Gaurav V. Harlalka

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza et al. · Brain · 2013 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hypomorphic PCNA mutation underlies a human DNA repair disorder

Emma L. Baple, Helen Chambers, Harold E. Cross et al. · Journal of Clinical Investigation · 2014 · 98 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza et al. · The American Journal of Human Genetics · 2010 · 87 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +14

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi et al. · Brain · 2016 · 78 citations · Full text

Life Sciences, Genetics, Neurology +16

Mutation of HERC2 causes developmental delay with Angelman-like features

Gaurav V. Harlalka, Emma L. Baple, Harold E. Cross et al. · Journal of Medical Genetics · 2012 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17