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Leveraging genomics to understand threats to migratory birds.
Larison B, Lindsay AR, Bossu C, Sorenson MD, Kaplan JD, Evers DC, Paruk J, DaCosta JM, Smith TB, Ruegg K. Larison B, et al. Among authors: kaplan jd. Evol Appl. 2021 Apr 10;14(6):1646-1658. doi: 10.1111/eva.13231. eCollection 2021 Jun. Evol Appl. 2021. PMID: 34178110 Free PMC article.
MYRF-Related Cardiac Urogenital Syndrome.
Kaplan JD, Stewart B, Prasov L, Pyle LC. Kaplan JD, et al. 2022 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Nov 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36375006 Free Books & Documents. Review.
Long-Term Trends in Secondhand Smoke Exposure in High-Rise Housing Serving Low-Income Residents in New York City: Three-Year Evaluation of a Federal Smoking Ban in Public Housing, 2018-2021.
Anastasiou E, Gordon T, Wyka K, Tovar A, Gill E, Rule AM, Elbel B, Kaplan JDS, Shelley D, Thorpe LE. Anastasiou E, et al. Among authors: kaplan jds. Nicotine Tob Res. 2023 Jan 1;25(1):164-169. doi: 10.1093/ntr/ntac202. Nicotine Tob Res. 2023. PMID: 36041039 Free PMC article.
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: kaplan jd. J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4. J Mol Med (Berl). 2021. PMID: 34661688 Free PMC article. No abstract available.
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: kaplan jd. J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18. J Mol Med (Berl). 2021. PMID: 34536092 Free PMC article. Review.
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: kaplan jd. 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.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K. Gripp KW, et al. Among authors: kaplan jd. Eur J Hum Genet. 2021 Sep;29(9):1384-1395. doi: 10.1038/s41431-021-00818-9. Epub 2021 Feb 16. Eur J Hum Genet. 2021. PMID: 33594261 Free PMC article.
Stay-at-Home Orders during the COVID-19 Pandemic Reduced Urban Water Use.
Li D, Engel RA, Ma X, Porse E, Kaplan JD, Margulis SA, Lettenmaier DP. Li D, et al. Among authors: kaplan jd. Environ Sci Technol Lett. 2021 Feb 10;8(5):431-436. doi: 10.1021/acs.estlett.0c00979. eCollection 2021 May 11. Environ Sci Technol Lett. 2021. PMID: 37566349
44 results