Works matching AU Majewski, Jacek

Results: 165
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    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.

    Published in:
    Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
    By:
    • Kernohan, Kristin D.;
    • Dyment, David A.;
    • Pupavac, Mihaela;
    • Cramer, Zvi;
    • McBride, Arran;
    • Bernard, Genevieve;
    • Straub, Isabella;
    • Tetreault, Martine;
    • Hartley, Taila;
    • Huang, Lijia;
    • Sell, Erick;
    • Majewski, Jacek;
    • Rosenblatt, David S.;
    • Shoubridge, Eric;
    • Mhanni, Aziz;
    • Myers, Tara;
    • Proud, Virginia;
    • Vergano, Samanta;
    • Spangler, Brooke;
    • Farrow, Emily
    Publication type:
    Article
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    Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

    Published in:
    Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
    By:
    • Pupavac, Mihaela;
    • Watkins, David;
    • Petrella, Francis;
    • Fahiminiya, Somayyeh;
    • Janer, Alexandre;
    • Cheung, Warren;
    • Gingras, Anne‐Claude;
    • Pastinen, Tomi;
    • Muenzer, Joseph;
    • Majewski, Jacek;
    • Shoubridge, Eric A.;
    • Rosenblatt, David S.
    Publication type:
    Article
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    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
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    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
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    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
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    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
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    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
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    The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

    Published in:
    Genes, 2024, v. 15, n. 1, p. 27, doi. 10.3390/genes15010027
    By:
    • Aguilar-Mahecha, Adriana;
    • Alirezaie, Najmeh;
    • Lafleur, Josiane;
    • Bareke, Eric;
    • Przybytkowski, Ewa;
    • Lan, Cathy;
    • Cavallone, Luca;
    • Salem, Myriam;
    • Pelmus, Manuela;
    • Aleynikova, Olga;
    • Greenwood, Celia;
    • Lovato, Amanda;
    • Ferrario, Cristiano;
    • Boileau, Jean-François;
    • Mihalcioiu, Catalin;
    • Roy, Josée-Anne;
    • Marcus, Elizabeth;
    • Discepola, Federico;
    • Majewski, Jacek;
    • Basik, Mark
    Publication type:
    Article
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    Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145
    By:
    • Stiburkova, Blanka;
    • Majewski, Jacek;
    • Hodanova, Katerina;
    • Ondrova, Lenka;
    • Jerabkova, Marketa;
    • Zikanova, Marie;
    • Vylet'al, Petr;
    • Sebesta, Ivan;
    • Marinaki, Anthony;
    • Simmonds, Anne;
    • Matthijs, Gert;
    • Fryns, Jean-Pierre;
    • Torres, Rosa;
    • Puig, Juan Garcia;
    • Ott, Jurg;
    • Kmoch, Stanislav
    Publication type:
    Article
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    Thoracoscopic epicardial ablation of the left and right atrium.

    Published in:
    Polish Archives of Internal Medicine, 2012, v. 122, n. 5, p. 189, doi. 10.20452/pamw.1216
    By:
    • Bartuś, Krzysztof;
    • Kiser, Andy C.;
    • Majewski, Jacek;
    • Kapelak, Bogusław;
    • Konstanty-Kalandyk, Janusz;
    • Lelakowski, Jacek;
    • Bednarek, Jacek;
    • Bartuś, Stanisław;
    • Wierzbicki, Karol;
    • Sobczyński, Robert;
    • Sadowski, Jerzy
    Publication type:
    Article
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    Germline RECQL mutations are associated with breast cancer susceptibility.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 643, doi. 10.1038/ng.3284
    By:
    • Cybulski, Cezary;
    • Kluźniak, Wojciech;
    • Kashyap, Aniruddh;
    • Wokołorczyk, Dominika;
    • Huzarski, Tomasz;
    • Gronwald, Jacek;
    • Byrski, Tomasz;
    • Jakubowska, Anna;
    • Rudnicka, Helena;
    • Lener, Marcin;
    • Masojć, Bartłomiej;
    • Górski, Bohdan;
    • Dębniak, Tadeusz;
    • Lubiński, Jan;
    • Foulkes, William D;
    • Narod, Steven A;
    • Akbari, Mohammad R;
    • Carrot-Zhang, Jian;
    • Majewski, Jacek;
    • Rivera, Barbara
    Publication type:
    Article
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    Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article
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    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
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    Correction.

    Published in:
    2009
    By:
    • Bemmo, Amandine;
    • Benovoy, David;
    • Kwan, Tony;
    • Gaffney, Daniel J.;
    • Jensen, Roderick V.;
    • Majewski, Jacek
    Publication type:
    Correction Notice
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    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
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    Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brain.

    Published in:
    Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01109-5
    By:
    • Pomeroy, Joanna;
    • Borczyk, Malgorzata;
    • Kawalec, Maria;
    • Hajto, Jacek;
    • Carlson, Emma;
    • Svärd, Samuel;
    • Verma, Suraj;
    • Bareke, Eric;
    • Boratyńska-Jasińska, Anna;
    • Dymkowska, Dorota;
    • Mellado-Ibáñez, Alvaro;
    • Laight, David;
    • Zabłocki, Krzysztof;
    • Occhipinti, Annalisa;
    • Majewska, Loydie;
    • Angione, Claudio;
    • Majewski, Jacek;
    • Yegutkin, Gennady G.;
    • Korostynski, Michal;
    • Zabłocka, Barbara
    Publication type:
    Article
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    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
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    ARGV: 3D genome structure exploration using augmented reality.

    Published in:
    BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05882-8
    By:
    • Drogaris, Chrisostomos;
    • Zhang, Yanlin;
    • Zhang, Eric;
    • Nazarova, Elena;
    • Sarrazin-Gendron, Roman;
    • Wilhelm-Landry, Sélik;
    • Cyr, Yan;
    • Majewski, Jacek;
    • Blanchette, Mathieu;
    • Waldispühl, Jérôme
    Publication type:
    Article
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