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Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
American Journal of Respiratory and Critical Care Medicine|February 4, 2020
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung DiseaseMargaret L Salisbury, Justin C Hewlett, Guixiao Ding, et al.
American Journal of Respiratory and Critical Care Medicine|March 11, 2014
Functional prostacyclin synthase promoter polymorphisms. Impact in pulmonary arterial hypertensionRobert S Stearman, Amber R Cornelius, Xiao Lu, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone SupplementationYutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
American Journal of Respiratory and Critical Care Medicine|December 13, 2005
Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertensionElisabeth D Willers, John H Newman, James E Loyd, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Circulation|October 22, 2015
Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular MetabolismXinping Chen, Megha Talati, Joshua P Fessel, et al.
Molecular Genetics & Genomic Medicine|April 18, 2019
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cellsJohn H Newman, Aaron Shaver, Jonathan H Sheehan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila modelsKristy L Jay, Nikhita Gogate, Kim Ezell, et al.
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