Found: 9

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  • A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

    Published in:
    Genes, 2024, v. 15, n. 8, p. 1033, doi. 10.3390/genes15081033
    By:
    • Borroto, Maria Carla;
    • Michaud, Coralie;
    • Hudon, Chloé;
    • Agrawal, Pankaj B.;
    • Agre, Katherine;
    • Applegate, Carolyn D.;
    • Beggs, Alan H.;
    • Bjornsson, Hans T.;
    • Callewaert, Bert;
    • Chen, Mei-Jan;
    • Curry, Cynthia;
    • Devinsky, Orrin;
    • Dudding-Byth, Tracy;
    • Fagan, Kelly;
    • Finnila, Candice R.;
    • Gavrilova, Ralitza;
    • Genetti, Casie A.;
    • Hiatt, Susan M.;
    • Hildebrandt, Friedhelm;
    • Wojcik, Monica H.
    Publication type:
    Article

  • Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

    Published in:
    2019
    By:
    • Duc, Diana Le;
    • Giulivi, Cecilia;
    • Hiatt, Susan M;
    • Napoli, Eleonora;
    • Panoutsopoulos, Alexios;
    • Crescenzo, Angelo Harlan De;
    • Kotzaeridou, Urania;
    • Syrbe, Steffen;
    • Anagnostou, Evdokia;
    • Azage, Meron;
    • Bend, Renee;
    • Begtrup, Amber;
    • Brown, Natasha J;
    • Büttner, Benjamin;
    • Cho, Megan T;
    • Cooper, Gregory M;
    • Doering, Jan H;
    • Dubourg, Christèle;
    • Everman, David B;
    • Hildebrand, Michael S
    Publication type:
    journal article

  • De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
    By:
    • Hiatt, Susan M.;
    • Neu, Matthew B.;
    • Ramaker, Ryne C.;
    • Hardigan, Andrew A.;
    • Prokop, Jeremy W.;
    • Hancarova, Miroslava;
    • Prchalova, Darina;
    • Havlovicova, Marketa;
    • Prchal, Jan;
    • Stranecky, Viktor;
    • Yim, Dwight K. C.;
    • Powis, Zöe;
    • Keren, Boris;
    • Nava, Caroline;
    • Mignot, Cyril;
    • Rio, Marlene;
    • Revah-Politi, Anya;
    • Hemati, Parisa;
    • Stong, Nicholas;
    • Iglesias, Alejandro D.
    Publication type:
    Article

  • De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

    Published in:
    Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
    By:
    • Snijders Blok, Lot;
    • Hiatt, Susan M.;
    • Bowling, Kevin M.;
    • Prokop, Jeremy W.;
    • Engel, Krysta L.;
    • Cochran, J. Nicholas;
    • Bebin, E. Martina;
    • Bijlsma, Emilia K.;
    • Ruivenkamp, Claudia A. L.;
    • Terhal, Paulien;
    • Simon, Marleen E. H.;
    • Smith, Rosemarie;
    • Hurst, Jane A.;
    • The DDD study;
    • McLaughlin, Heather;
    • Person, Richard;
    • Crunk, Amy;
    • Wangler, Michael F.;
    • Streff, Haley;
    • Symonds, Joseph D.
    Publication type:
    Article

  • Current status and new features of the Consensus Coding Sequence database.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. D1, p. D865, doi. 10.1093/nar/gkt1059
    By:
    • Farrell, Catherine M.;
    • O’Leary, Nuala A.;
    • Harte, Rachel A.;
    • Loveland, Jane E.;
    • Wilming, Laurens G.;
    • Wallin, Craig;
    • Diekhans, Mark;
    • Barrell, Daniel;
    • Searle, Stephen M. J.;
    • Aken, Bronwen;
    • Hiatt, Susan M.;
    • Frankish, Adam;
    • Suner, Marie-Marthe;
    • Rajput, Bhanu;
    • Steward, Charles A.;
    • Brown, Garth R.;
    • Bennett, Ruth;
    • Murphy, Michael;
    • Wu, Wendy;
    • Kay, Mike P.
    Publication type:
    Article

  • RefSeq: an update on mammalian reference sequences.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. D1, p. D756, doi. 10.1093/nar/gkt1114
    By:
    • Pruitt, Kim D.;
    • Brown, Garth R.;
    • Hiatt, Susan M.;
    • Thibaud-Nissen, Françoise;
    • Astashyn, Alexander;
    • Ermolaeva, Olga;
    • Farrell, Catherine M.;
    • Hart, Jennifer;
    • Landrum, Melissa J.;
    • McGarvey, Kelly M.;
    • Murphy, Michael R.;
    • O’Leary, Nuala A.;
    • Pujar, Shashikant;
    • Rajput, Bhanu;
    • Rangwala, Sanjida H.;
    • Riddick, Lillian D.;
    • Shkeda, Andrei;
    • Sun, Hanzhen;
    • Tamez, Pamela;
    • Tully, Raymond E.
    Publication type:
    Article

  • Genomic diagnosis for children with intellectual disability and/or developmental delay.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0433-1
    By:
    • Bowling, Kevin M.;
    • Thompson, Michelle L.;
    • Amaral, Michelle D.;
    • Finnila, Candice R.;
    • Hiatt, Susan M.;
    • Engel, Krysta L.;
    • Cochran, J. Nicholas;
    • Brothers, Kyle B.;
    • East, Kelly M.;
    • Gray, David E.;
    • Kelley, Whitley V.;
    • Lamb, Neil E.;
    • Lose, Edward J.;
    • Rich, Carla A.;
    • Simmons, Shirley;
    • Whittle, Jana S.;
    • Weaver, Benjamin T.;
    • Nesmith, Amy S.;
    • Myers, Richard M.;
    • Barsh, Gregory S.
    Publication type:
    Article

  • Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

    Published in:
    Journal of Personalized Medicine, 2023, v. 13, n. 7, p. 1026, doi. 10.3390/jpm13071026
    By:
    • Lemke, Amy A.;
    • Thompson, Michelle L.;
    • Gimpel, Emily C.;
    • McNamara, Katelyn C.;
    • Rich, Carla A.;
    • Finnila, Candice R.;
    • Cochran, Meagan E.;
    • Lawlor, James M. J.;
    • East, Kelly M.;
    • Bowling, Kevin M.;
    • Latner, Donald R.;
    • Hiatt, Susan M.;
    • Amaral, Michelle D.;
    • Kelley, Whitley V.;
    • Greve, Veronica;
    • Gray, David E.;
    • Felker, Stephanie A.;
    • Meddaugh, Hannah;
    • Cannon, Ashley;
    • Luedecke, Amanda
    Publication type:
    Article

  • A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

    Published in:
    Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00388
    By:
    • Popov, Ivan K.;
    • Hiatt, Susan M.;
    • Whalen, Sandra;
    • Keren, Boris;
    • Ruivenkamp, Claudia;
    • van Haeringen, Arie;
    • Chen, Mei-Jan;
    • Cooper, Gregory M.;
    • Korf, Bruce R.;
    • Chang, Chenbei
    Publication type:
    Article