SG Mehta

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

GDJ Watts, Dana Thomasová, SK Ramdeen et al. · Clinical Genetics · 2007 · 134 citations

Genotype–phenotype studies of <scp>VCP</scp>‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

SG Mehta, Manaswitha Khare, R. Ramani et al. · Clinical Genetics · 2012 · 110 citations

Genetics, Pathology, Disease Gene Identification +16

7q11.23 Microduplication: a recognizable phenotype

Abhijit Dixit, Shane McKee, Sahar Mansour et al. · Clinical Genetics · 2012 · 66 citations

Recognizable Phenotype, Genetics, Reciprocal Microduplication +17

<i><scp>MLL2</scp></i> mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

Siddharth Banka, Emma Howard, Sancha Bunstone et al. · Clinical Genetics · 2012 · 48 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +15