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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. Among authors: hostyk j. 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.
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K, Gantner ML, Hostyk JA, Nagasaki T, Giles S, Fallon R, Harkins-Perry S, Baldini M, Lim EW, Scheppke L, Dorrell MI, Cai C, Baugh EH, Wolock CJ, Wallace M, Berlow RB, Goldstein DB, Metallo CM, Friedlander M, Allikmets R. Eade K, et al. Among authors: hostyk ja. 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.
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. Among authors: hostyk j. 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.
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. Among authors: hostyk j. 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
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. Among authors: hostyk j. Bone. 2022 Jan;154:116253. doi: 10.1016/j.bone.2021.116253. Epub 2021 Nov 4. Bone. 2022. PMID: 34743040 Free PMC article.
Risk Variants in the Exomes of Children With Critical Illness.
Motelow JE, Lippa NC, Hostyk J, Feldman E, Nelligan M, Ren Z, Alkelai A, Milner JD, Gharavi AG, Tang Y, Goldstein DB, Kernie SG. Motelow JE, et al. Among authors: hostyk j. JAMA Netw Open. 2022 Oct 3;5(10):e2239122. doi: 10.1001/jamanetworkopen.2022.39122. JAMA Netw Open. 2022. PMID: 36306130 Free PMC article.