Works matching AU Conrad, Donald F.

Results: 40
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    PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.

    Published in:
    Genetic Epidemiology, 2025, v. 49, n. 1, p. 1, doi. 10.1002/gepi.22593
    By:
    • Ogloblinsky, Marie‐Sophie C.;
    • Bocher, Ozvan;
    • Aloui, Chaker;
    • Leutenegger, Anne‐Louise;
    • Ozisik, Ozan;
    • Baudot, Anaïs;
    • Tournier‐Lasserve, Elisabeth;
    • Castillo‐Madeen, Helen;
    • Lewinsohn, Daniel;
    • Conrad, Donald F.;
    • Génin, Emmanuelle;
    • Marenne, Gaëlle
    Publication type:
    Article
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    Variation in genome-wide mutation rates within and between human families.

    Published in:
    Nature Genetics, 2011, v. 43, n. 7, p. 712, doi. 10.1038/ng.862
    By:
    • Conrad, Donald F.;
    • Keebler, Jonathan E. M.;
    • DePristo, Mark A.;
    • Lindsay, Sarah J.;
    • Yujun Zhang;
    • Casals, Ferran;
    • Idaghdour, Youssef;
    • Hartl, Chris L.;
    • Torroja, Carlos;
    • Garimella, Kiran V.;
    • Zilversmit, Martine;
    • Cartwright, Reed;
    • Rouleau, Guy A.;
    • Daly, Mark;
    • Stone, Eric A.;
    • Hurles, Matthew E.;
    • Awadalla, Philip.
    Publication type:
    Article
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    Clonal Architecture of Secondary Acute Myeloid Leukemia Defined by Single-Cell Sequencing.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004462
    By:
    • Hughes, Andrew E. O.;
    • Magrini, Vincent;
    • Demeter, Ryan;
    • Miller, Christopher A.;
    • Fulton, Robert;
    • Fulton, Lucinda L.;
    • Eades, William C.;
    • Elliott, Kevin;
    • Heath, Sharon;
    • Westervelt, Peter;
    • Ding, Li;
    • Conrad, Donald F.;
    • White, Brian S.;
    • Shao, Jin;
    • Link, Daniel C.;
    • DiPersio, John F.;
    • Mardis, Elaine R.;
    • Wilson, Richard K.;
    • Ley, Timothy J.;
    • Walter, Matthew J.
    Publication type:
    Article
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    Cis and Trans Effects of Human Genomic Variants on Gene Expression.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004461
    By:
    • Bryois, Julien;
    • Buil, Alfonso;
    • Evans, David M.;
    • Kemp, John P.;
    • Montgomery, Stephen B.;
    • Conrad, Donald F.;
    • Ho, Karen M.;
    • Ring, Susan;
    • Hurles, Matthew;
    • Deloukas, Panos;
    • Davey Smith, George;
    • Dermitzakis, Emmanouil T.
    Publication type:
    Article
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    Recurrent 16p11.2 microdeletions in autism.

    Published in:
    Human Molecular Genetics, 2008, v. 17, n. 4, p. 628
    By:
    • Kumar, Ravinesh A.;
    • KaraMohamed, Samer;
    • Sudi, Jyotsna;
    • Conrad, Donald F.;
    • Brune, Camille;
    • Badner, Judith A.;
    • Gilliam, T. Conrad;
    • Nowak, Norma J.;
    • Cook, Edwin H.;
    • Dobyns, William B.;
    • Christian, Susan L.
    Publication type:
    Article
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    Haplotypic Background of a Private Allele at High Frequency in the Americas.

    Published in:
    Molecular Biology & Evolution, 2009, v. 26, n. 5, p. 995, doi. 10.1093/molbev/msp024
    By:
    • Schroeder, Kari B.;
    • Jakobsson, Mattias;
    • Crawford, Michael H.;
    • Schurr, Theodore G.;
    • Boca, Simina M.;
    • Conrad, Donald F.;
    • Tito, Raul Y.;
    • Osipova, Ludmilla P.;
    • Tarskaia, Larissa A.;
    • Zhadanov, Sergey I.;
    • Wall, Jeffrey D.;
    • Pritchard, Jonathan K.;
    • Malhi, Ripan S.;
    • Smith, David G.;
    • Rosenberg, Noah A.
    Publication type:
    Article
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    Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

    Published in:
    Human Genetics, 2021, v. 140, n. 1, p. 217, doi. 10.1007/s00439-020-02236-1
    By:
    • Salas-Huetos, Albert;
    • Tüttelmann, Frank;
    • Wyrwoll, Margot J.;
    • Kliesch, Sabine;
    • Lopes, Alexandra M.;
    • Goncalves, João;
    • Boyden, Steven E.;
    • Wöste, Marius;
    • Hotaling, James M.;
    • GEMINI Consortium;
    • Conrad, Donald F.;
    • Aston, Kenneth I.;
    • Carrell, Douglas T.;
    • Nagirnaja, Liina;
    • Jenkins, Timothy G.;
    • O'Bryan, Moira K.;
    • McLachlan, Rob;
    • Schlegel, Peter N.;
    • Eisenberg, Michael L.;
    • Sandlow, Jay I.
    Publication type:
    Article
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    Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

    Published in:
    2021
    By:
    • Salas-Huetos, Albert;
    • Tüttelmann, Frank;
    • Wyrwoll, Margot J.;
    • Kliesch, Sabine;
    • Lopes, Alexandra M.;
    • Gonçalves, João;
    • Boyden, Steven E.;
    • Wöste, Marius;
    • Hotaling, James M.;
    • GEMINI Consortium;
    • Conrad, Donald F.;
    • Aston, Kenneth I.;
    • Carrell, Douglas T.;
    • Nagirnaja, Liina;
    • Jenkins, Timothy G.;
    • O'Bryan, Moira K.;
    • McLachlan, Rob;
    • Schlegel, Peter N.;
    • Eisenberg, Michael L.;
    • Sandlow, Jay I.
    Publication type:
    Correction Notice
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    Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.pgen.1008691
    By:
    • Bustamante-Marin, Ximena M.;
    • Horani, Amjad;
    • Stoyanova, Mihaela;
    • Charng, Wu-Lin;
    • Bottier, Mathieu;
    • Sears, Patrick R.;
    • Yin, Wei-Ning;
    • Daniels, Leigh Anne;
    • Bowen, Hailey;
    • Conrad, Donald F.;
    • Knowles, Michael R.;
    • Ostrowski, Lawrence E.;
    • Zariwala, Maimoona A.;
    • Dutcher, Susan K.
    Publication type:
    Article
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    Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.

    Published in:
    2022
    By:
    • Kasak, Laura;
    • Lillepea, Kristiina;
    • Nagirnaja, Liina;
    • Aston, Kenneth I;
    • Schlegel, Peter N;
    • Gonçalves, João;
    • Carvalho, Filipa;
    • Moreno-Mendoza, Daniel;
    • Almstrup, Kristian;
    • Eisenberg, Michael L;
    • Jarvi, Keith A;
    • O'Bryan, Moira K;
    • Lopes, Alexandra M;
    • Conrad, Donald F;
    • Consortium, GEMINI;
    • Punab, Margus;
    • Laan, Maris;
    • GEMINI Consortium
    Publication type:
    journal article
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    Mapping copy number variation by population-scale genome sequencing.

    Published in:
    Nature, 2011, v. 470, n. 7332, p. 59, doi. 10.1038/nature09708
    By:
    • Mills, Ryan E.;
    • Walter, Klaudia;
    • Stewart, Chip;
    • Handsaker, Robert E.;
    • Chen, Ken;
    • Alkan, Can;
    • Abyzov, Alexej;
    • Yoon, Seungtai Chris;
    • Kai Ye;
    • Cheetham, R. Keira;
    • Chinwalla, Asif;
    • Conrad, Donald F.;
    • Yutao Fu;
    • Grubert, Fabian;
    • Hajirasouliha, Iman;
    • Hormozdiari, Fereydoun;
    • Iakoucheva, Lilia M.;
    • Iqbal, Zamin;
    • Shuli Kang;
    • Kidd, Jeffrey M.
    Publication type:
    Article
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    Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

    Published in:
    Nature, 2010, v. 464, n. 7289, p. 713, doi. 10.1038/nature08979
    By:
    • Craddock, Nick;
    • Hurles, Matthew E.;
    • Cardin, Niall;
    • Pearson, Richard D.;
    • Plagnol, Vincent;
    • Robson, Samuel;
    • Vukcevic, Damjan;
    • Barnes, Chris;
    • Conrad, Donald F.;
    • Giannoulatou, Eleni;
    • Holmes, Chris;
    • Marchini, Jonathan L.;
    • Stirrups, Kathy;
    • Tobin, Martin D.;
    • Wain, Louise V.;
    • Yau, Chris;
    • Aerts, Jan;
    • Ahmad, Tariq;
    • Andrews, T. Daniel;
    • Arbury, Hazel
    Publication type:
    Article
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    Origins and functional impact of copy number variation in the human genome.

    Published in:
    Nature, 2010, v. 464, n. 7289, p. 704, doi. 10.1038/nature08516
    By:
    • Conrad, Donald F.;
    • Pinto, Dalila;
    • Redon, Richard;
    • Feuk, Lars;
    • Gokcumen, Omer;
    • Yujun Zhang;
    • Aerts, Jan;
    • Andrews, T. Daniel;
    • Barnes, Chris;
    • Campbell, Peter;
    • Fitzgerald, Tomas;
    • Min Hu;
    • Chun Hwa Ihm;
    • Kristiansson, Kati;
    • MacArthur, Daniel G.;
    • MacDonald, Jeffrey R.;
    • Onyiah, Ifejinelo;
    • Wing Chun Pang, Andy;
    • Robson, Sam;
    • Stirrups, Kathy
    Publication type:
    Article
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