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 · 303 citations · Full text

Genetics, Five Novel Diseases, Genetic Epidemiology +19

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 · 164 citations · Full text

Mendelian Disorder, Genetic Disorder, Natural Sciences +7

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

Neuropeptides, Insulin Signaling, Gastrointestinal Peptide Hormone +19

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 · 103 citations

Cognitive Delay, Separate Sibships, Genetics +19

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 · 65 citations · Full text