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Plos One|January 27, 2012
Genetic mapping and exome sequencing identify variants associated with five novel diseasesErik G Puffenberger, Robert N Jinks, Carrie Sougnez, et al.American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.Science Translational Medicine|February 26, 2025
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine diseaseJiaming Wang, Laura E Poskitt, Jillian Gallagher, et al.American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.Proceedings of the National Academy of Sciences of the United States of America|April 14, 2025
A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in miceBradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.Pageof 7