Neethukrishna Kausthubham

The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham et al. · Human Mutation · 2018 · 69 citations · Full text

Genetics, Molecular Biology, Pathology +20

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta et al. · Human Mutation · 2021 · 47 citations · Full text

Research Exomes, Family Members, Exome Sequencing +25

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur et al. · European Journal of Human Genetics · 2021 · 39 citations · Full text

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee et al. · The American Journal of Human Genetics · 2019 · 25 citations · Full text

Genetic Disorder, Genetics, Molecular Genetics +3

Identification of a novel homozygous variant confirms <i>ITPA</i> as a developmental and epileptic encephalopathy gene

Parneet Kaur, Neethukrishna Kausthubham, Ali Kumble et al. · American Journal of Medical Genetics Part A · 2019 · 17 citations

Brain Development, Neurological Disorder, Genetics +21