Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 12

Results: 20
    1

    Cover, Volume 41, Issue 12.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. i, doi. 10.1002/humu.24142
    By:
    • Nagai‐Tanima, Momoko;
    • Hong, Sungkook;
    • Hu, Ping;
    • Carrington, Blake;
    • Sood, Raman;
    • Roessler, Erich;
    • Muenke, Maximilian
    Publication type:
    Article
    2
    3
    4

    Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
    By:
    • Piceci‐Sparascio, Francesca;
    • Palencia‐Campos, Adrian;
    • Soto‐Bielicka, Patricia;
    • D'Anzi, Angela;
    • Guida, Valentina;
    • Rosati, Jessica;
    • Caparros‐Martin, Jose A.;
    • Torrente, Isabella;
    • D'Asdia, M. Cecilia;
    • Versacci, Paolo;
    • Briuglia, Silvana;
    • Lapunzina, Pablo;
    • Tartaglia, Marco;
    • Marino, Bruno;
    • Digilio, M. Cristina;
    • Ruiz‐Perez, Victor L.;
    • De Luca, Alessandro
    Publication type:
    Article
    5
    6

    Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
    By:
    • Liu, Hui;
    • Giguet‐Valard, Anna‐Gaëlle;
    • Simonet, Thomas;
    • Szenker‐Ravi, Emmanuelle;
    • Lambert, Laetitia;
    • Vincent‐Delorme, Catherine;
    • Scheidecker, Sophie;
    • Fradin, Mélanie;
    • Morice‐Picard, Fanny;
    • Naudion, Sophie;
    • Ciorna‐Monferrato, Viorica;
    • Colin, Estelle;
    • Fellmann, Florence;
    • Blesson, Sophie;
    • Jouk, Pierre‐Simon;
    • Francannet, Christine;
    • Petit, Florence;
    • Moutton, Sébastien;
    • Lehalle, Daphné;
    • Chassaing, Nicolas
    Publication type:
    Article
    7
    8

    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2179, doi. 10.1002/humu.24127
    By:
    • Epting, Daniel;
    • Senaratne, Lokuliyange D. S.;
    • Ott, Elisabeth;
    • Holmgren, Asbjørn;
    • Sumathipala, Dulika;
    • Larsen, Selma M.;
    • Wallmeier, Julia;
    • Bracht, Diana;
    • Frikstad, Kari‐Anne M.;
    • Crowley, Suzanne;
    • Sikiric, Alma;
    • Barøy, Tuva;
    • Käsmann‐Kellner, Barbara;
    • Decker, Eva;
    • Decker, Christian;
    • Bachmann, Nadine;
    • Patzke, Sebastian;
    • Phelps, Ian G.;
    • Katsanis, Nicholas;
    • Giles, Rachel
    Publication type:
    Article
    9
    10

    Erratum.

    Published in:
    2020
    Publication type:
    Correction Notice
    11
    12
    13

    Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
    By:
    • Montenegro‐Garreaud, Ximena;
    • Hansen, Adam W.;
    • Khayat, Michael M.;
    • Chander, Varuna;
    • Grochowski, Christopher M.;
    • Jiang, Yunyun;
    • Li, He;
    • Mitani, Tadahiro;
    • Kessler, Elena;
    • Jayaseelan, Joy;
    • Shen, Hua;
    • Gezdirici, Alper;
    • Pehlivan, Davut;
    • Meng, Qingchang;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Madan‐Khetarpal, Suneeta;
    • Scott, Daryl A.;
    • Abarca‐Barriga, Hugo;
    • Trubnykova, Milana
    Publication type:
    Article
    14
    15
    16

    Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2128, doi. 10.1002/humu.24110
    By:
    • Vargas‐Parra, Gardenia;
    • Valle, Jesús;
    • Rofes, Paula;
    • Gausachs, Mireia;
    • Stradella, Agostina;
    • Moreno‐Cabrera, José M.;
    • Velasco, Angela;
    • Tornero, Eva;
    • Menéndez, Mireia;
    • Muñoz, Xavier;
    • Iglesias, Silvia;
    • López‐Doriga, Adriana;
    • Azuara, Daniel;
    • Campos, Olga;
    • Cuesta, Raquel;
    • Darder, Esther;
    • Cid, Rafael;
    • González, Sara;
    • Teulé, Alex;
    • Navarro, Matilde
    Publication type:
    Article
    17
    18

    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2028, doi. 10.1002/humu.24107
    By:
    • McCormick, Elizabeth M.;
    • Lott, Marie T.;
    • Dulik, Matthew C.;
    • Shen, Lishuang;
    • Attimonelli, Marcella;
    • Vitale, Ornella;
    • Karaa, Amel;
    • Bai, Renkui;
    • Pineda‐Alvarez, Daniel E.;
    • Singh, Larry N.;
    • Stanley, Christine M.;
    • Wong, Stacey;
    • Bhardwaj, Anshu;
    • Merkurjev, Daria;
    • Mao, Rong;
    • Sondheimer, Neal;
    • Zhang, Shiping;
    • Procaccio, Vincent;
    • Wallace, Douglas C.;
    • Gai, Xiaowu
    Publication type:
    Article
    19
    20

    Issue Information.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2017, doi. 10.1002/humu.23816
    Publication type:
    Article