Publication > Page 47
  • Investigative Ophthalmology & Visual Science  ·  February 1, 2021

    The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.

    Cole BS, Gudiseva HV, Pistilli M, Salowe R, McHugh CP, Zody MC, Chavali VRM, Ying GS, Moore JH, O’Brien JM.

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  • Genome Biology  ·  January 26, 2021

    Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.

    Alvaro N Barbeira, Rodrigo Bonazzola, Eric R Gamazon, Yanyu Liang, YoSon Park, Sarah Kim-Hellmuth, Gao Wang, Zhuoxun Jiang, Dan Zhou, Farhad Hormozdiari, Boxiang Liu, Abhiram Rao, Andrew R Hamel, Milton D Pividori, François Aguet, GTEx GWAS Working Group, Lisa Bastarache, Daniel M Jordan, Marie Verbanck, Ron Do, GTEx Consortium, Matthew Stephens, Kristin Ardlie, Mark McCarthy, Stephen B Montgomery, Ayellet V Segrè, Christopher D. Brown, Tuuli Lappalainen, Xiaoquan Wen, Hae Kyung Im.

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  • American Journal of Human Genetics  ·  January 25, 2021

    De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

    Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O’Donnell-Luria A, Rehm HL, Mane S, D’Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S

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  • Trials  ·  January 14, 2021

    The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.

    Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE.

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  • Nature Structural & Molecular Biology  ·  January 4, 2021

    Structural and functional characterization of the Spo11 core complex.

    Corentin Claeys Bouuaert, Sam E. Tischfield, Stephen Pu, Eleni P. Mimitou, Ernesto Arias-Palomo, James M. Berger & Scott Keeney

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  • Nature Methods  ·  January 4, 2021

    Quantum computing at the frontiers of biological sciences.

    Prashant S. Emani, Jonathan Warrell, Alan Anticevic, Stefan Bekiranov, Michael Gandal, Michael J. McConnell, Guillermo Sapiro, Alán Aspuru-Guzik, Justin T. Baker, Matteo Bastiani, John D. Murray, Stamatios N. Sotiropoulos, Jacob Taylor, Geetha Senthil, Thomas Lehner, Mark B. Gerstein & Aram W. Harrow

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  • J Am Acad Child Adolesc Psychiatry  ·  December 28, 2020

    Genetic Studies of Mental Illness: Are Children Being Left Behind?

    Posner J, Biezonski D, Pieper S, Duarte CS.

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