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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study; Sticht H, Gregor A, Van Esch H, Zweier C. Konrad EDH, et al. Among authors: chang vy. Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239556 Free PMC article.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: chang vy. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
Is polycystic kidney disease associated with malignancy in children?
Friend BD, Wolfe Schneider K, Garrington T, Truscott L, Martinez-Agosto JA, Venick RS, Tsai Chambers E, Weng P, Farmer DG, Chang VY, Federman N. Friend BD, et al. Among authors: chang vy. Mol Genet Genomic Med. 2019 Jul;7(7):e00725. doi: 10.1002/mgg3.725. Epub 2019 Jun 14. Mol Genet Genomic Med. 2019. PMID: 31197971 Free PMC article.
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
Crane JN, Chang VY, Yong WH, Salamon N; Hane Lee for UCLA Clinical Genomics Center; Kianmahd J, Dorrani N, Martinez-Agosto JA, Davidson TB. Crane JN, et al. Among authors: chang vy. Pediatr Blood Cancer. 2020 Mar;67(3):e28103. doi: 10.1002/pbc.28103. Epub 2019 Dec 2. Pediatr Blood Cancer. 2020. PMID: 31793173 Free PMC article. No abstract available.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P; UCLA Clinical Genomics Center; Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT. Chenbhanich J, et al. Among authors: chang vy. Am J Med Genet A. 2021 May;185(5):1430-1436. doi: 10.1002/ajmg.a.62126. Epub 2021 Mar 8. Am J Med Genet A. 2021. PMID: 33683022
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Paganini I, et al. Among authors: chang vy. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. Eur J Hum Genet. 2015. PMID: 25335493 Free PMC article.
59 results