Works matching AU Gelb, Bruce D.

Results: 87
    1

    Genome‐Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.

    Published in:
    Genetic Epidemiology, 2025, v. 49, n. 4, p. 1, doi. 10.1002/gepi.70010
    By:
    • Feldman, Elizabeth R.;
    • Li, Yunqi;
    • Cutler, David J.;
    • Rosser, Tracie C.;
    • Wechsler, Stephanie B.;
    • Sanclemente, Lauren;
    • Rachubinski, Angela L.;
    • Elliott, Natalina;
    • Vyas, Paresh;
    • Roberts, Irene;
    • Rabin, Karen R.;
    • Wagner, Michael;
    • Gelb, Bruce D.;
    • Espinosa, Joaquin M.;
    • Lupo, Philip J.;
    • de Smith, Adam J.;
    • Sherman, Stephanie L.;
    • Leslie‐Clarkson, Elizabeth J.
    Publication type:
    Article
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    Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

    Published in:
    Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
    By:
    • Manheimer, Kathryn B.;
    • Patel, Nihir;
    • Richter, Felix;
    • Gorham, Joshua;
    • Tai, Angela C.;
    • Homsy, Jason;
    • Boskovski, Marko T.;
    • Parfenov, Michael;
    • Goldmuntz, Elizabeth;
    • Chung, Wendy K.;
    • Brueckner, Martina;
    • Tristani-Firouzi, Martin;
    • Srivastava, Deepak;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.
    Publication type:
    Article
    5

    Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

    Published in:
    Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809
    By:
    • Martinelli, Simone;
    • Stellacci, Emilia;
    • Pannone, Luca;
    • D'Agostino, Daniela;
    • Consoli, Federica;
    • Lissewski, Christina;
    • Silvano, Marianna;
    • Cencelli, Giulia;
    • Lepri, Francesca;
    • Maitz, Silvia;
    • Pauli, Silke;
    • Rauch, Anita;
    • Zampino, Giuseppe;
    • Selicorni, Angelo;
    • Melançon, Serge;
    • Digilio, Maria C.;
    • Gelb, Bruce D.;
    • Luca, Alessandro;
    • Dallapiccola, Bruno;
    • Zenker, Martin
    Publication type:
    Article
    6

    Jagged1 ( JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis.

    Published in:
    Human Mutation, 2010, v. 31, n. 5, p. 594, doi. 10.1002/humu.21231
    By:
    • Bauer, Robert C.;
    • Laney, Ayanna O.;
    • Smith, Rosemarie;
    • Gerfen, Jennifer;
    • Morrissette, Jennifer J.D.;
    • Woyciechowski, Stacy;
    • Garbarini, Jennifer;
    • Loomes, Kathleen M.;
    • Krantz, Ian D.;
    • Urban, Zsolt;
    • Gelb, Bruce D.;
    • Goldmuntz, Elizabeth;
    • Spinner, Nancy B.
    Publication type:
    Article
    7

    Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431
    By:
    • Zampino, Giuseppe;
    • Pantaleoni, Francesca;
    • Carta, Claudio;
    • Cobellis, Gilda;
    • Vasta, Isabella;
    • Neri, Cinzia;
    • Pogna, Edgar A.;
    • De Feo, Emma;
    • Delogu, Angelica;
    • Sarkozy, Anna;
    • Atzeri, Francesca;
    • Selicorni, Angelo;
    • Rauen, Katherine A.;
    • Cytrynbaum, Cheryl S.;
    • Weksberg, Rosanna;
    • Dallapiccola, Bruno;
    • Ballabio, Andrea;
    • Gelb, Bruce D.;
    • Neri, Giovanni;
    • Tartaglia, Marco
    Publication type:
    Article
    8

    Association of genetic and sulcal traits with executive function in congenital heart disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 278, doi. 10.1002/acn3.51950
    By:
    • Maleyeff, Lara;
    • Newburger, Jane W.;
    • Wypij, David;
    • Thomas, Nina H.;
    • Anagnoustou, Evdokia;
    • Brueckner, Martina;
    • Chung, Wendy K.;
    • Cleveland, John;
    • Cunningham, Sean;
    • Gelb, Bruce D.;
    • Goldmuntz, Elizabeth;
    • Hagler, Donald J;
    • Huang, Hao;
    • King, Eileen;
    • McQuillen, Patrick;
    • Miller, Thomas A.;
    • Norris‐Brilliant, Ami;
    • Porter, George A.;
    • Roberts, Amy E.;
    • Grant, P. Ellen
    Publication type:
    Article
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    Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009189
    By:
    • Martin-Trujillo, Alejandro;
    • Patel, Nihir;
    • Richter, Felix;
    • Jadhav, Bharati;
    • Garg, Paras;
    • Morton, Sarah U.;
    • McKean, David M.;
    • DePalma, Steven R.;
    • Goldmuntz, Elizabeth;
    • Gruber, Dorota;
    • Kim, Richard;
    • Newburger, Jane W.;
    • Porter, George A.;
    • Giardini, Alessandro;
    • Bernstein, Daniel;
    • Tristani-Firouzi, Martin;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.;
    • Chung, Wendy K.;
    • Gelb, Bruce D.
    Publication type:
    Article
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    MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 8, p. 2375, doi. 10.1093/hmg/ddv004
    By:
    • Xi, Qiongchao J.;
    • Quintero-Rivera, Fabiola;
    • Keppler-Noreuil, Kim M.;
    • Ji Hyun Lee;
    • Higgins, Anne W.;
    • Anchan, Raymond M.;
    • Roberts, Amy E.;
    • Ihn Sik Seong;
    • Xueping Fan;
    • Lage, Kasper;
    • Lu, Lily Y.;
    • Tao, Joanna;
    • Xuchen Hu;
    • Berezney, Ronald;
    • Gelb, Bruce D.;
    • Kamp, Anna;
    • Moskowitz, Ivan P.;
    • Lacro, Ronald V.;
    • Lu, Weining;
    • Morton, Cynthia C.
    Publication type:
    Article
    24

    EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

    Published in:
    Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00738-1
    By:
    • Hsieh, Alexander;
    • Morton, Sarah U.;
    • Willcox, Jon A. L.;
    • Gorham, Joshua M.;
    • Tai, Angela C.;
    • Qi, Hongjian;
    • DePalma, Steven;
    • McKean, David;
    • Griffin, Emily;
    • Manheimer, Kathryn B.;
    • Bernstein, Daniel;
    • Kim, Richard W.;
    • Newburger, Jane W.;
    • Porter, George A.;
    • Srivastava, Deepak;
    • Tristani-Firouzi, Martin;
    • Brueckner, Martina;
    • Lifton, Richard P.;
    • Goldmuntz, Elizabeth;
    • Gelb, Bruce D.
    Publication type:
    Article
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    The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
    By:
    • Pierpont, Elizabeth I.;
    • Bennett, Anton M.;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Anschutz, April;
    • Borrie, Sarah C.;
    • Briggs, Benjamin;
    • Burkitt‐Wright, Emma;
    • Castel, Pau;
    • Cirstea, Ion C.;
    • Draaisma, Fieke;
    • Ellis, Michelle;
    • Fear, Vanessa S.;
    • Frone, Megan N.;
    • Flex, Elisabetta;
    • Gelb, Bruce D.;
    • Green, Tamar;
    • Gripp, Karen W.;
    • Khoshkhoo, Sattar;
    • Kieran, Mark W.
    Publication type:
    Article
    27

    The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1915, doi. 10.1002/ajmg.a.62716
    By:
    • Kontaridis, Maria I.;
    • Roberts, Amy E.;
    • Schill, Lisa;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Andelfinger, Gregor;
    • Aoki, Yoko;
    • Axelrad, Marni E.;
    • Bakker, Annette;
    • Bennett, Anton M.;
    • Broniscer, Alberto;
    • Castel, Pau;
    • Chang, Caitlin A.;
    • Cyganek, Lukas;
    • Das, Tirtha K.;
    • den Hertog, Jeroen;
    • Galperin, Emilia;
    • Garg, Shruti;
    • Gelb, Bruce D.;
    • Gordon, Kristiana
    Publication type:
    Article
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    Headaches in hypermobility syndromes: A pain in the neck?

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2902, doi. 10.1002/ajmg.a.61873
    By:
    • Malhotra, Anuj;
    • Pace, Anna;
    • Ruiz Maya, Tania;
    • Colman, Rachel;
    • Gelb, Bruce D.;
    • Mehta, Lakshmi;
    • Kontorovich, Amy R.
    Publication type:
    Article
    31

    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
    32

    The sixth international RASopathies symposium: Precision medicine—From promise to practice.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 597, doi. 10.1002/ajmg.a.61434
    By:
    • Gripp, Karen W.;
    • Schill, Lisa;
    • Schoyer, Lisa;
    • Stronach, Beth;
    • Bennett, Anton M.;
    • Blaser, Susan;
    • Brown, Amanda;
    • Burdine, Rebecca;
    • Burkitt‐Wright, Emma;
    • Castel, Pau;
    • Darilek, Sandra;
    • Dias, Alwyn;
    • Dyer, Tuesdi;
    • Ellis, Michelle;
    • Erickson, Gregg;
    • Gelb, Bruce D.;
    • Green, Tamar;
    • Gross, Andrea;
    • Ho, Alan;
    • Holder, James Lloyd
    Publication type:
    Article
    33

    Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
    By:
    • Rauen, Katherine A.;
    • Schoyer, Lisa;
    • Schill, Lisa;
    • Stronach, Beth;
    • Albeck, John;
    • Andresen, Brage S.;
    • Cavé, Hélène;
    • Ellis, Michelle;
    • Fruchtman, Steven M.;
    • Gelb, Bruce D.;
    • Gibson, Christopher C.;
    • Gripp, Karen;
    • Hefner, Erin;
    • Huang, William Y. C.;
    • Itkin, Maxim;
    • Kerr, Bronwyn;
    • Linardic, Corinne M.;
    • McMahon, Martin;
    • Oberlander, Beverly;
    • Perlstein, Ethan
    Publication type:
    Article
    34

    The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
    By:
    • Stevenson, David A.;
    • Schill, Lisa;
    • Schoyer, Lisa;
    • Andresen, Brage S.;
    • Bakker, Annette;
    • Bayrak‐Toydemir, Pinar;
    • Burkitt‐Wright, Emma;
    • Chatfield, Kathryn;
    • Elefteriou, Florent;
    • Elgersma, Ype;
    • Fisher, Michael J.;
    • Franz, David;
    • Gelb, Bruce D.;
    • Goriely, Anne;
    • Gripp, Karen W.;
    • Hardan, Antonio Y.;
    • Keppler‐Noreuil, Kim M.;
    • Kerr, Bronwyn;
    • Korf, Bruce;
    • Leoni, Chiara
    Publication type:
    Article
    35

    The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
    By:
    • Korf, Bruce;
    • Ahmadian, Reza;
    • Allanson, Judith;
    • Aoki, Yoko;
    • Bakker, Annette;
    • Wright, Emma Burkitt;
    • Denger, Brian;
    • Elgersma, Ype;
    • Gelb, Bruce D.;
    • Gripp, Karen W.;
    • Kerr, Bronwyn;
    • Kontaridis, Maria;
    • Lazaro, Conxi;
    • Linardic, Corinne;
    • Lozano, Reymundo;
    • MacRae, Calum A.;
    • Messiaen, Ludwine;
    • Mulero‐Navarro, Sonia;
    • Neel, Benjamin;
    • Plotkin, Scott
    Publication type:
    Article
    36

    Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 744, doi. 10.1002/ajmg.a.36982
    By:
    • Hahn, Andreas;
    • Lauriol, Jessica;
    • Thul, Josef;
    • Behnke‐Hall, Kachina;
    • Logeswaran, Tushiha;
    • Schänzer, Anne;
    • Böğürcü, Nuray;
    • Garvalov, Boyan K.;
    • Zenker, Martin;
    • Gelb, Bruce D.;
    • von Gerlach, Susanne;
    • Kandolf, Reinhard;
    • Kontaridis, Maria I.;
    • Schranz, Dietmar
    Publication type:
    Article
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    Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.

    Published in:
    Pediatric Cardiology, 2018, v. 39, n. 7, p. 1453, doi. 10.1007/s00246-018-1916-6
    By:
    • Hoskoppal, Arvind;
    • Menon, Shaji;
    • Trachtenberg, Felicia;
    • Burns, Kristin M.;
    • De Backer, Julie;
    • Gelb, Bruce D.;
    • Gleason, Marie;
    • James, Jeanne;
    • Lai, Wyman W.;
    • Liou, Aimee;
    • Mahony, Lynn;
    • Olson, Aaron K.;
    • Pyeritz, Reed E.;
    • Sharkey, Angela M.;
    • Stylianou, Mario;
    • Wechsler, Stephanie Burns;
    • Young, Luciana;
    • Levine, Jami C.;
    • Tierney, Elif Seda Selamet;
    • Lacro, Ronald V.
    Publication type:
    Article
    41

    Neonatal Marfan Syndrome.

    Published in:
    Pediatric Cardiology, 2006, v. 27, n. 6, p. 763, doi. 10.1007/s00246-006-1378-0
    By:
    • Ramaswamy, Prema;
    • Lytrivi, Irena D.;
    • Khanh Nguyen;
    • Gelb, Bruce D.
    Publication type:
    Article
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    Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

    Published in:
    Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
    By:
    • Ion, Andra;
    • Tartaglia, Marco;
    • Song, Xiaoling;
    • Kalidas, Kamini;
    • van der Burgt, Ineke;
    • Shaw, Adam C.;
    • Ming, Jeffrey E.;
    • Zampino, Giuseppe;
    • Zackai, Elaine H.;
    • Dean, John C.;
    • Somer, Mirja;
    • Parenti, Giancarlo;
    • Crosby, Andrew H.;
    • Patton, Michael A.;
    • Gelb, Bruce D.;
    • Jeffery, Steve
    Publication type:
    Article
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    Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02762-z
    By:
    • Gilsbach, Ralf;
    • Schwaderer, Martin;
    • Preissl, Sebastian;
    • Grüning, Björn A.;
    • Kranzhöfer, David;
    • Schneider, Pedro;
    • Nührenberg, Thomas G.;
    • Mulero-Navarro, Sonia;
    • Weichenhan, Dieter;
    • Braun, Christian;
    • Dreßen, Martina;
    • Jacobs, Adam R.;
    • Lahm, Harald;
    • Doenst, Torsten;
    • Backofen, Rolf;
    • Krane, Markus;
    • Gelb, Bruce D.;
    • Hein, Lutz
    Publication type:
    Article
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    Identification of rare de novo epigenetic variations in congenital disorders.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04540-x
    By:
    • Joshi, Ricky S.;
    • Garg, Paras;
    • Martin-Trujillo, Alejandro;
    • Patel, Nihir;
    • Jadhav, Bharati;
    • Watson, Corey T.;
    • Gibson, William;
    • Tessereau, Chloe;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.;
    • Barbosa, Mafalda;
    • Buxbaum, Joseph D.;
    • Grice, Dorothy E.;
    • Soares, Gabriela;
    • De Rubeis, Silvia;
    • Reichert, Jennifer;
    • Chetnik, Kelsey;
    • Edelmann, Lisa;
    • Hui Mei;
    • Lopes, Fatima
    Publication type:
    Article
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    The heart in RASopathies.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 440, doi. 10.1002/ajmg.c.32014
    By:
    • Delogu, Angelica Bibiana;
    • Limongelli, Giuseppe;
    • Versacci, Paolo;
    • Adorisio, Rachele;
    • Kaski, Juan Pablo;
    • Blandino, Rita;
    • Maiolo, Stella;
    • Monda, Emanuele;
    • Putotto, Carolina;
    • De Rosa, Gabriella;
    • Chatfield, Kathryn C.;
    • Gelb, Bruce D.;
    • Calcagni, Giulio
    Publication type:
    Article
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