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The New England Journal of Medicine|December 1, 2006
CD4+ count-guided interruption of antiretroviral treatment, W M El-Sadr, J D Lundgren, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.American Journal of Respiratory and Critical Care Medicine|February 8, 2012
A critical role for muscle ring finger-1 in acute lung injury-associated skeletal muscle wastingD Clark Files, Franco R D'Alessio, Laura F Johnston, et al.EMBO Molecular Medicine|November 20, 2012
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophyEva Andres-Mateos, Heinrich Brinkmeier, Tyesha N Burks, et al.JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.Scientific Reports|January 20, 2024
High dimensional predictions of suicide risk in 4.2 million US Veterans using ensemble transfer learningSayera Dhaubhadel, Kumkum Ganguly, Ruy M Ribeiro, et al.American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.Pageof 38