Works by Gelb, Bruce D.

Results: 86

Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.

Published in:

Quality of Life Research, 2024, v. 33, n. 7, p. 1997, doi. 10.1007/s11136-024-03677-1

By:

Berkalieva, Asem;
Kelly, Nicole R.;
Fisher, Ashley;
Hohmann, Samuel F.;
Abul-Husn, Noura S.;
Greally, John M.;
Horowitz, Carol R.;
Wasserstein, Melissa P.;
Kenny, Eimear E.;
Gelb, Bruce D.;
Ferket, Bart S.

Publication type:

Article

Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing.

Published in:

Human Mutation, 2020, v. 41, n. 4, p. 800, doi. 10.1002/humu.23971

By:

Seiden, Allison H.;
Richter, Felix;
Patel, Nihir;
Rodriguez, Oscar L.;
Deikus, Gintaras;
Shah, Hardik;
Smith, Melissa;
Roberts, Amy;
King, Eileen C.;
Sebra, Robert P.;
Sharp, Andrew J.;
Gelb, Bruce D.

Publication type:

Article

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.

Published in:

Journal of the American Heart Association, 2025, v. 14, n. 5, p. 1, doi. 10.1161/JAHA.124.036860

By:

Ward, Tarsha;
Morton, Sarah U.;
Venturini, Gabriela;
Tai, Warren;
Min Young Jang;
Gorham, Joshua;
Delaughter, Dan;
Wasson, Lauren K.;
Khazal, Zahra;
Homsy, Jason;
Gelb, Bruce D.;
Chung, Wendy K.;
Bruneau, Benoit G.;
Brueckner, Martina;
Tristani-Firouzi, Martin;
DePalma, Steven R.;
Seidman, Christine;
Seidman, J. G.

Publication type:

Article

Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.

Published in:

Journal of the American Heart Association, 2024, v. 13, n. 19, p. 1, doi. 10.1161/JAHA.124.036214

By:

Peterson, Jennifer K.;
Clarke, Shanelle;
Gelb, Bruce D.;
Kasparian, Nadine A.;
Kazazian, Vanna;
Pieciak, Karyn;
Pike, Nancy A.;
Setty, Shaun P.;
Uveges, Melissa K.;
Rudd, Nancy A.

Publication type:

Article

Quantitative Prediction of Right Ventricular Size and Function From the ECG.

Published in:

Journal of the American Heart Association, 2024, v. 13, n. 1, p. 1, doi. 10.1161/JAHA.123.031671

By:

Duong, Son Q.;
Vaid, Akhil;
Vy Thi Ha My;
Butler, Liam R.;
Lampert, Joshua;
Pass, Robert H.;
Charney, Alexander W.;
Narula, Jagat;
Khera, Rohan;
Sakhuja, Ankit;
Greenspan, Hayit;
Gelb, Bruce D.;
Do, Ron;
Nadkarni, Girish N.

Publication type:

Article

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

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

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Published in:

Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0709-8

By:

Sevim Bayrak, Cigdem;
Zhang, Peng;
Tristani-Firouzi, Martin;
Gelb, Bruce D.;
Itan, Yuval

Publication type:

Article

Signaling to Cardiac Hypertrophy: Insights from Human and Mouse RASopathies.

Published in:

Molecular Medicine, 2012, v. 18, n. 6, p. 938, doi. 10.2119/molmed.2011.00512

By:

Sala, Valentina;
Gallo, Simona;
Leo, Christian;
Gatti, Stefano;
Gelb, Bruce D.;
Crepaldi, Tiziana

Publication type:

Article

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

Published in:

Nature, 2010, v. 465, n. 7299, p. 808, doi. 10.1038/nature09005

By:

Carvajal-Vergara, Xonia;
Sevilla, Ana;
D'Souza, Sunita L.;
Ang, Yen-Sin;
Schaniel, Christoph;
Lee, Dung-Fang;
Lei Yang;
Kaplan, Aaron D.;
Adler, Eric D.;
Rozov, Roye;
YongChao Ge;
Cohen, Ninette;
Edelmann, Lisa J.;
Chang, Betty;
Waghray, Avinash;
Jie Su;
Pardo, Sherly;
Lichtenbelt, Klaske D.;
Tartaglia, Marco;
Gelb, Bruce D.

Publication type:

Article

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

Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

Published in:

PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0146697

By:

Cashman, Timothy J.;
Josowitz, Rebecca;
Johnson, Bryce V.;
Gelb, Bruce D.;
Costa, Kevin D.

Publication type:

Article

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Published in:

Nature Genetics, 2003, v. 34, n. 2, p. 148, doi. 10.1038/ng1156

By:

Tartaglia, Marco;
Niemeyer, Charlotte M;
Fragale, Alessandra;
Song, Xiaoling;
Buechner, Jochen;
Jung, Andreas;
Hahlen, Karel;
Hasle, Henrik;
Licht, Jonathan D;
Gelb, Bruce D

Publication type:

Article

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Published in:

Nature Genetics, 2001, v. 29, n. 4, p. 465, doi. 10.1038/ng772

By:

Tartaglia, Marco;
Mehler, Ernest L.;
Goldberg, Rosalie;
Zampino, Giuseppe;
Brunner, Han G.;
Kremer, Hannie;
van der Burgt, Ineke;
Crosby, Andrew H.;
Ion, Andra;
Jeffery, Steve;
Kalidas, Kamini;
Patton, Michael A.;
Kucherlapati, Raju S.;
Gelb, Bruce D.

Publication type:

Article

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

Published in:

Nature Genetics, 2000, v. 25, n. 1, p. 42, doi. 10.1038/75578

By:

Satoda, Masahiko;
Zhao, Feng;
Diaz, George A.;
Burn, John;
Goodship, Judith;
Davidson, H. Rosemarie;
Pierpont, Mary Ella M.;
Gelb, Bruce D.

Publication type:

Article

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.

Published in:

Nature Genetics, 1999, v. 22, n. 3, p. 309, doi. 10.1038/10385

By:

Diaz, George A.;
Banikazemi, Maryam;
Oishi, Kimihiko;
Desnick, Robert J.;
Gelb, Bruce D.

Publication type:

Article

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

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

Robust identification of mosaic variants in congenital heart disease.

Published in:

Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6

By:

Manheimer, Kathryn B.;
Richter, Felix;
Edelmann, Lisa J.;
D'souza, Sunita L.;
Shi, Lisong;
Shen, Yufeng;
Homsy, Jason;
Boskovski, Marko T.;
Tai, Angela C.;
Gorham, Joshua;
Yasso, Christopher;
Goldmuntz, Elizabeth;
Brueckner, Martina;
Lifton, Richard P.;
Chung, Wendy K.;
Seidman, Christine E.;
Seidman, J. G.;
Gelb, Bruce D.

Publication type:

Article

MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.

Published in:

Neuro-Oncology, 2022, v. 24, n. 11, p. 1845, doi. 10.1093/neuonc/noac165

By:

Blank, Peter M K de;
Gross, Andrea M;
Akshintala, Srivandana;
Blakeley, Jaishri O;
Bollag, Gideon;
Cannon, Ashley;
Dombi, Eva;
Fangusaro, Jason;
Gelb, Bruce D;
Hargrave, Darren;
Kim, AeRang;
Klesse, Laura J;
Loh, Mignon;
Martin, Staci;
Moertel, Christopher;
Packer, Roger;
Payne, Jonathan M;
Rauen, Katherine A;
Rios, Jonathan J;
Robison, Nathan

Publication type:

Article

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12582-y

By:

Watkins, W. Scott;
Hernandez, E. Javier;
Wesolowski, Sergiusz;
Bisgrove, Brent W.;
Sunderland, Ryan T.;
Lin, Edwin;
Lemmon, Gordon;
Demarest, Bradley L.;
Miller, Thomas A.;
Bernstein, Daniel;
Brueckner, Martina;
Chung, Wendy K.;
Gelb, Bruce D.;
Goldmuntz, Elizabeth;
Newburger, Jane W.;
Seidman, Christine E.;
Shen, Yufeng;
Yost, H. Joseph;
Yandell, Mark;
Tristani-Firouzi, Martin

Publication type:

Article

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

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

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

Small open reading frames: a comparative genetics approach to validation.

Published in:

BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09311-7

By:

Jain, Niyati;
Richter, Felix;
Adzhubei, Ivan;
Sharp, Andrew J.;
Gelb, Bruce D.

Publication type:

Article

Small open reading frames: a comparative genetics approach to validation.

Published in:

BMC Genomics, 2023, v. 24, p. 1, doi. 10.1186/s12864-023-09311-7

By:

Jain, Niyati;
Richter, Felix;
Adzhubei, Ivan;
Sharp, Andrew J.;
Gelb, Bruce D.

Publication type:

Article

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Published in:

Human Mutation, 2018, v. 39, n. 11, p. 1485, doi. 10.1002/humu.23624

By:

Grant, Andrew R.;
Cushman, Brandon J.;
Cavé, Hélène;
Dillon, Mitchell W.;
Gelb, Bruce D.;
Gripp, Karen W.;
Lee, Jennifer A.;
Mason‐Suares, Heather;
Rauen, Katherine A.;
Tartaglia, Marco;
Vincent, Lisa M.;
Zenker, Martin

Publication type:

Article

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

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

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

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

Parents and clinicians underestimate distress and depression in children who had a transplant.

Published in:

Pediatric Transplantation, 2005, v. 9, n. 5, p. 673, doi. 10.1111/j.1399-3046.2005.00382.x

By:

Shemesh, Eyal;
Annunziato, Rachel A.;
Shneider, Benjamin L.;
Newcorn, Jeffrey H.;
Warshaw, Jill K.;
Dugan, Christina A.;
Gelb, Bruce D.;
Kerkar, Nanda;
Yehuda, Rachel;
Emre, Sukru

Publication type:

Article

The Congenital Heart Disease Genetic Network Study: Cohort description.

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191319

By:

Hoang, Thanh T.;
Goldmuntz, Elizabeth;
Roberts, Amy E.;
Chung, Wendy K.;
Kline, Jennie K.;
Deanfield, John E.;
Giardini, Alessandro;
Aleman, Adolfo;
Gelb, Bruce D.;
Mac Neal, Meghan;
Jr.Porter, George A.;
Kim, Richard;
Brueckner, Martina;
Lifton, Richard P.;
Edman, Sharon;
Woyciechowski, Stacy;
Mitchell, Laura E.;
Agopian, A. J.

Publication type:

Article

Evaluation of Pulmonary Artery Banding in the Setting of Ventricular Septal Defects and Severely Elevated Pulmonary Vascular Resistance.

Published in:

Congenital Heart Disease, 2006, v. 1, n. 5, p. 244, doi. 10.1111/j.1747-0803.2006.00043.x

By:

Khan, Sadaf A.;
Gelb, Bruce D.;
Nguyen, Khanh H.

Publication type:

Article

Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates.

Published in:

2009

By:

Boskey, Adele L.;
Gelb, Bruce D.;
Pourmand, Eric;
Kudrashov, Valery;
Doty, Stephen B.;
Spevak, Lyudmila;
Schaffler, Mitchell B.

Publication type:

journal article

Efficient identification of de novo mutations in family trios: a consensus-based informatic approach.

Published in:

Life Science Alliance, 2025, v. 8, n. 6, p. 1, doi. 10.26508/lsa.202403039

By:

Shadrina, Mariya;
Kalay, Özem;
Demirkaya-Budak, Sinem;
LeDuc, Charles A.;
Chung, Wendy K.;
Turgut, Deniz;
Budak, Gungor;
Arslan, Elif;
Semenyuk, Vladimir;
Davis-Dusenbery, Brandi;
Seidman, Christine E.;
Yost, H. Joseph;
Jain, Amit;
Gelb, Bruce D.

Publication type:

Article

Sudden Death in Pediatric Patient With Dilated Cardiomyopathy Due to Founder Variant in NKX2-5 : Case Report.

Published in:

Academic Forensic Pathology: The Official Publication of the National Association of Medical Examiners, 2024, v. 14, n. 3, p. 108, doi. 10.1177/19253621241264857

By:

Scibetta, Nicholas;
Sampson, Barbara A.;
Tang, Yingying;
Gelb, Bruce D.

Publication type:

Article

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

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.68047

By:

Webb, Bryn D.;
Nowinski, Sara M.;
Solmonson, Ashley;
Ganesh, Jaya;
Rodenburg, Richard J.;
Leandro, Joao;
Evans, Anthony;
Vu, Hieu S.;
Naidich, Thomas P.;
Gelb, Bruce D.;
DeBerardinis, Ralph J.;
Rutter, Jared;
Houten, Sander M.

Publication type:

Article

Isolation, characterization, and mapping of four novel polymorphic markers and an H3.3B pseudogene to chromosome 9p21-22.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 5, p. 348, doi. 10.1007/s100380050174

By:

Aliprandis, Elias;
Harris, Juliette;
Yoo, Barney;
Gelb, Bruce D.;
Martignetti, J. A.

Publication type:

Article

New prospectives on treatment opportunities in RASopathies.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 541, doi. 10.1002/ajmg.c.32024

By:

Gelb, Bruce D.;
Yohe, Marielle E.;
Wolf, Cordula;
Andelfinger, Gregor

Publication type:

Article

The molecular genetics of RASopathies: An update on novel disease genes and new disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 425, doi. 10.1002/ajmg.c.32012

By:

Tartaglia, Marco;
Aoki, Yoko;
Gelb, Bruce D.

Publication type:

Article

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

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 73, doi. 10.1002/ajmg.c.31765

By:

Linglart, Léa;
Gelb, Bruce D.

Publication type:

Article

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 99, doi. 10.1111/j.1749-6632.2010.05790.x

By:

Tartaglia, Marco;
Gelb, Bruce D.

Publication type:

Article

Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect.

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Genes, Chromosomes & Cancer, 2000, v. 27, n. 2, p. 191, doi. 10.1002/(SICI)1098-2264(200002)27:2<191::AID-GCC11>3.0.CO;2-L

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Martignetti, John A.;
Gelb, Bruce D.;
Pierce, Heather;
Picci, Piero;
Desnick, Robert J.

Publication type:

Article

NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.

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Bioinformatics, 2024, v. 40, n. 3, p. 1, doi. 10.1093/bioinformatics/btae129

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Linderman, Michael D;
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Shi, Yiran;
Hansen, Peter;
Shamsi, Zahra;
Liu, Jeremiah;
Gelb, Bruce D;
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Article

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.

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JAMA Network Open, 2023, v. 6, n. 1, p. e2253191, doi. 10.1001/jamanetworkopen.2022.53191

By:

Morton, Sarah U.;
Norris-Brilliant, Ami;
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King, Eileen;
Goldmuntz, Elizabeth;
Brueckner, Martina;
Miller, Thomas A.;
Thomas, Nina H.;
Liu, Chunyan;
Adams, Heather R.;
Bellinger, David C.;
Cleveland, John;
Cnota, James F.;
Dale, Anders M.;
Frommelt, Michele;
Gelb, Bruce D.;
Grant, P. Ellen;
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Huang, Hao;
Kuperman, Joshua M.

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Article

MiST: A new approach to variant detection in deep sequencing datasets.

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Nucleic Acids Research, 2013, v. 41, n. 16, p. e154, doi. 10.1093/nar/gkt551

By:

Subramanian, Sailakshmi;
Di Pierro, Valentina;
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Weisberger, Ian;
Shim, Jaehee;
George, Ajish;
Gelb, Bruce D.;
Sachidanandam, Ravi

Publication type:

Article

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

Published in:

Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824

By:

McKean, David M.;
Homsy, Jason;
Wakimoto, Hiroko;
Patel, Neil;
Gorham, Joshua;
DePalma, Steven R.;
Ware, James S.;
Zaidi, Samir;
Ma, Wenji;
Patel, Nihir;
Lifton, Richard P.;
Chung, Wendy K.;
Kim, Richard;
Shen, Yufeng;
Brueckner, Martina;
Goldmuntz, Elizabeth;
Sharp, Andrew J.;
Seidman, Christine E.;
Gelb, Bruce D.;
Seidman, J. G.

Publication type:

Article