Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 4

Results: 42
    1
    2

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 618, doi. 10.1002/ajmg.a.61526
    Publication type:
    Article
    3
    4
    5

    Grandparental genotyping enhances exome variant interpretation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 689, doi. 10.1002/ajmg.a.61511
    By:
    • Daum, Hagit;
    • Mor‐Shaked, Hagar;
    • Ta‐Shma, Asaf;
    • Shaag, Avraham;
    • Silverstein, Shira;
    • Shohat, Mordechai;
    • Elpeleg, Orly;
    • Meiner, Vardiella;
    • Harel, Tamar
    Publication type:
    Article
    6

    MECP2 duplication syndrome in a patient from Cameroon.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 619, doi. 10.1002/ajmg.a.61510
    By:
    • Tekendo‐Ngongang, Cedrik;
    • Dahoun, Sophie;
    • Nguefack, Séraphin;
    • Moix, Isabelle;
    • Gimelli, Stefania;
    • Zambo, Huguette;
    • Morris, Michael A.;
    • Sloan‐Béna, Frédérique;
    • Wonkam, Ambroise
    Publication type:
    Article
    7
    8
    9

    A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 780, doi. 10.1002/ajmg.a.61498
    By:
    • D'Gama, Alissa M.;
    • Brucker, William J.;
    • Zhang, Tian;
    • Gubbels, Cynthia S.;
    • Ferdinandusse, Sacha;
    • Shi, Jiahai;
    • Grant, Patricia Ellen;
    • VanNoy, Grace;
    • Genetti, Casie A.;
    • Juusola, Jane;
    • Yu, Timothy W.;
    • Kritzer, Amy;
    • Agrawal, Pankaj B.
    Publication type:
    Article
    10
    11
    12
    13
    14
    15
    16
    17

    Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 746, doi. 10.1002/ajmg.a.61490
    By:
    • Sheppard, Sarah E.;
    • Smith, Anna;
    • Grand, Katheryn;
    • Pogoriler, Jennifer;
    • Rubin, Adam I.;
    • Schindewolf, Erica;
    • Fitzgerald, Mark P.;
    • Moldenhauer, Julie;
    • Laje, Pablo;
    • Peranteau, William;
    • Bhoj, Elizabeth;
    • McMahon, Patrick;
    • Castelo‐Soccio, Leslie
    Publication type:
    Article
    18
    19
    20
    21
    22

    Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485
    By:
    • Gross, Andrea M.;
    • Frone, Megan;
    • Gripp, Karen W.;
    • Gelb, Bruce D.;
    • Schoyer, Lisa;
    • Schill, Lisa;
    • Stronach, Beth;
    • Biesecker, Leslie G.;
    • Esposito, Dominic;
    • Hernandez, Edjay Ralph;
    • Legius, Eric;
    • Loh, Mignon L.;
    • Martin, Staci;
    • Morrison, Deborah K.;
    • Rauen, Katherine A.;
    • Wolters, Pamela L.;
    • Zand, Dina;
    • McCormick, Frank;
    • Savage, Sharon A.;
    • Stewart, Douglas R.
    Publication type:
    Article
    23

    Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 713, doi. 10.1002/ajmg.a.61483
    By:
    • Kanani, Farah;
    • Titheradge, Hannah;
    • Cooper, Nicola;
    • Elmslie, Frances;
    • Lees, Melissa M.;
    • Juusola, Jane;
    • Pisani, Laura;
    • McKenna, Carolyn;
    • Mignot, Cyril;
    • Valence, Stephanie;
    • Keren, Boris;
    • Lachlan, Katherine;
    • Balasubramanian, Meena
    Publication type:
    Article
    24
    25
    26
    27
    28
    29
    30
    31

    Tatton‐Brown‐Rahman syndrome: Six individuals with novel features.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 673, doi. 10.1002/ajmg.a.61475
    By:
    • Balci, Tugce B.;
    • Strong, Alana;
    • Kalish, Jennifer M.;
    • Zackai, Elaine;
    • Maris, John M.;
    • Reilly, Anne;
    • Surrey, Lea F.;
    • Wertheim, Gerald B.;
    • Marcadier, Julien L.;
    • Graham, Gail E.;
    • Carter, Melissa T.
    Publication type:
    Article
    32
    33
    34
    35
    36

    Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
    By:
    • Sewani, Maham;
    • Nugent, Kimberly;
    • Blackburn, Patrick R.;
    • Tarnowski, Jessica M.;
    • Hernandez‐Garcia, Andres;
    • Amiel, Jeanne;
    • Whalen, Sandra;
    • Keren, Boris;
    • Courtin, Thomas;
    • Rosenfeld, Jill A.;
    • Yang, Yaping;
    • Patterson, Marc C.;
    • Pichurin, Pavel;
    • McLean, Scott D.;
    • Scott, Daryl A.
    Publication type:
    Article
    37
    38

    Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 697, doi. 10.1002/ajmg.a.61464
    By:
    • Machol, Keren;
    • Hadley, Trevor D.;
    • Schmidt, Jake;
    • Cuthbertson, David;
    • Traboulsi, Henri;
    • Silva, Rodrigo C.;
    • Citron, Chloe;
    • Khan, Sobiah;
    • Citron, Kate;
    • Carter, Erin;
    • Brookler, Kenneth;
    • Shapiro, Jay R.;
    • Steiner, Robert D.;
    • Byers, Peter H.;
    • Glorieux, Francis H.;
    • Durigova, Michaela;
    • Smith, Peter;
    • Bober, Michael B.;
    • Sutton, Vernon R.;
    • Lee, Brendan H.
    Publication type:
    Article
    39
    40
    41

    Publication schedule for 2020.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 614, doi. 10.1002/ajmg.a.61228
    Publication type:
    Article
    42