Works by Majewski, Jacek

Results: 165
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    Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

    Published in:
    Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0479-8
    By:
    • Salloum, Ralph;
    • McConechy, Melissa K.;
    • Mikael, Leonie G.;
    • Fuller, Christine;
    • Drissi, Rachid;
    • DeWire, Mariko;
    • Nikbakht, Hamid;
    • De Jay, Nicolas;
    • Xiaodan Yang;
    • Boue, Daniel;
    • Chow, Lionel M. L.;
    • Finlay, Jonathan L.;
    • Gayden, Tenzin;
    • Karamchandani, Jason;
    • Hummel, Trent R.;
    • Olshefski, Randal;
    • Osorio, Diana S.;
    • Stevenson, Charles;
    • Kleinman, Claudia L.;
    • Majewski, Jacek
    Publication type:
    Article
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    Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations.

    Published in:
    JAMA Ophthalmology, 2014, v. 132, n. 12, p. 1393, doi. 10.1001/jamaophthalmol.2014.2814
    By:
    • Robitaille, Johane M.;
    • Gillett, Roxanne M.;
    • LeBlanc, Marissa A.;
    • Gaston, Daniel;
    • Nightingale, Mathew;
    • Mackley, Michael P.;
    • Parkash, Sandhya;
    • Hathaway, Julie;
    • Thomas, Aidan;
    • Ells, Anna;
    • Traboulsi, Elias I.;
    • Héon, Elise;
    • Roy, Mélanie;
    • Shalev, Stavit;
    • Fernandez, Conrad V.;
    • MacGillivray, Christine;
    • Wallace, Karin;
    • Fahiminiya, Somayyeh;
    • Majewski, Jacek;
    • McMaster, Christopher R.
    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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    H2A.Z histone variants facilitate HDACidependent removal of H3.3K27M mutant protein in paediatric high-grade glioma cells.

    Published in:
    Folia Neuropathologica, 2023, v. 61, n. 4, p. 457
    By:
    • Leszczynska, Katarzyna B.;
    • Pereira de Freitas, Amanda;
    • Jayaprakash, Chinchu;
    • Dzwigonska, Monika;
    • Vitorino, Francisca N. L.;
    • Horth, Cynthia;
    • Wojnicki, Kamil;
    • Gielniewski, Bartlomiej;
    • Szadkowska, Paulina;
    • Kaza, Beata;
    • Nazarian, Javad;
    • Ciolkowski, Maciej K.;
    • Trubicka, Joanna;
    • Grajkowska, Wieslawa;
    • Garcia, Benjamin A.;
    • Majewski, Jacek;
    • Kaminska, Bozena;
    • Mieczkowski, Jakub
    Publication type:
    Article
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    Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
    By:
    • Johnstone, Devon L.;
    • Nguyen, Thi Tuyet Mai;
    • Zambonin, Jessica;
    • Kernohan, Kristin D.;
    • St‐Denis, Anik;
    • Baratang, Nissan V.;
    • Hartley, Taila;
    • Geraghty, Michael T.;
    • Richer, Julie;
    • Majewski, Jacek;
    • Bareke, Eric;
    • Guerin, Andrea;
    • Pendziwiat, Manuela;
    • Pena, Loren D. M.;
    • Braakman, Hilde M. H.;
    • Gripp, Karen W.;
    • Edmondson, Andrew C.;
    • He, Miao;
    • Spillmann, Rebecca C.;
    • Eklund, Erik A.
    Publication type:
    Article
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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
    14

    Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.

    Published in:
    Acta Neuropathologica, 2018, v. 136, n. 4, p. 657, doi. 10.1007/s00401-018-1898-8
    By:
    • Queiroz, Rosane Gomes;
    • Suazo, Veridiana Kiill;
    • Scrideli, Carlos Alberto;
    • Tone, Luiz Gonzaga;
    • Valera, Elvis Terci;
    • Yum, Mi-Sun;
    • Ko, Tae-Sung;
    • de Oliveira, Ricardo Santos;
    • Machado, Helio Rubens;
    • Brassesco, María Sol;
    • do Santos, Antonio Carlos;
    • Simão, Gustavo Novelino;
    • Ramalho, Leandra Náira Zambelli;
    • Neder, Luciano;
    • McConechy, Melissa K.;
    • Rivera, Barbara;
    • Han, HyeRim;
    • Jabado, Nada;
    • Majewski, Jacek;
    • Gayden, Tenzin
    Publication type:
    Article
    15

    Prognostic and predictive value of circulating tumor DNA during neoadjuvant chemotherapy for triple negative breast cancer.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71236-y
    By:
    • Cavallone, Luca;
    • Aguilar-Mahecha, Adriana;
    • Lafleur, Josiane;
    • Brousse, Susie;
    • Aldamry, Mohammed;
    • Roseshter, Talia;
    • Lan, Cathy;
    • Alirezaie, Najmeh;
    • Bareke, Eric;
    • Majewski, Jacek;
    • Ferrario, Cristiano;
    • Hassan, Saima;
    • Discepola, Federico;
    • Seguin, Carole;
    • Mihalcioiu, Catalin;
    • Marcus, Elizabeth A.;
    • Robidoux, André;
    • Roy, Josée-Anne;
    • Pelmus, Manuela;
    • Basik, Mark
    Publication type:
    Article
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    A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8
    By:
    • Evans, Daniel R.;
    • Green, Jane S.;
    • Fahiminiya, Somayyeh;
    • Majewski, Jacek;
    • Fernandez, Bridget A.;
    • Deardorff, Matthew A.;
    • Johnson, Gordon J.;
    • Whelan, James H.;
    • Hubmacher, Dirk;
    • Apte, Suneel S.;
    • Care4Rare Canada Consortium;
    • Boycott, Kym;
    • Bulman, Dennis;
    • Dyment, David;
    • McKenzie, Alex;
    • Brudno, Michael;
    • Woods, Michael O.
    Publication type:
    Article
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    Familial rhabdoid tumour ' avant la lettre'-from pathology review to exome sequencing and back again.

    Published in:
    Journal of Pathology, 2013, v. 231, n. 1, p. 35, doi. 10.1002/path.4225
    By:
    • Witkowski, Leora;
    • Lalonde, Emilie;
    • Zhang, Jian;
    • Albrecht, Steffen;
    • Hamel, Nancy;
    • Cavallone, Luca;
    • May, Sandra Thompson;
    • Nicholson, James C;
    • Coleman, Nicholas;
    • Murray, Matthew J;
    • Tauber, Peter F;
    • Huntsman, David G;
    • Schönberger, Stefan;
    • Yandell, David;
    • Hasselblatt, Martin;
    • Tischkowitz, Marc D;
    • Majewski, Jacek;
    • Foulkes, William D
    Publication type:
    Article
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    Clonal selection drives genetic divergence of metastatic medulloblastoma.

    Published in:
    Nature, 2012, v. 482, n. 7386, p. 529, doi. 10.1038/nature10825
    By:
    • Wu, Xiaochong;
    • Northcott, Paul A.;
    • Dubuc, Adrian;
    • Dupuy, Adam J.;
    • Shih, David J. H.;
    • Witt, Hendrik;
    • Croul, Sidney;
    • Bouffet, Eric;
    • Fults, Daniel W.;
    • Eberhart, Charles G.;
    • Garzia, Livia;
    • Van Meter, Timothy;
    • Zagzag, David;
    • Jabado, Nada;
    • Schwartzentruber, Jeremy;
    • Majewski, Jacek;
    • Scheetz, Todd E.;
    • Pfister, Stefan M.;
    • Korshunov, Andrey;
    • Li, Xiao-Nan
    Publication type:
    Article
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    Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

    Published in:
    EMBO Reports, 2014, v. 15, n. 7, p. 766, doi. 10.15252/embr.201438840
    By:
    • Kahle, Kristopher T;
    • Merner, Nancy D;
    • Friedel, Perrine;
    • Silayeva, Liliya;
    • Liang, Bo;
    • Khanna, Arjun;
    • Shang, Yuze;
    • Lachance‐Touchette, Pamela;
    • Bourassa, Cynthia;
    • Levert, Annie;
    • Dion, Patrick A;
    • Walcott, Brian;
    • Spiegelman, Dan;
    • Dionne‐Laporte, Alexandre;
    • Hodgkinson, Alan;
    • Awadalla, Philip;
    • Nikbakht, Hamid;
    • Majewski, Jacek;
    • Cossette, Patrick;
    • Deeb, Tarek Z
    Publication type:
    Article
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    A novel rearrangement of occludin causes brain calcification and renal dysfunction.

    Published in:
    Human Genetics, 2013, v. 132, n. 11, p. 1223, doi. 10.1007/s00439-013-1327-y
    By:
    • LeBlanc, Marissa;
    • Penney, Lynette;
    • Gaston, Daniel;
    • Shi, Yuhao;
    • Aberg, Erika;
    • Nightingale, Mathew;
    • Jiang, Haiyan;
    • Gillett, Roxanne;
    • Fahiminiya, Somayyeh;
    • Macgillivray, Christine;
    • Wood, Ellen;
    • Acott, Philip;
    • Khan, M.;
    • Samuels, Mark;
    • Majewski, Jacek;
    • Orr, Andrew;
    • McMaster, Christopher;
    • Bedard, Karen
    Publication type:
    Article
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    Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 4, p. 368, doi. 10.1093/hmg/ddae182
    By:
    • Sentell, Zachary T;
    • Mougharbel, Lina;
    • Nurcombe, Zachary W;
    • Babayeva, Sima;
    • Henein, Marc;
    • Chu, Lee Lee;
    • Akpa, Murielle M;
    • Chung, Chen-Fang;
    • Rivière, Jean-Baptiste;
    • Pupavac, Mihaela;
    • Li, Rui;
    • Rosenblatt, David S;
    • Majewski, Jacek;
    • Goodyer, Paul R;
    • Torban, Elena;
    • Kitzler, Thomas M
    Publication type:
    Article
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    Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.

    Published in:
    Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
    By:
    • Oussalah, Abderrahim;
    • Siblini, Youssef;
    • Hergalant, Sébastien;
    • Chéry, Céline;
    • Rouyer, Pierre;
    • Cavicchi, Catia;
    • Guerrini, Renzo;
    • Morange, Pierre-Emmanuel;
    • Trégouët, David;
    • Pupavac, Mihaela;
    • Watkins, David;
    • Pastinen, Tomi;
    • Chung, Wendy K.;
    • Ficicioglu, Can;
    • Feillet, François;
    • Froese, D. Sean;
    • Baumgartner, Matthias R.;
    • Benoist, Jean-François;
    • Majewski, Jacek;
    • Morrone, Amelia
    Publication type:
    Article
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    A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.

    Published in:
    PLoS Genetics, 2019, v. 15, n. 8, p. 1, doi. 10.1371/journal.pgen.1008344
    By:
    • Wong, Cavin;
    • Chen, Fei;
    • Alirezaie, Najmeh;
    • Wang, Yifan;
    • Cuggia, Adeline;
    • Borgida, Ayelet;
    • Holter, Spring;
    • Lenko, Tatiana;
    • Domecq, Celine;
    • null, null;
    • Petersen, Gloria M.;
    • Syngal, Sapna;
    • Brand, Randall;
    • Rustgi, Anil K.;
    • Cote, Michele L.;
    • Stoffel, Elena;
    • Olson, Sara H.;
    • Roberts, Nicholas J.;
    • Akbari, Mohammad R.;
    • Majewski, Jacek
    Publication type:
    Article
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    Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge.

    Published in:
    Nature Reviews Cancer, 2014, v. 14, n. 2, p. 92, doi. 10.1038/nrc3655
    By:
    • Sturm, Dominik;
    • Bender, Sebastian;
    • Jones, David T. W.;
    • Lichter, Peter;
    • Grill, Jacques;
    • Becher, Oren;
    • Hawkins, Cynthia;
    • Majewski, Jacek;
    • Jones, Chris;
    • Costello, Joseph F.;
    • Iavarone, Antonio;
    • Aldape, Kenneth;
    • Brennan, Cameron W.;
    • Jabado, Nada;
    • Pfister, Stefan M.
    Publication type:
    Article
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    Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

    Published in:
    Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y
    By:
    • Tetreault, Martine;
    • Fahiminiya, Somayyeh;
    • Antonicka, Hana;
    • Mitchell, Grant;
    • Geraghty, Michael;
    • Lines, Matthew;
    • Boycott, Kym;
    • Shoubridge, Eric;
    • Mitchell, John;
    • Michaud, Jacques;
    • Majewski, Jacek
    Publication type:
    Article
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    TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06690-4
    By:
    • Gomes, Carolina Cavalieri;
    • Gayden, Tenzin;
    • Bajic, Andrea;
    • Harraz, Osama F.;
    • Pratt, Jonathan;
    • Nikbakht, Hamid;
    • Bareke, Eric;
    • Diniz, Marina Gonçalves;
    • Castro, Wagner Henriques;
    • St-Onge, Pascal;
    • Sinnett, Daniel;
    • Han, HyeRim;
    • Rivera, Barbara;
    • Mikael, Leonie G.;
    • De Jay, Nicolas;
    • Kleinman, Claudia L.;
    • Valera, Elvis Terci;
    • Bassenden, Angelia V.;
    • Berghuis, Albert M.;
    • Majewski, Jacek
    Publication type:
    Article
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    From the Authors.

    Published in:
    Cardiology Journal, 2007, v. 14, n. 3, p. 320
    By:
    • Lelakowski, Jacek;
    • Majewski, Jacek;
    • Bednarek, Jacek;
    • Małecka, Barbara;
    • Ząbek, Andrzej
    Publication type:
    Article
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    Whole‐exome sequencing reveals novel vacuolar ATPase genes' variants and variants in genes involved in lysosomal biology and autophagosomal formation in oral granular cell tumors.

    Published in:
    Journal of Oral Pathology & Medicine, 2021, v. 50, n. 4, p. 410, doi. 10.1111/jop.13148
    By:
    • França, Josiane Alves;
    • Gayden, Tenzin;
    • Bareke, Eric;
    • Santos, Jean Nunes;
    • Sousa, Sílvia Ferreira;
    • Bastos‐Rodrigues, Luciana;
    • Majewski, Jacek;
    • Jabado, Nada;
    • Gomez, Ricardo Santiago;
    • Gomes, Carolina Cavalieri
    Publication type:
    Article
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    POLR3A variants in hereditary spastic paraplegia and ataxia.

    Published in:
    2018
    By:
    • Gauquelin, Laurence;
    • Tétreault, Martine;
    • Thiffault, Isabelle;
    • Farrow, Emily;
    • Miller, Neil;
    • Yoo, Byunggil;
    • Bareke, Eric;
    • Yoon, Grace;
    • Suchowersky, Oksana;
    • Dupré, Nicolas;
    • Tarnopolsky, Mark;
    • Brais, Bernard;
    • Wolf, Nicole I.;
    • Majewski, Jacek;
    • Rouleau, Guy A.;
    • Gan-Or, Ziv;
    • Bernard, Geneviève
    Publication type:
    Letter