Kalpana Gowrishankar

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri et al. · BMC Medical Genetics · 2020 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I‐Ping Chen, Salomé de Almeida et al. · PLoS ONE · 2013 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 68 citations

Medicine, Molecular Medicine, Bone Metabolism +16

<i>GALNS</i> mutations in Indian patients with mucopolysaccharidosis IVA

Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah et al. · American Journal of Medical Genetics Part A · 2014 · 38 citations

Life Sciences, Genetics, Molecular Genetics +12