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Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J, Speer L, Pepper T, Anthony K, Graglia JM, Delagrammatikas CG, Bedrosian-Sermone S, Smith-Hicks C, Huba K, Longyear R, Green-Snyder L, Shic F, Sahin M, Eng C, Hardan AY, Uljarević M. Frazier TW, et al. Among authors: harris j. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32058. doi: 10.1002/ajmg.c.32058. Epub 2023 Aug 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 37534867
Anxiety in Wiedemann-Steiner syndrome.
Ng R, Bjornsson HT, Fahrner JA, Harris J. Ng R, et al. Among authors: harris j. Am J Med Genet A. 2023 Feb;191(2):437-444. doi: 10.1002/ajmg.a.63040. Epub 2022 Nov 14. Am J Med Genet A. 2023. PMID: 36373844 Free PMC article.
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J, Speer L, Pepper T, Anthony K, Graglia JM, Delagrammatikas C, Bedrosian-Sermone S, Beekhuyzen J, Smith-Hicks C, Sahin M, Eng C, Hardan AY, Uljarević M. Frazier TW, et al. Among authors: harris j. Am J Med Genet A. 2023 Jul;191(7):1741-1757. doi: 10.1002/ajmg.a.63195. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37045800
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: harris j. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: harris jr. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Sleep disturbance is a common feature of Kabuki syndrome.
Rapp T, Kalinousky AJ, Johnson J, Bjornsson H, Harris J. Rapp T, et al. Among authors: harris j. Am J Med Genet A. 2022 Oct;188(10):3041-3048. doi: 10.1002/ajmg.a.62921. Epub 2022 Aug 5. Am J Med Genet A. 2022. PMID: 35930004 Free PMC article.
Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.
Vedmurthy P, Murray C, Chen B, Asiedu A, Baranano K, Bay M, Belcher H, Burton V, Conlon C, Fine A, Gill R, Harris J, Hart K, Inches S, Johnson J, Lance E, Lipkin PH, Menon DU, McIntyre T, Rajaprakash M, Recio A, Singer HS, Smegal L, Smith-Hicks CL, Vernon H, Wilms Floet AM, Wong J, Yelin K, Leppert MLO, Zabel TA, Comi AM. Vedmurthy P, et al. Among authors: harris j. Front Rehabil Sci. 2022 Oct 6;3:934558. doi: 10.3389/fresc.2022.934558. eCollection 2022. Front Rehabil Sci. 2022. PMID: 36275920 Free PMC article.
9,629 results