Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 4

Results: 14
    1

    Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280
    By:
    • Levy, Tess;
    • Foss-Feig, Jennifer H;
    • Betancur, Catalina;
    • Siper, Paige M;
    • Trelles-Thorne, Maria del Pilar;
    • Halpern, Danielle;
    • Frank, Yitzchak;
    • Lozano, Reymundo;
    • Layton, Christina;
    • Britvan, Bari;
    • Bernstein, Jonathan A;
    • Buxbaum, Joseph D;
    • Berry-Kravis, Elizabeth;
    • Powell, Craig M;
    • Srivastava, Siddharth;
    • Sahin, Mustafa;
    • Soorya, Latha;
    • Thurm, Audrey;
    • Kolevzon, Alexander;
    • Consortium, the Developmental Synaptopathies
    Publication type:
    Article
    2
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    Methylome-wide association study of early life stressors and adult mental health.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 651, doi. 10.1093/hmg/ddab274
    By:
    • Howard, David M;
    • Pain, Oliver;
    • Arathimos, Ryan;
    • Barbu, Miruna C;
    • Amador, Carmen;
    • Walker, Rosie M;
    • Jermy, Bradley;
    • Adams, Mark J;
    • Deary, Ian J;
    • Porteous, David;
    • Campbell, Archie;
    • Sullivan, Patrick F;
    • Evans, Kathryn L;
    • Arseneault, Louise;
    • Wray, Naomi R;
    • Meaney, Michael;
    • McIntosh, Andrew M;
    • Lewis, Cathryn M
    Publication type:
    Article
    5
    6

    Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
    By:
    • Carpentieri, Giovanna;
    • Leoni, Chiara;
    • Pietraforte, Donatella;
    • Cecchetti, Serena;
    • Iorio, Egidio;
    • Belardo, Antonio;
    • Pietrucci, Daniele;
    • Nottia, Michela Di;
    • Pajalunga, Deborah;
    • Megiorni, Francesca;
    • Mercurio, Laura;
    • Tatti, Massimo;
    • Camero, Simona;
    • Marchese, Cinzia;
    • Rizza, Teresa;
    • Tirelli, Valentina;
    • Onesimo, Roberta;
    • Carrozzo, Rosalba;
    • Rinalducci, Sara;
    • Chillemi, Giovanni
    Publication type:
    Article
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    10

    Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
    By:
    • Sleiman, Sophie;
    • Marshall, Aren E;
    • Dong, Xiaomin;
    • Mhanni, Aziz;
    • Alidou-D'Anjou, Ismaël;
    • Frosk, Patrick;
    • Marin, Samantha E;
    • Stark, Zornitza;
    • Bigio, Marc R Del;
    • McBride, Arran;
    • Sadedin, Simon;
    • Gallacher, Lyndon;
    • Consortium, Care4Rare Canada;
    • Christodoulou, John;
    • Boycott, Kym M;
    • Dragon, François;
    • Kernohan, Kristin D
    Publication type:
    Article
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    14

    Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
    By:
    • Zheng, Wen-Qiang;
    • Pedersen, Signe Vandal;
    • Thompson, Kyle;
    • Bellacchio, Emanuele;
    • French, Courtney E;
    • Munro, Benjamin;
    • Pearson, Toni S;
    • Vogt, Julie;
    • Diodato, Daria;
    • Diemer, Tue;
    • Ernst, Anja;
    • Horvath, Rita;
    • Chitre, Manali;
    • Ek, Jakob;
    • Wibrand, Flemming;
    • Grange, Dorothy K;
    • Raymond, Lucy;
    • Zhou, Xiao-Long;
    • Taylor, Robert W;
    • Ostergaard, Elsebet
    Publication type:
    Article