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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Nat Metab. 2021 Mar;3(3):366-377. doi: 10.1038/s42255-021-00361-3. Epub 2021 Mar 22.
Nat Metab. 2021.
PMID: 33758422
Free PMC article.
ATAV: a comprehensive platform for population-scale genomic analyses.
Ren Z, Povysil G, Hostyk JA, Cui H, Bhardwaj N, Goldstein DB.
Ren Z, et al. Among authors: hostyk ja.
BMC Bioinformatics. 2021 Mar 23;22(1):149. doi: 10.1186/s12859-021-04071-1.
BMC Bioinformatics. 2021.
PMID: 33757430
Free PMC article.
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Rare-variant collapsing analyses for complex traits: guidelines and applications.
Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen AS, Goldstein DB.
Povysil G, et al.
Nat Rev Genet. 2019 Dec;20(12):747-759. doi: 10.1038/s41576-019-0177-4. Epub 2019 Oct 11.
Nat Rev Genet. 2019.
PMID: 31605095
Review.
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Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A, Hostyk J, Baugh EH, Buchovecky CM, Aggarwal VS, Recker RR, Lappe JM, Dempster DW, Zhou H, Kamanda-Kosseh M, Bucovsky M, Stubby J, Goldstein DB, Shane E.
Cohen A, et al.
Bone. 2022 Jan;154:116253. doi: 10.1016/j.bone.2021.116253. Epub 2021 Nov 4.
Bone. 2022.
PMID: 34743040
Free PMC article.
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A framework for the investigation of rare genetic disorders in neuropsychiatry.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE.
Sanders SJ, et al.
Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23.
Nat Med. 2019.
PMID: 31548702
Free PMC article.
Review.
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Causal Genetic Variants in Stillbirth.
Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB.
Stanley KE, et al.
N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12.
N Engl J Med. 2020.
PMID: 32786180
Free PMC article.
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Genomic analysis of "microphenotypes" in epilepsy.
Stanley K, Hostyk J, Tran L, Amengual-Gual M, Dugan P, Clark J, Choi H, Tchapyjnikov D, Perucca P, Fernandes C, Andrade D, Devinsky O; pSERG Consortium, the EPIGEN Consortium; Cavalleri GL, Depondt C, Sen A, O'Brien T, Heinzen E, Loddenkemper T, Goldstein DB, Mikati MA, Delanty N.
Stanley K, et al.
Am J Med Genet A. 2022 Jan;188(1):138-146. doi: 10.1002/ajmg.a.62505. Epub 2021 Sep 27.
Am J Med Genet A. 2022.
PMID: 34569149
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