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Pediatric Endocrinology Reviews : PER|June 15, 2007
New methods in genetic diagnosis including prenatal diagnosisJoy D Cogan, John A PhillipsClinical and Translational Science|June 29, 2011
Pharmacologic correction of dominant-negative GH1 deficiency causing mutationsJustin S Poling, John A Phillips, Joy D Cogan, et al.Nucleic Acids Research|September 25, 2018
HACER: an atlas of human active enhancers to interpret regulatory variantsJing Wang, Xizhen Dai, Lynne D Berry, et al.BMC Medical Genetics|June 18, 2009
Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertensionJennifer A Johnson, Cindy L Vnencak-Jones, Joy D Cogan, et al.The Journal of Clinical Investigation|April 1, 2022
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseasesBryce A Schuler, Erica T Nelson, Mary Koziura, et al.American Journal of Human Genetics|September 16, 2021
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases NetworkSouhrid Mukherjee, Joy D Cogan, John H Newman, et al.Human Mutation|February 12, 2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid, Joy D Cogan, Lora K Hedges, et al.Orphanet Journal of Rare Diseases|November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseasesYutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.American Journal of Respiratory and Critical Care Medicine|October 13, 2007
Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertensionBarbara O Meyrick, David B Friedman, D Dean Billheimer, et al.The Journal of Clinical Endocrinology and Metabolism|October 20, 2009
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type IIRizwan Hamid, John A Phillips, Cindy Holladay, et al.Pageof 6