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1,103 results

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. Among authors: perry h. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: perry h. NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5. NPJ Genom Med. 2021. PMID: 34556655 Free PMC article.
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: perry h. NPJ Genom Med. 2021 Oct 12;6(1):88. doi: 10.1038/s41525-021-00251-3. NPJ Genom Med. 2021. PMID: 34642307 Free PMC article. No abstract available.
Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD. Ko J, et al. Among authors: perry h. Cleft Palate Craniofac J. 2020 Jan;57(1):132-136. doi: 10.1177/1055665619858257. Epub 2019 Jun 27. Cleft Palate Craniofac J. 2020. PMID: 31248274
DLX4 is associated with orofacial clefting and abnormal jaw development.
Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM. Wu D, et al. Among authors: perry h. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7. Hum Mol Genet. 2015. PMID: 25954033 Free PMC article.
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Slavotinek A, et al. Among authors: perry h. Am J Med Genet A. 2009 Aug;149A(8):1814-7. doi: 10.1002/ajmg.a.32947. Am J Med Genet A. 2009. PMID: 19610084 Free PMC article. No abstract available.
Outcomes for Patients with Obesity Undergoing Adrenalectomy for Pheochromocytoma: An International Multicenter Analysis.
Verhoeff K, Parente A, Wang Y, Wang N, Wang Z, Śledziński M, Hellmann A, Raffaelli M, Pennestrì F, Sywak M, Papachristos AJ, Palazzo FF, Sung TY, Kim BC, Lee YM, Eatock F, Anderson H, Iacobone M, Daukša A, Makay O, Turk Y, Atalay HB, van Dijkum EJMN, Engelsman AF, Holscher I, Materazzi G, Rossi L, Becucci C, Shore SL, Fung C, Waghorn A, Mihai R, Balasubramanian SP, Pannu A, Tatarano S, Velázquez-Fernández D, Miller JA, Serrao-Brown H, Chen Y, Demarchi MS, Djafarrian R, Doran H, Wang K, Stechman MJ, Perry H, Hubbard J, Lamas C, Mercer P, MacPherson J, Lumbiganon S, Calatayud M, Hanzu FA, Vidal O, Araujo-Castro M, Ojeda CM, Papavramidis T, de Vera Gómez PR, Aldrees A, Altwjry T, Valdés N, Álvarez-Escola C, García Sanz I, Blanco Carrera C, Manjón-Miguélez L, De Miguel Novoa P, Recasens M, García Centeno R, Robles Lázaro C, Van Den Heede K, Van Slycke S, Michalopoulou T, Aspinall S, Melvin R, Lau JWL, Cheah WK, Tang MH, Oh HB, Ayuk J, Sutcliffe RP; International Pheo Study Group. Verhoeff K, et al. Among authors: perry h. Ann Surg Oncol. 2024 Dec 4. doi: 10.1245/s10434-024-16591-0. Online ahead of print. Ann Surg Oncol. 2024. PMID: 39633172
Effectiveness of a package of community-based mental healthcare services to address perinatal mental disorders in Bangladesh: A cluster-randomized controlled trial.
Dutta GK, Ahmed HU, Talukder MQ, Bhattacharyya DS, Reza MS, Rahman MM, Majumdar R, Tofail F, Perry HB, Biswas TK. Dutta GK, et al. Among authors: perry hb. Asian J Psychiatr. 2024 Dec;102:104290. doi: 10.1016/j.ajp.2024.104290. Epub 2024 Oct 25. Asian J Psychiatr. 2024. PMID: 39500096 Clinical Trial.
1,103 results