Works matching IS 09646906 AND DT 2022 AND VI 31

Results: 337
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    novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 24, p. 4255, doi. 10.1093/hmg/ddac170
    By:
    • Veneri, Francesca A;
    • Prada, Valeria;
    • Mastrangelo, Rosa;
    • Ferri, Cinzia;
    • Nobbio, Lucilla;
    • Passalacqua, Mario;
    • Milanesi, Maria;
    • Bianchi, Francesca;
    • Carro, Ubaldo Del;
    • Vallat, Jean-Michel;
    • Duong, Phu;
    • Svaren, John;
    • Schenone, Angelo;
    • Grandis, Marina;
    • D'Antonio, Maurizio
    Publication type:
    Article
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    De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 24, p. 4173, doi. 10.1093/hmg/ddac166
    By:
    • Suzuki, Hisato;
    • Li, Simo;
    • Tokutomi, Tomoharu;
    • Takeuchi, Chisen;
    • Takahashi, Miyuki;
    • Yamada, Mamiko;
    • Okuno, Hironobu;
    • Miya, Fuyuki;
    • Takenouchi, Toshiki;
    • Numabe, Hironao;
    • Kosaki, Kenjiro;
    • Ohshima, Toshio
    Publication type:
    Article
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    Clock genes rescue nphp mutations in zebrafish.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 24, p. 4143, doi. 10.1093/hmg/ddac160
    By:
    • Kayser, Nicolas;
    • Zaiser, Friedemann;
    • Veenstra, Anna C;
    • Wang, Hui;
    • Göcmen, Burulca;
    • Eckert, Priska;
    • Franz, Henriette;
    • Köttgen, Anna;
    • Walz, Gerd;
    • Yakulov, Toma A
    Publication type:
    Article
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    Natural history of KBG syndrome in a large European cohort.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
    By:
    • Loberti, Lorenzo;
    • Bruno, Lucia Pia;
    • Granata, Stefania;
    • Doddato, Gabriella;
    • Resciniti, Sara;
    • Fava, Francesca;
    • Carullo, Michele;
    • Rahikkala, Elisa;
    • Jouret, Guillaume;
    • Menke, Leonie A;
    • Lederer, Damien;
    • Vrielynck, Pascal;
    • Ryba, Lukáš;
    • Brunetti-Pierri, Nicola;
    • Lasa-Aranzasti, Amaia;
    • Cueto-González, Anna Maria;
    • Trujillano, Laura;
    • Valenzuela, Irene;
    • Tizzano, Eduardo F;
    • Spinelli, Alessandro Mauro
    Publication type:
    Article
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    Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 23, p. 3945, doi. 10.1093/hmg/ddac158
    By:
    • Degenhardt, Frauke;
    • Ellinghaus, David;
    • Juzenas, Simonas;
    • Lerga-Jaso, Jon;
    • Wendorff, Mareike;
    • Maya-Miles, Douglas;
    • Uellendahl-Werth, Florian;
    • ElAbd, Hesham;
    • Rühlemann, Malte C;
    • Arora, Jatin;
    • Özer, Onur;
    • Lenning, Ole Bernt;
    • Myhre, Ronny;
    • Vadla, May Sissel;
    • Wacker, Eike M;
    • Wienbrandt, Lars;
    • Ortiz, Aaron Blandino;
    • Salazar, Adolfo de;
    • Chercoles, Adolfo Garrido;
    • Palom, Adriana
    Publication type:
    Article
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    impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: a Mendelian randomization study.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 23, p. 4034, doi. 10.1093/hmg/ddac153
    By:
    • Borges, Maria-Carolina;
    • Haycock, Phillip;
    • Zheng, Jie;
    • Hemani, Gibran;
    • Howe, Laurence J;
    • Schmidt, A Floriaan;
    • Staley, James R;
    • Lumbers, R Thomas;
    • Henry, Albert;
    • Lemaitre, Rozenn N;
    • Gaunt, Tom R;
    • Holmes, Michael V;
    • Smith, George Davey;
    • Hingorani, Aroon D;
    • Lawlor, Deborah A
    Publication type:
    Article
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    Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 23, p. 4075, doi. 10.1093/hmg/ddac149
    By:
    • Franco, Melissa;
    • Pickett, Sarah J;
    • Fleischmann, Zoe;
    • Khrapko, Mark;
    • Cote-L'Heureux, Auden;
    • Aidlen, Dylan;
    • Stein, David;
    • Markuzon, Natasha;
    • Popadin, Konstantin;
    • Braverman, Maxim;
    • Woods, Dori C;
    • Tilly, Jonathan L;
    • Turnbull, Doug M;
    • Khrapko, Konstantin
    Publication type:
    Article
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    Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 23, p. 4087, doi. 10.1093/hmg/ddac145
    By:
    • Johnston, Jennifer J;
    • Dirksen, Robert T;
    • Girard, Thierry;
    • Hopkins, Phil M;
    • Kraeva, Natalia;
    • Ognoon, Mungunsukh;
    • Radenbaugh, K Bailey;
    • Riazi, Sheila;
    • Robinson, Rachel L;
    • Saddic, Louis A;
    • Sambuughin, Nyamkhishig;
    • Saxena, Richa;
    • Shepherd, Sarah;
    • Stowell, Kathryn;
    • Weber, James;
    • Yoo, Seeley;
    • Rosenberg, Henry;
    • Biesecker, Leslie G
    Publication type:
    Article
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    Polynesian-specific copy number variant encompassing the MICA gene associates with gout.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 21, p. 3757, doi. 10.1093/hmg/ddac094
    By:
    • Wang, Ke;
    • Cadzow, Murray;
    • Bixley, Matt;
    • Leask, Megan P;
    • Merriman, Marilyn E;
    • Yang, Qiangzhen;
    • Li, Zhiqiang;
    • Takei, Riku;
    • Phipps-Green, Amanda;
    • Major, Tanya J;
    • Topless, Ruth;
    • Dalbeth, Nicola;
    • King, Frances;
    • Murphy, Rinki;
    • Stamp, Lisa K;
    • Zoysa, Janak de;
    • Wang, Zhuo;
    • Shi, Yongyong;
    • Merriman, Tony R
    Publication type:
    Article
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    Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 21, p. 3715, doi. 10.1093/hmg/ddac121
    By:
    • Jefri, Malvin;
    • Zhang, Xin;
    • Stumpf, Patrick S;
    • Zhang, Li;
    • Peng, Huashan;
    • Hettige, Nuwan;
    • Theroux, Jean-Francois;
    • Aouabed, Zahia;
    • Wilson, Khadija;
    • Deshmukh, Shriya;
    • Antonyan, Lilit;
    • Ni, Anjie;
    • Alsuwaidi, Shaima;
    • Zhang, Ying;
    • Jabado, Nada;
    • Garcia, Benjamin A;
    • Schuppert, Andreas;
    • Bjornsson, Hans T;
    • Ernst, Carl
    Publication type:
    Article
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    RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 21, p. 3729, doi. 10.1093/hmg/ddac120
    By:
    • Paul, Franziska;
    • Ng, Calista;
    • Sahari, Umar Bin Mohamad;
    • Nafissi, Shahriar;
    • Nilipoor, Yalda;
    • Tavasoli, Ali Reza;
    • Bonnard, Carine;
    • Wong, Pui-Mun;
    • Nabavizadeh, Nasrinsadat;
    • Altunoğlu, Umut;
    • Estiar, Mehrdad A;
    • Majoie, Charles B;
    • Lee, Hane;
    • Nelson, Stanley F;
    • Gan-Or, Ziv;
    • Rouleau, Guy A;
    • Veldhoven, Paul P Van;
    • Massie, Rami;
    • Hennekam, Raoul C;
    • Kariminejad, Ariana
    Publication type:
    Article
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    Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 21, p. 3597, doi. 10.1093/hmg/ddac040
    By:
    • Lee, Richard G;
    • Balasubramaniam, Shanti;
    • Stentenbach, Maike;
    • Kralj, Tom;
    • McCubbin, Tim;
    • Padman, Benjamin;
    • Smith, Janine;
    • Riley, Lisa G;
    • Priyadarshi, Archana;
    • Peng, Liuyu;
    • Nuske, Madison R;
    • Webster, Richard;
    • Peacock, Ken;
    • Roberts, Philip;
    • Stark, Zornitza;
    • Lemire, Gabrielle;
    • Ito, Yoko A;
    • Consortium, Care4Rare Canada;
    • Boycott, Kym M;
    • Geraghty, Michael T
    Publication type:
    Article