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Page 1
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.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Among authors: perry h. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146
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.
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.
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.
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
1,103 results