Mythily Ganapathi
0000-0003-2834-0843
9 papers found
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
A novel biallelic loss-of-function variant inDAND5causes heterotaxy syndrome
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission
A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study
De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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