Works by Majewski, Jacek

Results: 165
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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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    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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    Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
    By:
    • Hautakangas, Milla‐Riikka;
    • Widgren, Paula;
    • Korpelainen, Paavo;
    • Kangas, Salla M.;
    • Komulainen, Tuomas;
    • Vieira, Päivi;
    • Rahikkala, Elisa;
    • Pylkäs, Katri;
    • Tuominen, Hannu;
    • Kokkonen, Hannaleena;
    • Miinalainen, Ilkka;
    • Nadaf, Javad;
    • Majewski, Jacek;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
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    Featured Cover.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 6, p. 1, doi. 10.1111/cge.13971
    By:
    • Rezaei, Maryam;
    • Suresh, Beena;
    • Bereke, Eric;
    • Hadipour, Zahra;
    • Aguinaga, Monic;
    • Qian, Jianhua;
    • Bagga, Rashmi;
    • Fardaei, Majid;
    • Hemida, Reda;
    • Jagadeesh, Sujatha;
    • Majewski, Jacek;
    • Slim, Rima
    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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    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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    Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data.

    Published in:
    BMC Cancer, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12885-022-10359-z
    By:
    • Zwaig, Melissa;
    • Baguette, Audrey;
    • Hu, Bo;
    • Johnston, Michael;
    • Lakkis, Hussein;
    • Nakada, Emily M.;
    • Faury, Damien;
    • Juretic, Nikoleta;
    • Ellezam, Benjamin;
    • Weil, Alexandre G.;
    • Karamchandani, Jason;
    • Majewski, Jacek;
    • Blanchette, Mathieu;
    • Taylor, Michael D.;
    • Gallo, Marco;
    • Kleinman, Claudia L.;
    • Jabado, Nada;
    • Ragoussis, Jiannis
    Publication type:
    Article
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    Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004669
    By:
    • Gaston, Daniel;
    • Hansford, Samantha;
    • Oliveira, Carla;
    • Nightingale, Mathew;
    • Pinheiro, Hugo;
    • Macgillivray, Christine;
    • Kaurah, Pardeep;
    • Rideout, Andrea L.;
    • Steele, Patricia;
    • Soares, Gabriela;
    • Huang, Weei-Yuarn;
    • Whitehouse, Scott;
    • Blowers, Sarah;
    • LeBlanc, Marissa A.;
    • Jiang, Haiyan;
    • Greer, Wenda;
    • Samuels, Mark E.;
    • Orr, Andrew;
    • Fernandez, Conrad V.;
    • Majewski, Jacek
    Publication type:
    Article
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    Tissue Effect on Genetic Control of Transcript Isoform Variation.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000608
    By:
    • Kwan, Tony;
    • Grundberg, Elin;
    • Koka, Vonda;
    • Bing Ge;
    • Lam, Kevin C. L.;
    • Dias, Christel;
    • Kindmark, Andreas;
    • Mallmin, Hans;
    • Ljunggren, Östen;
    • Rivadeneira, Fernando;
    • Estrada, Karol;
    • van Meurs, Joyce B.;
    • Uitterlinden, Andre;
    • Karlsson, Magnus;
    • Ohlsson, Claes;
    • Mellström, Dan;
    • Nilsson, Olle;
    • Pastinen, Tomi;
    • Majewski, Jacek
    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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    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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    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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    Meta-analysis of genome scans of age-related macular degeneration.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. 15, p. 2257, doi. 10.1093/hmg/ddi230
    By:
    • Fisher, Sheila A.;
    • Abecasis, Goncalo R.;
    • Yashar, Beverly M.;
    • Zareparsi, Sepideh;
    • Swaroop, Anand;
    • Iyengar, Sudha K.;
    • Klein, Barbara E.K.;
    • Klein, Ronald;
    • Lee, Kristine E.;
    • Majewski, Jacek;
    • Schultz, Dennis W.;
    • Klein, Michael L.;
    • Seddon, Johanna M.;
    • Santangelo, Susan L.;
    • Weeks, Daniel E.;
    • Conley, Yvette P.;
    • Mah, Tammy S.;
    • Schmidt, Silke;
    • Haines, Jonathan L.;
    • Pericak-Vance, Margaret A.
    Publication type:
    Article
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    Intron Loss and Gain in Drosophila.

    Published in:
    Molecular Biology & Evolution, 2007, v. 24, n. 12, p. 2842, doi. 10.1093/molbev/msm235
    By:
    • Coulombe-Huntington, Jasmin;
    • Majewski, Jacek
    Publication type:
    Article
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