Works matching IS 15524825 AND DT 2024 AND VI 194 AND IP 5

Results: 36
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    Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63542
    By:
    • Farris, Joseph;
    • Khanna, Cheryl;
    • Smadbeck, James B.;
    • Johnson, Sarah H.;
    • Bothun, Erick;
    • Kaplan, Tyler;
    • Hoffman, Francis;
    • Polonis, Katarzyna;
    • Oliver, Gavin;
    • Reis, Linda M.;
    • Semina, Elena V.;
    • Rust, Laura;
    • Hoppman, Nicole L.;
    • Vasmatzis, George;
    • Marcou, Cherisse A.;
    • Schimmenti, Lisa A.;
    • Klee, Eric W.
    Publication type:
    Article
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    Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63530
    By:
    • Lo, Emma;
    • Blair, Justin;
    • Yamamoto, Nobuko;
    • Diaz‐Miranda, Maria Alejandra;
    • Bedoukian, Emma;
    • Gray, Christopher;
    • Lawrence, Audrey;
    • Dedhia, Kavita;
    • Elden, Lisa M.;
    • Germiller, John A.;
    • Kazahaya, Ken;
    • Sobol, Steven E.;
    • Luo, Minjie;
    • Krantz, Ian D.;
    • Hartman, Tiffiney R.
    Publication type:
    Article
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    Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63524
    By:
    • Santoro, Jonathan D.;
    • Jafarpour, Saba;
    • Khoshnood, Mellad M.;
    • Boyd, Natalie K.;
    • Vogel, Benjamin N.;
    • Nguyen, Lina;
    • Saucier, Laura E.;
    • Partridge, Rebecca;
    • Tiongson, Emmanuelle;
    • Ramos‐Platt, Leigh;
    • Nagesh, Deepti;
    • Ho, Eugenia;
    • Rosser, Tena;
    • Ahsan, Nusrat;
    • Mitchell, Wendy G.;
    • Rafii, Michael S.
    Publication type:
    Article
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    Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
    By:
    • Del Gobbo, Giulia F.;
    • Wang, Xueqi;
    • Couse, Madeline;
    • Mackay, Layla;
    • Goldsmith, Claire;
    • Marshall, Aren E.;
    • Liang, Yijing;
    • Lambert, Christine;
    • Zhang, Siyuan;
    • Dhillon, Harsharan;
    • Fanslow, Cairbre;
    • Rowell, William J.;
    • Marshall, Christian R.;
    • Kernohan, Kristin D.;
    • Boycott, Kym M.
    Publication type:
    Article
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    Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63517
    By:
    • De Falco, Alessandro;
    • Karali, Marianthi;
    • Criscuolo, Chiara;
    • Testa, Francesco;
    • Barillari, Maria Rosaria;
    • Scarpato, Margherita;
    • Gaudieri, Valeria;
    • Cuocolo, Alberto;
    • Russo, Anna;
    • Nigro, Vincenzo;
    • Simonelli, Francesca;
    • Banfi, Sandro;
    • Brunetti‐Pierri, Nicola
    Publication type:
    Article
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    Double somatic mosaicism in Cornelia de Lange syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63512
    By:
    • Pezzani, Lidia;
    • Pezzoli, Laura;
    • Rosina, Erica;
    • Scatigno, Agnese;
    • Cereda, Anna;
    • Lucca, Camilla;
    • Bellini, Matteo;
    • Marchetti, Daniela;
    • Maino, Marzia;
    • Mangili, Giovanna;
    • Selicorni, Angelo;
    • Iascone, Maria
    Publication type:
    Article
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    Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63505
    By:
    • Jackson, Suellen;
    • Freeman, Rebecca;
    • Noronha, Adriana;
    • Jamil, Hafsah;
    • Chavez, Eric;
    • Carmichael, Jason;
    • Ruiz, Kaylee M.;
    • Miller, Christine;
    • Benke, Sarah;
    • Perrot, Rosalie;
    • Hockley, Maryam;
    • Murphy, Kady;
    • Casillan, Aimiel;
    • Radanovich, Lily;
    • Deforest, Roger;
    • Nunes, Mark E.;
    • Galarreta‐Aima, Carolina;
    • Sidlow, Richard;
    • Einhorn, Yaron;
    • Woods, Jeremy
    Publication type:
    Article
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    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63270
    Publication type:
    Article
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