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American Journal of Medical Genetics. Part A|October 6, 2021
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathyAlexander J M Blakes, Joel English, Siddharth Banka, et al.Endocrinology, Diabetes & Metabolism Case Reports|August 31, 2018
Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner SyndromeGeorge Stoyle, Siddharth Banka, Claire Langley, et al.Molecular Genetics and Metabolism|January 10, 2013
G6PC3 mutations cause non-syndromic severe congenital neutropeniaSiddharth Banka, Robert Wynn, Helen Byers, et al.Journal of Medical Genetics|September 25, 2019
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic statusGeorge J Burghel, Unzela Khan, Wei-Yu Lin, et al.Journal of Clinical Epidemiology|July 9, 2023
Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseasesAndrada Ciucă, Siddharth Banka, William G Newman, et al.American 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.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.Amino Acids|July 17, 2021
Post-translational formation of hypusine in eIF5A: implications in human neurodevelopmentMyung Hee Park, Rajesh Kumar Kar, Siddharth Banka, et al.Nature Communications|February 25, 2026
Regional nonsense constraint offers biological and clinical insights into genetic diseaseAlexander J M Blakes, Nicola Whiffin, Colin A Johnson, et al.American Journal of Medical Genetics. Part A|October 22, 2020
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorderRory J Tinker, George J Burghel, Shruti Garg, et al.Pageof 17