Gandham SriLakshmi Bhavani

The promise of discovering population-specific disease-associated genes in South Asia

Nathan Nakatsuka, Priya Moorjani, Niraj Rai et al. · Nature Genetics · 2017 · 192 citations · Full text

Disease Susceptibility, Genetic Determinant, Medicine +12

A homozygous nonsense variant in <i><scp>IFT52</scp></i> is associated with a human skeletal ciliopathy

Katta M. Girisha, Anju Shukla, Daniel Trujillano et al. · Clinical Genetics · 2016 · 73 citations

Mendelian Disorder, Short Stature, Genetic Disorder +14

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher et al. · Journal of Medical Genetics · 2021 · 72 citations · Full text

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

Analysis of the <i>WISP3</i> gene in Indian families with progressive pseudorheumatoid dysplasia

Ashwin Dalal, Gandham SriLakshmi Bhavani, Padma Priya Togarrati et al. · American Journal of Medical Genetics Part A · 2012 · 67 citations