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Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.
Shibao CA, Joos K, Phillips JA 3rd, Cogan J, Newman JH, Hamid R, Meiler J, Capra J, Sheehan J, Vetrini F, Yang Y, Black B, Diedrich A, Roberston D, Biaggioni I. Shibao CA, et al. Among authors: newman jh. Neurology. 2021 Jul 13;97(2):e145-e155. doi: 10.1212/WNL.0000000000012143. Epub 2021 May 4. Neurology. 2021. PMID: 33947782 Free PMC article. Clinical Trial.
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants.
Mukherjee S, Cassini TA, Hu N, Yang T, Li B, Shen W, Moth CW, Rinker DC, Sheehan JH, Cogan JD; Undiagnosed Diseases Network; Newman JH, Hamid R, Macdonald RL, Roden DM, Meiler J, Kuenze G, Phillips JA, Capra JA. Mukherjee S, et al. Among authors: newman jh. HGG Adv. 2022 Jul 19;3(4):100131. doi: 10.1016/j.xhgg.2022.100131. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 36035247 Free PMC article.
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. Among authors: newman jh. 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.
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. Among authors: newman jh. 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.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
400 results