Kerith‐Rae Dias

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Gosia Trynka, Karen A. Hunt, Nicholas Bockett et al. · Nature Genetics · 2011 · 864 citations

Life Sciences, Genetics, Molecular Genetics +14

Identification of Type 1 Diabetes–Associated DNA Methylation Variable Positions That Precede Disease Diagnosis

Vardhman K. Rakyan, Huriya Beyan, Thomas A. Down et al. · PLoS Genetics · 2011 · 347 citations · Full text

Life Sciences, Endocrinology, Genetics +15

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell et al. · Cell · 2018 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha et al. · Molecular Genetics & Genomic Medicine · 2018 · 113 citations · Full text

Medicine, Genetics, Neurology +13