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International Journal of Dermatology|January 7, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN AuthorsAthira Sivadas, Katelyn Moore, Kimberly Ezell, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptomsThomas A Cassini, Laura Duncan, Lynette C Rives, et al.
Endocrinology|January 23, 2003
Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic miceLindsay McGuinness, Charalambos Magoulas, Abdul K Sesay, et al.
Pulmonary Circulation|April 25, 2012
High-altitude pulmonary hypertension in cattle (brisket disease): Candidate genes and gene expression profiling of peripheral blood mononuclear cellsJohn H Newman, Timothy N Holt, Lora K Hedges, et al.
American Journal of Medical Genetics. Part A|August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiencyYutaka Furuta, Erica T Nelson, Serena M Neumann, et al.
Human Genetics|April 30, 2003
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD IIRobin C C Ryther, Lindsay M McGuinness, John A Phillips, et al.
BMC Bioinformatics|January 25, 2018
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial PneumoniaR Michael Sivley, Jonathan H Sheehan, Jonathan A Kropski, et al.
American Journal of Human Genetics|April 17, 2025
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decadesLisa Bastarache, Rory J Tinker, Bryce A Schuler, et al.
Clinical and Translational Science|May 7, 2010
beta(2)-adrenergic receptor promoter haplotype influences spirometric response during an acute asthma exacerbationPaul E Moore, Scott M Williams, Tebeb Gebretsadik, et al.
American Journal of Ophthalmology|August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic DilemmasRory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
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