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Siddharth Banka
Siddharth Banka
University of Manchester and Manchester University Foundation NHS Trust
Verified email at manchester.ac.uk - Homepage
Title
Cited by
Cited by
Year
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8922017
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
4112016
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4062020
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
3982020
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3822021
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology 13 (1), 44-58, 2014
2832014
Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases
BE Oftedal, A Hellesen, MM Erichsen, E Bratland, A Vardi, J Perheentupa, ...
Immunity 42 (6), 1185-1196, 2015
2622015
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
MC Hannibal, KJ Buckingham, SB Ng, JE Ming, AE Beck, MJ McMillin, ...
American Journal of Medical Genetics Part A 155 (7), 1511-1516, 2011
2312011
Histone lysine methylases and demethylases in the landscape of human developmental disorders
V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ...
The American Journal of Human Genetics 102 (1), 175-187, 2018
2092018
Early cognitive development in children born to women with epilepsy: a prospective report.
BGA Bromley RL, Mawer G, Love J, Kelly J, Purdy L, LMNG LMNDG]
Epilepsia 51 (10), 2058-2065, 2010
2022010
Kabuki syndrome: international consensus diagnostic criteria
MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ...
Journal of medical genetics 56 (2), 89-95, 2019
1952019
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ...
European Journal of Human Genetics, 2011
1952011
Germline selection shapes human mitochondrial DNA diversity
CPF 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ ...
Science 364 (6442), 2019
1892019
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
K Tatton-Brown, S Hanks, E Ruark, A Zachariou, SDV Duarte, E Ramsay, ...
Oncotarget 2 (12), 1127, 2011
1792011
Child development following in utero exposure: levetiracetam vs sodium valproate.
BGA Shallcross R, Bromley RL, Irwin B, Bonnett LJ, LMN Group, ...
Neurology. 76 (4), 383-389., 2011
1722011
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
K Tatton‐Brown, A Murray, S Hanks, J Douglas, R Armstrong, S Banka, ...
American journal of medical genetics Part A 161 (12), 2972-2980, 2013
1572013
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study.
CSJ Mawer G, Briggs M, Baker GA, Bromley R, Coyle H, LMN Group.
Seizure 19 (2), 112-119., 2010
1562010
RAC1 missense mutations in developmental disorders with diverse phenotypes
MRF Reijnders, NM Ansor, M Kousi, WW Yue, PL Tan, K Clarkson, ...
The American Journal of Human Genetics 101 (3), 466-477, 2017
1462017
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)
S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, ...
Clinical genetics 87 (3), 252-258, 2015
1452015
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
EMMB Wright, HL Spencer, SB Daly, FDC Manson, LAH Zeef, J Urquhart, ...
The American Journal of Human Genetics 88 (6), 767-777, 2011
1322011
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