Dr Gautam Ambegaonkar - Publications

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset Oculopharyngeal muscular dystrophy. Nature Communications. April 2022 28; 13 (1): 2306 - 2309

28 Apr 2022

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet Med. 2022 March ;24(3): 681-693

06 Dec 2021

The Efficient Investigation of Infantile and Childhood Epileptic Encephalopathies in the Era of Modern Genomics . Archives of disease in Childhood – Education and Practice Edition. 2022 April; 107(2): 80-87

07 Jan 2021

Disease characteristics of MCT8 deficiency: an international, retrospective, multicenter cohort study. Lancet Diabetes Endocrinology. 2020 July; 8 (7): 594- 605

01 Jul 2020

15-minute consultation: an approach to child with chronic headaches. Archives of Disease in Childhood – Education and Practice Edition. 2018; Jan 0: 0 -1

08 Dec 2017

Clinical and Molecular characterization of KCNT1 related severe, early onset epilepsy. Neurology. 2018 Jan 2;90(1):e55-e66

01 Dec 2017

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. Neurogenetics 2017 Jan;18(1):49-55

06 Jan 2017

15-minute consultation: an approach to child with chronic headaches. Archives of Disease in Childhood – Education and Practice Edition. 2018; Jan 0: 0 -1

09 Dec 2015

Kim, H.J., Mohassel, P., Donkervoort, S. et al. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nat Commun 13, 2306 (2022).

28 Apr 2022