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Page 1
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Bastarache L, et al. Science. 2018 Mar 16;359(6381):1233-1239. doi: 10.1126/science.aal4043. Science. 2018. PMID: 29590070 Free PMC article.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN. Pomerantz DJ, et al. Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Am J Med Genet A. 2018. PMID: 29388319 Free PMC article. Review.
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Cassini TA, et al. Am J Med Genet A. 2018 May;176(5):1175-1179. doi: 10.1002/ajmg.a.38493. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341437 Free PMC article.
Low-grade albuminuria in pulmonary arterial hypertension.
Nickel NP, de Jesus Perez VA, Zamanian RT, Fessel JP, Cogan JD, Hamid R, West JD, de Caestecker MP, Yang H, Austin ED. Nickel NP, et al. Pulm Circ. 2019 Apr-Jun;9(2):2045894018824564. doi: 10.1177/2045894018824564. Pulm Circ. 2019. PMID: 30632900 Free PMC article.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Burdick KJ, et al. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19. Am J Med Genet A. 2020. PMID: 32190976 Free PMC article.
16 results