S
Siddharth Banka
Researcher at University of Manchester
Publications - 143
Citations - 3911
Siddharth Banka is an academic researcher from University of Manchester. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 29, co-authored 104 publications receiving 2740 citations. Previous affiliations of Siddharth Banka include Manchester Royal Eye Hospital & University of Saint Mary.
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Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Bergithe E. Oftedal,Alexander Hellesen,Alexander Hellesen,Martina M. Erichsen,Eirik Bratland,Ayelet Vardi,Jaakko Perheentupa,E. Helen Kemp,Torunn Fiskerstrand,Torunn Fiskerstrand,Marte K. Viken,Anthony P. Weetman,Sarel J. Fleishman,Siddharth Banka,Siddharth Banka,William G. Newman,William G. Newman,W.A.C. Sewell,Leila S. Sozaeva,Tetyana Zayats,Kristoffer Haugarvoll,Elizaveta Orlova,Jan Haavik,Stefan Johansson,Stefan Johansson,Per M. Knappskog,Per M. Knappskog,Kristian Løvås,Kristian Løvås,Anette S. B. Wolff,Jakub Abramson,Eystein S. Husebye,Eystein S. Husebye +32 more
TL;DR: It is shown that disease-causing mutations in the AIRE locus are more common than previously appreciated and cause more variable autoimmune phenotypes and that the PHD1 dominant mutants were found with relatively high frequency in mixed populations.
Journal ArticleDOI
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
Mark C. Hannibal,Kati J. Buckingham,Sarah B. Ng,Jeffrey E. Ming,Anita E. Beck,Anita E. Beck,Margaret J. Mcmillin,Heidi I. S. Gildersleeve,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Heather C Mefford,Heather C Mefford,Joseph Cook,Koh-ichiro Yoshiura,Tadashi Matsumoto,Naomichi Matsumoto,Noriko Miyake,Hidefumi Tonoki,Kenji Naritomi,Tadashi Kaname,Toshiro Nagai,Hirofumi Ohashi,Kenji Kurosawa,Jia Woei Hou,Tohru Ohta,Deshung Liang,Akira Sudo,Colleen A. Morris,Siddharth Banka,Graeme C.M. Black,Jill Clayton-Smith,Deborah A. Nickerson,Elaine H. Zackai,Tamim H. Shaikh,Dian Donnai,Norio Niikawa,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +39 more
TL;DR: In this paper, the authors reported on the screening of 110 families with Kabuki syndrome and found 81/110 (74%) mutations in the Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states.
Journal ArticleDOI
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Víctor Faundes,Víctor Faundes,William G. Newman,Laura Bernardini,Natalie Canham,Jill Clayton-Smith,Bruno Dallapiccola,Sally J. Davies,Michelle Demos,Amy Goldman,Harinder Gill,Rachel Horton,Bronwyn Kerr,Dhavendra Kumar,Anna Lehman,Shane McKee,Jenny Morton,Michael Parker,Julia Rankin,Lisa Robertson,I. Karen Temple,Siddharth Banka +21 more
TL;DR: The results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders.
Journal ArticleDOI
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
Siddharth Banka,Ratna Veeramachaneni,William Reardon,Emma Howard,Sancha Bunstone,Nicola Ragge,Michael Parker,Yanick J. Crow,Bronwyn Kerr,Helen Kingston,Kay Metcalfe,Kate Chandler,Alex Magee,Fiona Stewart,Vivienne McConnell,Deirdre E. Donnelly,Siren Berland,Gunnar Houge,Jenny Morton,Christine Oley,Nicole Revencu,Soo Mi Park,Sally J. Davies,Andrew E. Fry,Sally Ann Lynch,Harinder Gill,Susann Schweiger,Wayne W.K. Lam,John Tolmie,Shehla Mohammed,Emma Hobson,Audrey Smith,Moira Blyth,Christopher P. Bennett,Pradeep Vasudevan,Sixto García-Miñaur,Alex Henderson,Judith A. Goodship,Michael Wright,Richard Fisher,Richard Gibbons,Susan Price,Deepthi De Silva,I. Karen Temple,Amanda L. Collins,Katherine Lachlan,Frances Elmslie,Meriel McEntagart,Bruce Castle,Jill Clayton-Smith,Graeme C.M. Black,Dian Donnai +51 more
TL;DR: The largest yet reported cohort of 116 patients with Kabuki syndrome is presented, and the analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested.