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Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Ritter AL, et al. Among authors: asher sb. Am J Med Genet A. 2018 Sep;176(9):1890-1896. doi: 10.1002/ajmg.a.40380. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152016
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleef… See abstract for full author list ➔ Johnson BV, et al. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative.
Lau-Min KS, Asher SB, Chen J, Domchek SM, Feldman M, Joffe S, Landgraf J, Speare V, Varughese LA, Tuteja S, VanZandbergen C, Ritchie MD, Nathanson KL. Lau-Min KS, et al. Among authors: asher sb. Genet Med. 2021 Apr;23(4):603-605. doi: 10.1038/s41436-020-01056-y. Epub 2020 Dec 10. Genet Med. 2021. PMID: 33299147 Free PMC article. No abstract available.
Impact of integrating genomic data into the electronic health record on genetics care delivery.
Lau-Min KS, McKenna D, Asher SB, Bardakjian T, Wollack C, Bleznuck J, Biros D, Anantharajah A, Clark DF, Condit C, Ebrahimzadeh JE, Long JM, Powers J, Raper A, Schoenbaum A, Feldman M, Steinfeld L, Tuteja S, VanZandbergen C, Domchek SM, Ritchie MD, Landgraf J, Chen J, Nathanson KL. Lau-Min KS, et al. Among authors: asher sb. Genet Med. 2022 Nov;24(11):2338-2350. doi: 10.1016/j.gim.2022.08.009. Epub 2022 Sep 15. Genet Med. 2022. PMID: 36107166 Free PMC article.
12 results