leads to aberrant splicing and nonsense-mediated decay.