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Orphanet 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 NewmanWorld Journal of Pediatrics : WJP|November 23, 2011
Trisomy 18 mosaicism: report of two casesSiddharth Banka, Kay Metcalfe, Jill Clayton-SmithChild'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 16, 2006
First report of occurrence of choroid plexus papilloma and medulloblastoma in the same patientSiddharth Banka, Richard Walsh, Marie-Anne BrundlerClinical Dysmorphology|June 8, 2015
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmiaTerri P McVeigh, Siddharth Banka, William ReardonAmerican Journal of Medical Genetics. Part A|January 10, 2019
A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsyHarry Fraser, Amy Goldman, Ronnie Wright, et al.Journal of Pediatric Hematology/Oncology|April 21, 2010
Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemiaSiddharth Banka, Ruth Roberts, Dianne Plews, et al.Autoimmunity Reviews|February 8, 2011
Pernicious anemia - genetic insightsSiddharth Banka, Kate Ryan, Wendy Thomson, et al.Journal of Human Genetics|November 22, 2018
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general populationVíctor Faundes, Geraldine Malone, William G Newman, et al.American Journal of Medical Genetics. Part A|August 28, 2010
Mutations in the G6PC3 gene cause Dursun syndromeSiddharth Banka, William G Newman, R Koksal Ozgül, et al.JIMD Reports|September 10, 2019
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutationJose I R Ciancio, Mark Furman, Siddharth Banka, et al.Pageof 17