Found: 19

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  • The effects of common structural variants on 3D chromatin structure.

    Published in:
    BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-6516-1
    By:
    • Shanta, Omar;
    • Noor, Amina;
    • Human Genome Structural Variation Consortium (HGSVC);
    • Chaisson, Mark J. P.;
    • Sanders, Ashley D.;
    • Zhao, Xuefang;
    • Malhotra, Ankit;
    • Porubsky, David;
    • Rausch, Tobias;
    • Gardner, Eugene J.;
    • Rodriguez, Oscar L.;
    • Guo, Li;
    • Collins, Ryan L.;
    • Fan, Xian;
    • Wen, Jia;
    • Handsaker, Robert E.;
    • Fairley, Susan;
    • Kronenberg, Zev N.;
    • Kong, Xiangmeng;
    • Hormozdiari, Fereydoun
    Publication type:
    Article

  • Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1154
    By:
    • Lilleväli, Hardo;
    • Pajusalu, Sander;
    • Wojcik, Monica H.;
    • Goodrich, Julia;
    • Collins, Ryan L.;
    • Murumets, Ülle;
    • Tammur, Pille;
    • Blau, Nenad;
    • Lilleväli, Kersti;
    • Õunap, Katrin
    Publication type:
    Article

  • Multifactor dimensionality reduction reveals a three-locus epistatic interaction associated with susceptibility to pulmonary tuberculosis.

    Published in:
    BioData Mining, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0381-6-4
    By:
    • Collins, Ryan L.;
    • Ting Hu;
    • Wejse, Christian;
    • Sirugo, Giorgio;
    • Williams, Scott M.;
    • Moore, Jason H.
    Publication type:
    Article

  • Cover Image, Volume 173A, Number 2, February 2017.

    Published in:
    2017
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Other

  • Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 395, doi. 10.1002/ajmg.a.38021
    By:
    • Maussion, Gilles;
    • Cruceanu, Cristiana;
    • Rosenfeld, Jill A.;
    • Bell, Scott C.;
    • Jollant, Fabrice;
    • Szatkiewicz, Jin;
    • Collins, Ryan L.;
    • Hanscom, Carrie;
    • Kolobova, Ilaria;
    • de Champfleur, Nicolas Menjot;
    • Blumenthal, Ian;
    • Chiang, Colby;
    • Ota, Vanessa;
    • Hultman, Christina;
    • O'Dushlaine, Colm;
    • McCarroll, Steve;
    • Alda, Martin;
    • Jacquemont, Sebastien;
    • Ordulu, Zehra;
    • Marshall, Christian R.
    Publication type:
    Article

  • CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

    Published in:
    Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
    By:
    • Macnee, Marie;
    • Pérez-Palma, Eduardo;
    • Brünger, Tobias;
    • Klöckner, Chiara;
    • Platzer, Konrad;
    • Stefanski, Arthur;
    • Montanucci, Ludovica;
    • Bayat, Allan;
    • Radtke, Maximilian;
    • Collins, Ryan L;
    • Talkowski, Michael;
    • Blankenberg, Daniel;
    • Møller, Rikke S;
    • Lemke, Johannes R;
    • Nothnagel, Michael;
    • May, Patrick;
    • Lal, Dennis
    Publication type:
    Article

  • Indexcov: fast coverage quality control for whole-genome sequencing.

    Published in:
    GigaScience, 2017, v. 6, n. 11, p. 1, doi. 10.1093/gigascience/gix090
    By:
    • Pedersen, Brent S.;
    • Collins, Ryan L.;
    • Talkowski, Michael E.;
    • Quinlan, Aaron R.
    Publication type:
    Article

  • Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

    Published in:
    Nature Communications, 2023, n. 1, p. 1, doi. 10.1038/s41467-023-39539-6
    By:
    • Montanucci, Ludovica;
    • Lewis-Smith, David;
    • Collins, Ryan L.;
    • Niestroj, Lisa-Marie;
    • Parthasarathy, Shridhar;
    • Xian, Julie;
    • Ganesan, Shiva;
    • Macnee, Marie;
    • Brünger, Tobias;
    • Thomas, Rhys H.;
    • Talkowski, Michael;
    • Motelow, Joshua E.;
    • Povysil, Gundula;
    • Dhindsa, Ryan S.;
    • Stanley, Kate E.;
    • Allen, Andrew S.;
    • Goldstein, David B.;
    • Feng, Yen-Chen Anne;
    • Howrigan, Daniel P.;
    • Abbott, Liam E.
    Publication type:
    Article

  • Multi-platform discovery of haplotype-resolved structural variation in human genomes.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-018-08148-z
    By:
    • Chaisson, Mark J. P.;
    • Sanders, Ashley D.;
    • Zhao, Xuefang;
    • Malhotra, Ankit;
    • Porubsky, David;
    • Rausch, Tobias;
    • Gardner, Eugene J.;
    • Rodriguez, Oscar L.;
    • Guo, Li;
    • Collins, Ryan L.;
    • Fan, Xian;
    • Wen, Jia;
    • Handsaker, Robert E.;
    • Fairley, Susan;
    • Kronenberg, Zev N.;
    • Kong, Xiangmeng;
    • Hormozdiari, Fereydoun;
    • Lee, Dillon;
    • Wenger, Aaron M.;
    • Hastie, Alex R.
    Publication type:
    Article

  • An information-gain approach to detecting three-way epistatic interactions in genetic association studies.

    Published in:
    Journal of the American Medical Informatics Association, 2013, v. 20, n. 4, p. 630, doi. 10.1136/amiajnl-2012-001525
    By:
    • Ting Hu;
    • Yuanzhu Chen;
    • Kiralis, Jeff W.;
    • Collins, Ryan L.;
    • Wejse, Christian;
    • Sirugo, Giorgio;
    • Williams, Scott M.;
    • Moore, Jason H.
    Publication type:
    Article

  • Primary cilia defects causing mitral valve prolapse.

    Published in:
    Science Translational Medicine, 2019, v. 11, n. 493, p. N.PAG, doi. 10.1126/scitranslmed.aax0290
    By:
    • Toomer, Katelynn A.;
    • Yu, Mengyao;
    • Fulmer, Diana;
    • Guo, Lilong;
    • Moore, Kelsey S.;
    • Moore, Reece;
    • Drayton, Ka'la D.;
    • Glover, Janiece;
    • Peterson, Neal;
    • Ramos-Ortiz, Sandra;
    • Drohan, Alex;
    • Catching, Breiona J.;
    • Stairley, Rebecca;
    • Wessels, Andy;
    • Lipschutz, Joshua H.;
    • Delling, Francesca N.;
    • Jeunemaitre, Xavier;
    • Dina, Christian;
    • Collins, Ryan L.;
    • Brand, Harrison
    Publication type:
    Article

  • Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 3/4, p. 135, doi. 10.1093/hmg/ddaa283
    By:
    • Jung, Roy;
    • Lee, Yejin;
    • Barker, Douglas;
    • Correia, Kevin;
    • Shin, Baehyun;
    • Loupe, Jacob;
    • Collins, Ryan L;
    • Lucente, Diane;
    • Ruliera, Jayla;
    • Gillis, Tammy;
    • Mysore, Jayalakshmi S;
    • Rodan, Lance;
    • Picker, Jonathan;
    • Lee, Jong-Min;
    • Howland, David;
    • Lee, Ramee;
    • Kwak, Seung;
    • MacDonald, Marcy E;
    • Gusella, James F;
    • Seong, Ihn Sik
    Publication type:
    Article

  • Loss of δ-catenin function in severe autism.

    Published in:
    Nature, 2015, v. 520, n. 7545, p. 51, doi. 10.1038/nature14186
    By:
    • Turner, Tychele N.;
    • Sharma, Kamal;
    • Oh, Edwin C.;
    • Liu, Yangfan P.;
    • Collins, Ryan L.;
    • Sosa, Maria X.;
    • Auer, Dallas R.;
    • Brand, Harrison;
    • Sanders, Stephan J.;
    • Moreno-De-Luca, Daniel;
    • Pihur, Vasyl;
    • Plona, Teri;
    • Pike, Kristen;
    • Soppet, Daniel R.;
    • Smith, Michael W.;
    • Cheung, Sau Wai;
    • Martin, Christa Lese;
    • State, Matthew W.;
    • Talkowski, Michael E.;
    • Cook, Edwin
    Publication type:
    Article

  • Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1158-6
    By:
    • Collins, Ryan L.;
    • Brand, Harrison;
    • Redin, Claire E.;
    • Hanscom, Carrie;
    • Antolik, Caroline;
    • Stone, Matthew R.;
    • Glessner, Joseph T.;
    • Mason, Tamara;
    • Pregno, Giulia;
    • Dorrani, Naghmeh;
    • Mandrile, Giorgia;
    • Giachino, Daniela;
    • Perrin, Danielle;
    • Walsh, Cole;
    • Cipicchio, Michelle;
    • Costello, Maura;
    • Stortchevoi, Alexei;
    • Joon-Yong An;
    • Currall, Benjamin B.;
    • Seabra, Catarina M.
    Publication type:
    Article

  • Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    2021
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Correction Notice

  • Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    2021
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Correction Notice

  • Functional annotation of rare structural variation in the human brain.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16736-1
    By:
    • Han, Lide;
    • Zhao, Xuefang;
    • Benton, Mary Lauren;
    • Perumal, Thaneer;
    • Collins, Ryan L.;
    • Hoffman, Gabriel E.;
    • Johnson, Jessica S.;
    • Sloofman, Laura;
    • Wang, Harold Z.;
    • Stone, Matthew R.;
    • CommonMind Consortium;
    • Akbarian, Schahram;
    • Bendl, Jaroslav;
    • Breen, Michael;
    • Brennand, Kristen J.;
    • Brown, Leanne;
    • Browne, Andrew;
    • Buxbaum, Joseph D.;
    • Charney, Alexander;
    • Chess, Andrew
    Publication type:
    Article

  • Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-12438-5
    By:
    • Wang, Qingbo;
    • Pierce-Hoffman, Emma;
    • Cummings, Beryl B.;
    • Alföldi, Jessica;
    • Francioli, Laurent C.;
    • Gauthier, Laura D.;
    • Hill, Andrew J.;
    • O'Donnell-Luria, Anne H.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.;
    • Covarrubias, Miguel;
    • Daly, Mark J.;
    • Donnelly, Stacey;
    • Farjoun, Yossi;
    • Ferriera, Steven
    Publication type:
    Article

  • Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-10717-9
    By:
    • Whiffin, Nicola;
    • Karczewski, Konrad J.;
    • Zhang, Xiaolei;
    • Chothani, Sonia;
    • Smith, Miriam J.;
    • Evans, D. Gareth;
    • Roberts, Angharad M.;
    • Quaife, Nicholas M.;
    • Schafer, Sebastian;
    • Rackham, Owen;
    • Alföldi, Jessica;
    • O'Donnell-Luria, Anne H.;
    • Francioli, Laurent C.;
    • Genome Aggregation Database Production Team;
    • Armean, Irina M.;
    • Banks, Eric;
    • Bergelson, Louis;
    • Cibulskis, Kristian;
    • Collins, Ryan L.;
    • Connolly, Kristen M.
    Publication type:
    Article