Robert N. Jinks

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez et al. · PLoS ONE · 2012 · 307 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger et al. · The American Journal of Human Genetics · 2015 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Action of Oxytocin and Related Peptides on Epididymal Adipose Tissue of the Rat

I. Arthur Mirsky, Gladys Perisutti, Robert N. Jinks et al. · Endocrinology · 1962 · 137 citations

Life Sciences, Endocrinology, Physiology +13

A homozygous missense mutation in<i>HERC2</i>associated with global developmental delay and autism spectrum disorder

Erik G. Puffenberger, Robert N. Jinks, Heng Wang et al. · Human Mutation · 2012 · 104 citations

Life Sciences, Genetics, Molecular Genetics +17

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>

Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple et al. · Brain · 2015 · 67 citations · Full text

Medicine, Neurology, Pediatrics +17