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American Journal of Medical Genetics. Part A|June 1, 2021
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotypeAdam Jackson, Siddharth Banka, Helen Stewart, et al.World Journal of Pediatrics : WJP|November 23, 2011
Trisomy 18 mosaicism: report of two casesSiddharth Banka, Kay Metcalfe, Jill Clayton-SmithAmerican Journal of Medical Genetics. Part A|May 17, 2011
A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletionSiddharth Banka, Gregory J Fitzgibbon, Lorraine Gaunt, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|September 27, 2015
In utero exposure to valproate increases the risk of isolated cleft palateAdam Jackson, Rebecca Bromley, James Morrow, et al.American Journal of Medical Genetics. Part A|March 21, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBPSiddharth Banka, Rebecca Sayer, Catherine Breen, et al.Pediatric Rheumatology Online Journal|June 18, 2022
Monogenic disorders as mimics of juvenile idiopathic arthritisLaura Furness, Phil Riley, Neville Wright, et al.Journal of Medical Case Reports|November 21, 2008
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case reportGregory J Fitzgibbon, Jill Clayton-Smith, Siddharth Banka, et al.HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.Clinical Dysmorphology|September 15, 2004
Acromegaloid facial appearance syndrome: a further case reportUsha Kini, Jill Clayton-SmithOrphanet Journal of Rare Diseases|June 14, 2013
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutationsSiddharth Banka, William G NewmanPageof 54