Works matching AU Schwartzentruber, Jeremy

Results: 61
    1

    Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

    Published in:
    Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942
    By:
    • Brodehl, Andreas;
    • Ferrier, Raechel A.;
    • Hamilton, Sara J.;
    • Greenway, Steven C.;
    • Brundler, Marie‐Anne;
    • Yu, Weiming;
    • Gibson, William T.;
    • McKinnon, Margaret L.;
    • McGillivray, Barbara;
    • Alvarez, Nanette;
    • Giuffre, Michael;
    • Schwartzentruber, Jeremy;
    • Gerull, Brenda
    Publication type:
    Article
    2

    GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
    By:
    • Au, P. Y. Billie;
    • You, Jing;
    • Caluseriu, Oana;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Bernier, Francois P.;
    • Ferguson, Marcia;
    • Valle, David;
    • Parboosingh, Jillian S.;
    • Sobreira, Nara;
    • Innes, A. Micheil;
    • Kline, Antonie D.
    Publication type:
    Article
    3

    Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

    Published in:
    Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffault, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Consortium, FORGE Canada;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
    4

    Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffaut, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
    5

    Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
    By:
    • Sawyer, Sarah L.;
    • Schwartzentruber, Jeremy;
    • Beaulieu, Chandree L.;
    • Dyment, David;
    • Smith, Amanda;
    • Chardon, Jodi Warman;
    • Yoon, Grace;
    • Rouleau, Guy A.;
    • Suchowersky, Oksana;
    • Siu, Victoria;
    • Murphy, Lisa;
    • Hegele, Robert A.;
    • Marshall, Christian R.;
    • Bulman, Dennis E.;
    • Majewski, Jacek;
    • Tarnopolsky, Mark;
    • Boycott, Kym M.
    Publication type:
    Article
    6

    Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.

    Published in:
    Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
    By:
    • Berryer, Martin H.;
    • Hamdan, Fadi F.;
    • Klitten, Laura L.;
    • Møller, Rikke S.;
    • Carmant, Lionel;
    • Schwartzentruber, Jeremy;
    • Patry, Lysanne;
    • Dobrzeniecka, Sylvia;
    • Rochefort, Daniel;
    • Neugnot‐Cerioli, Mathilde;
    • Lacaille, Jean‐Claude;
    • Niu, Zhiyv;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Palardy, Sylvain;
    • Belhumeur, Céline;
    • Rouleau, Guy A.;
    • Tommerup, Niels;
    • Immken, LaDonna;
    • Beauchamp, Miriam H.
    Publication type:
    Article
    7

    Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546
    By:
    • Majewski, Jacek;
    • Schwartzentruber, Jeremy A.;
    • Caqueret, Aurore;
    • Patry, Lysanne;
    • Marcadier, Janet;
    • Fryns, Jean-Pierre;
    • Boycott, Kym M.;
    • Ste-Marie, Louis-Georges;
    • McKiernan, Fergus E.;
    • Marik, Ivo;
    • Van Esch, Hilde;
    • Michaud, Jacques L.;
    • Samuels, Mark E.
    Publication type:
    Article
    8
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    Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 462, doi. 10.1038/ng.2950
    By:
    • Fontebasso, Adam M;
    • Papillon-Cavanagh, Simon;
    • Schwartzentruber, Jeremy;
    • Nikbakht, Hamid;
    • Gerges, Noha;
    • Fiset, Pierre-Olivier;
    • Bechet, Denise;
    • Faury, Damien;
    • De Jay, Nicolas;
    • Ramkissoon, Lori A;
    • Corcoran, Aoife;
    • Jones, David T W;
    • Sturm, Dominik;
    • Johann, Pascal;
    • Tomita, Tadanori;
    • Goldman, Stewart;
    • Nagib, Mahmoud;
    • Bendel, Anne;
    • Goumnerova, Liliana;
    • Bowers, Daniel C
    Publication type:
    Article
    10

    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
    By:
    • Mirzaa, Ghayda M;
    • Parry, David A;
    • Fry, Andrew E;
    • Giamanco, Kristin A;
    • Schwartzentruber, Jeremy;
    • Vanstone, Megan;
    • Logan, Clare V;
    • Roberts, Nicola;
    • Johnson, Colin A;
    • Singh, Shawn;
    • Kholmanskikh, Stanislav S;
    • Adams, Carissa;
    • Hodge, Rebecca D;
    • Hevner, Robert F;
    • Bonthron, David T;
    • Braun, Kees P J;
    • Faivre, Laurence;
    • Rivière, Jean-Baptiste;
    • St-Onge, Judith;
    • Gripp, Karen W
    Publication type:
    Article
    11

    Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.

    Published in:
    Nature Genetics, 2014, v. 46, n. 1, p. 39, doi. 10.1038/ng.2849
    By:
    • Kleinman, Claudia L;
    • Gerges, Noha;
    • Papillon-Cavanagh, Simon;
    • Sin-Chan, Patrick;
    • Pramatarova, Albena;
    • Quang, Dong-Anh Khuong;
    • Adoue, Véronique;
    • Busche, Stephan;
    • Caron, Maxime;
    • Djambazian, Haig;
    • Bemmo, Amandine;
    • Fontebasso, Adam M;
    • Spence, Tara;
    • Schwartzentruber, Jeremy;
    • Albrecht, Steffen;
    • Hauser, Peter;
    • Garami, Miklos;
    • Klekner, Almos;
    • Bognar, Laszlo;
    • Montes, Jose-Luis
    Publication type:
    Article
    12

    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 556, doi. 10.1038/ng.2602
    By:
    • McDonell, Laura M;
    • Mirzaa, Ghayda M;
    • Alcantara, Diana;
    • Schwartzentruber, Jeremy;
    • Carter, Melissa T;
    • Lee, Leo J;
    • Clericuzio, Carol L;
    • Graham, John M;
    • Morris-Rosendahl, Deborah J;
    • Polster, Tilman;
    • Acsadi, Gyula;
    • Townshend, Sharron;
    • Williams, Simon;
    • Halbert, Anne;
    • Isidor, Bertrand;
    • David, Albert;
    • Smyser, Christopher D;
    • Paciorkowski, Alex R;
    • Willing, Marcia;
    • Woulfe, John
    Publication type:
    Article
    13

    Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

    Published in:
    Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
    By:
    • Koenekoop, Robert K;
    • Wang, Hui;
    • Majewski, Jacek;
    • Wang, Xia;
    • Lopez, Irma;
    • Ren, Huanan;
    • Chen, Yiyun;
    • Li, Yumei;
    • Fishman, Gerald A;
    • Genead, Mohammed;
    • Schwartzentruber, Jeremy;
    • Solanki, Naimesh;
    • Traboulsi, Elias I;
    • Cheng, Jingliang;
    • Logan, Clare V;
    • McKibbin, Martin;
    • Hayward, Bruce E;
    • Parry, David A;
    • Johnson, Colin A;
    • Nageeb, Mohammed
    Publication type:
    Article
    14

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

    Published in:
    Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
    By:
    • Rivière, Jean-Baptiste;
    • Mirzaa, Ghayda M;
    • O'Roak, Brian J;
    • Beddaoui, Margaret;
    • Alcantara, Diana;
    • Conway, Robert L;
    • St-Onge, Judith;
    • Schwartzentruber, Jeremy A;
    • Gripp, Karen W;
    • Nikkel, Sarah M;
    • Worthylake, Thea;
    • Sullivan, Christopher T;
    • Ward, Thomas R;
    • Butler, Hailly E;
    • Kramer, Nancy A;
    • Albrecht, Beate;
    • Armour, Christine M;
    • Armstrong, Linlea;
    • Caluseriu, Oana;
    • Cytrynbaum, Cheryl
    Publication type:
    Article
    15

    Genome-Wide Mouse Mutagenesis Reveals CD45-Mediated T Cell Function as Critical in Protective Immunity to HSV-1.

    Published in:
    PLoS Pathogens, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.ppat.1003637
    By:
    • Caignard, Grégory;
    • Leiva-Torres, Gabriel A.;
    • Leney-Greene, Michael;
    • Charbonneau, Benoit;
    • Dumaine, Anne;
    • Fodil-Cornu, Nassima;
    • Pyzik, Michal;
    • Cingolani, Pablo;
    • Schwartzentruber, Jeremy;
    • Dupaul-Chicoine, Jeremy;
    • Guo, Huaijian;
    • Saleh, Maya;
    • Veillette, André;
    • Lathrop, Marc;
    • Blanchette, Mathieu;
    • Majewski, Jacek;
    • Pearson, Angela;
    • Vidal, Silvia M.
    Publication type:
    Article
    16

    Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.

    Published in:
    Acta Neuropathologica, 2013, v. 125, n. 5, p. 659, doi. 10.1007/s00401-013-1095-8
    By:
    • Fontebasso, Adam;
    • Schwartzentruber, Jeremy;
    • Khuong-Quang, Dong-Anh;
    • Liu, Xiao-Yang;
    • Sturm, Dominik;
    • Korshunov, Andrey;
    • Jones, David;
    • Witt, Hendrik;
    • Kool, Marcel;
    • Albrecht, Steffen;
    • Fleming, Adam;
    • Hadjadj, Djihad;
    • Busche, Stephan;
    • Lepage, Pierre;
    • Montpetit, Alexandre;
    • Staffa, Alfredo;
    • Gerges, Noha;
    • Zakrzewska, Magdalena;
    • Zakrzewski, Krzystof;
    • Liberski, Pawel
    Publication type:
    Article
    17

    Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/ IDH2 and TP53 mutations.

    Published in:
    Acta Neuropathologica, 2012, v. 124, n. 5, p. 615, doi. 10.1007/s00401-012-1031-3
    By:
    • Liu, Xiao-Yang;
    • Gerges, Noha;
    • Korshunov, Andrey;
    • Sabha, Nesrin;
    • Khuong-Quang, Dong-Anh;
    • Fontebasso, Adam;
    • Fleming, Adam;
    • Hadjadj, Djihad;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Dong, Zhifeng;
    • Siegel, Peter;
    • Albrecht, Steffen;
    • Croul, Sidney;
    • Jones, David;
    • Kool, Marcel;
    • Tonjes, Martje;
    • Reifenberger, Guido;
    • Faury, Damien;
    • Zadeh, Gelareh
    Publication type:
    Article
    18

    K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.

    Published in:
    Acta Neuropathologica, 2012, v. 124, n. 3, p. 439, doi. 10.1007/s00401-012-0998-0
    By:
    • Khuong-Quang, Dong-Anh;
    • Buczkowicz, Pawel;
    • Rakopoulos, Patricia;
    • Liu, Xiao-Yang;
    • Fontebasso, Adam;
    • Bouffet, Eric;
    • Bartels, Ute;
    • Albrecht, Steffen;
    • Schwartzentruber, Jeremy;
    • Letourneau, Louis;
    • Bourgey, Mathieu;
    • Bourque, Guillaume;
    • Montpetit, Alexandre;
    • Bourret, Genevieve;
    • Lepage, Pierre;
    • Fleming, Adam;
    • Lichter, Peter;
    • Kool, Marcel;
    • Deimling, Andreas;
    • Sturm, Dominik
    Publication type:
    Article
    19

    Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.

    Published in:
    Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0052-4
    By:
    • Hatzikotoulas, Konstantinos;
    • Roposch, Andreas;
    • Shah, Karan M.;
    • Clark, Matthew J.;
    • Bratherton, Selina;
    • Limbani, Vasanti;
    • Steinberg, Julia;
    • Zengini, Eleni;
    • Warsame, Kaltuun;
    • Ratnayake, Madhushika;
    • Tselepi, Maria;
    • Schwartzentruber, Jeremy;
    • Loughlin, John;
    • Eastwood, Deborah M.;
    • Zeggini, Eleftheria;
    • Wilkinson, J. Mark
    Publication type:
    Article
    20

    A proteome- wide genetic investigation identifies several SARS- CoV-2- exploited host targets of clinical relevance.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.69719
    By:
    • Anisul, Mohd;
    • Shilts, Jarrod;
    • Schwartzentruber, Jeremy;
    • Hayhurst, James;
    • Buniello, Annalisa;
    • Mohammed, Elmutaz Shaikho Elhaj;
    • Zheng, Jie;
    • Holmes, Michael;
    • Ochoa, David;
    • Carmona, Miguel;
    • Maranville, Joseph;
    • Gaunt, Tom R.;
    • Emilsson, Valur;
    • Gudnason, Vilmundur;
    • McDonagh, Ellen M.;
    • Wright, Gavin J.;
    • Ghoussaini, Maya;
    • Dunham, Ian
    Publication type:
    Article
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    Artificial intelligence for dementia genetics and omics.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 12, p. 5905, doi. 10.1002/alz.13427
    By:
    • Bettencourt, Conceicao;
    • Skene, Nathan;
    • Bandres‐Ciga, Sara;
    • Anderson, Emma;
    • Winchester, Laura M.;
    • Foote, Isabelle F.;
    • Schwartzentruber, Jeremy;
    • Botia, Juan A.;
    • Nalls, Mike;
    • Singleton, Andrew;
    • Schilder, Brian M.;
    • Humphrey, Jack;
    • Marzi, Sarah J.;
    • Toomey, Christina E.;
    • Kleifat, Ahmad Al;
    • Harshfield, Eric L.;
    • Garfield, Victoria;
    • Sandor, Cynthia;
    • Keat, Samuel;
    • Tamburin, Stefano
    Publication type:
    Article
    30

    Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
    By:
    • Marcadier, Julien L.;
    • Smith, Amanda M.;
    • Pohl, Daniela;
    • Schwartzentruber, Jeremy;
    • Al-Dirbashi, Osama Y.;
    • Majewski, Jacek;
    • Ferdinandusse, Sacha;
    • Wanders, Ronald J. A.;
    • Bulman, Dennis E.;
    • Boycott, Kym M.;
    • Chakraborty, Pranesh;
    • Geraghty, Michael T.
    Publication type:
    Article
    31

    Intellectual disability associated with a homozygous missense mutation in THOC6.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
    By:
    • Beaulieu, Chandree L.;
    • Huang, Lijia;
    • Micheil Innes, A.;
    • Akimenko, Marie-Andree;
    • Puffenberger, Erik G.;
    • Schwartz, Charles;
    • Jerry, Paul;
    • Ober, Carole;
    • Hegele, Robert A.;
    • Ross McLeod, D.;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Parboosingh, Jillian S.;
    • Boycott, Kym M.
    Publication type:
    Article
    32
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    Intellectual disability associated with a homozygous missense mutation in THOC6.

    Published in:
    2013
    By:
    • Beaulieu, Chandree L;
    • Huang, Lijia;
    • Innes, A Micheil;
    • Akimenko, Marie-Andree;
    • Puffenberger, Erik G;
    • Schwartz, Charles;
    • Jerry, Paul;
    • Ober, Carole;
    • Hegele, Robert A;
    • McLeod, D Ross;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Bulman, Dennis E;
    • Parboosingh, Jillian S;
    • Boycott, Kym M;
    • FORGE Canada Consortium
    Publication type:
    journal article
    34

    Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

    Published in:
    2012
    By:
    • McMillan, Hugh J;
    • Worthylake, Thea;
    • Schwartzentruber, Jeremy;
    • Gottlieb, Chloe C;
    • Lawrence, Sarah E;
    • Mackenzie, Alex;
    • Beaulieu, Chandree L;
    • Mooyer, Petra A W;
    • Wanders, Ronald J A;
    • Majewski, Jacek;
    • Bulman, Dennis E;
    • Geraghty, Michael T;
    • Ferdinandusse, Sacha;
    • Boycott, Kym M;
    • FORGE Canada Consortium
    Publication type:
    journal article
    35

    Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
    By:
    • McMillan, Hugh J.;
    • Worthylake, Thea;
    • Schwartzentruber, Jeremy;
    • Gottlieb, Chloe C.;
    • Lawrence, Sarah E.;
    • MacKenzie, Alex;
    • Beaulieu, Chandree L.;
    • W. Mooyer, Petra A.;
    • A. Wanders, Ronald J.;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Geraghty, Michael T.;
    • Ferdinandusse, Sacha;
    • Boycott, Kym M.
    Publication type:
    Article
    36
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    A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7
    By:
    • Smith, Amanda C.;
    • Ito, Yoko;
    • Ahmed, Afsana;
    • Schwartzentruber, Jeremy A.;
    • Beaulieu, Chandree L.;
    • Aberg, Erika;
    • Majewski, Jacek;
    • Bulman, Dennis E.;
    • Horsting-Wethly, Karina;
    • Koning, Diana Vermunt-de;
    • Care4Rare Canada Consortium;
    • Rodenburg, Richard J.;
    • Boycott, Kym M.;
    • Penney, Lynette S.
    Publication type:
    Article
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    Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
    By:
    • McMillan, Hugh J.;
    • Humphreys, Peter;
    • Smith, Amanda;
    • Schwartzentruber, Jeremy;
    • Chakraborty, Pranesh;
    • Bulman, Dennis E.;
    • Beaulieu, Chandree L.;
    • Majewski, Jacek;
    • Boycott, Kym M.;
    • Geraghty, Michael T.
    Publication type:
    Article
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    next-generation Open Targets Platform: reimagined, redesigned, rebuilt.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D1353, doi. 10.1093/nar/gkac1046
    By:
    • Ochoa, David;
    • Hercules, Andrew;
    • Carmona, Miguel;
    • Suveges, Daniel;
    • Baker, Jarrod;
    • Malangone, Cinzia;
    • Lopez, Irene;
    • Miranda, Alfredo;
    • Cruz-Castillo, Carlos;
    • Fumis, Luca;
    • Bernal-Llinares, Manuel;
    • Tsukanov, Kirill;
    • Cornu, Helena;
    • Tsirigos, Konstantinos;
    • Razuvayevskaya, Olesya;
    • Buniello, Annalisa;
    • Schwartzentruber, Jeremy;
    • Karim, Mohd;
    • Ariano, Bruno;
    • Martinez Osorio, Ricardo Esteban
    Publication type:
    Article
    45
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    47

    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

    Published in:
    Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
    By:
    • Lynch, Danielle C.;
    • Revil, Timothée;
    • Schwartzentruber, Jeremy;
    • Bhoj, Elizabeth J.;
    • Innes, A. Micheil;
    • Lamont, Ryan E.;
    • Lemire, Edmond G.;
    • Chodirker, Bernard N.;
    • Taylor, Juliet P.;
    • Zackai, Elaine H.;
    • McLeod, D. Ross;
    • Kirk, Edwin P.;
    • Hoover-Fong, Julie;
    • Fleming, Leah;
    • Savarirayan, Ravi;
    • Majewski, Jacek;
    • Jerome-Majewska, Loydie A.;
    • Parboosingh, Jillian S.;
    • Bernier, Francois P.
    Publication type:
    Article
    48

    A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

    Published in:
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    49

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    Bioinformatics, 2019, v. 35, n. 15, p. 2555, doi. 10.1093/bioinformatics/bty1032
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    50