The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency

por Gelb, Bruce D.
Publicado 2016

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

por Tartaglia, Marco, Aoki, Yoko, Gelb, Bruce D.
Publicado 2022

Fgfr3 Is a Transcriptional Target of Ap2δ and Ash2l-Containing Histone Methyltransferase Complexes

por Tan, Cheryl C., Walsh, Martin J., Gelb, Bruce D.
Publicado 2009

Small open reading frames: a comparative genetics approach to validation

por Jain, Niyati, Richter, Felix, Adzhubei, Ivan, Sharp, Andrew J., Gelb, Bruce D.
Publicado 2023

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

por Webb, Bryn D., Hotchkiss, Hilary, Prasun, Pankaj, Gelb, Bruce D., Satlin, Lisa
Publicado 2021

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

por Sevim Bayrak, Cigdem, Zhang, Peng, Tristani-Firouzi, Martin, Gelb, Bruce D., Itan, Yuval
Publicado 2020

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

por Cashman, Timothy J., Josowitz, Rebecca, Johnson, Bryce V., Gelb, Bruce D., Costa, Kevin D.
Publicado 2016

NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data

por Linderman, Michael D, Paudyal, Crystal, Shakeel, Musab, Kelley, William, Bashir, Ali, Gelb, Bruce D
Publicado 2021

PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death

por Genthe, Will, Donnelly, Colleen, Ezon, David, Fettig, Veronica, Ganesh, Jaya, Marin-Valecia, Isaac, Gelb, Bruce D.
Publicado 2023

Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy

por Das, Tirtha K., Gatto, Jared, Mirmira, Rupa, Hourizadeh, Ethan, Kaufman, Dalia, Gelb, Bruce D., Cagan, Ross
Publicado 2021

The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila

por Ruzzi, Leonardo R., Schilman, Pablo E., San Martin, Alvaro, Lew, Sergio E., Gelb, Bruce D., Pagani, Mario R.
Publicado 2020

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

por Subramanian, Sailakshmi, Di Pierro, Valentina, Shah, Hardik, Jayaprakash, Anitha D., Weisberger, Ian, Shim, Jaehee, George, Ajish, Gelb, Bruce D., Sachidanandam, Ravi
Publicado 2013

Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia

por Pearson, Stella, Guo, Baoqiang, Pierce, Andrew, Azadbakht, Narges, Brazzatti, Julie A., Patassini, Stefano, Mulero-Navarro, Sonia, Meyer, Stefan, Flotho, Christian, Gelb, Bruce D., Whetton, Anthony D.
Publicado 2019

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

por Josowitz, Rebecca, Mulero-Navarro, Sonia, Rodriguez, Nelson A., Falce, Christine, Cohen, Ninette, Ullian, Erik M., Weiss, Lauren A., Rauen, Katherine A., Sobie, Eric A., Gelb, Bruce D.
Publicado 2016

ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation

por Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.
Publicado 2018

Identification and Purification of Human Induced Pluripotent Stem Cell-Derived Atrial-Like Cardiomyocytes Based on Sarcolipin Expression

por Josowitz, Rebecca, Lu, Jia, Falce, Christine, D’Souza, Sunita L., Wu, Meng, Cohen, Ninette, Dubois, Nicole C., Zhao, Yong, Sobie, Eric A., Fishman, Glenn I., Gelb, Bruce D.
Publicado 2014

A Genotype-First Approach to Exploring Mendelian Cardiovascular Traits with Clear External Manifestations

por Wenger, Brittany M., Patel, Nihir, Lui, Madeline, Moscati, Arden, Do, Ron, Stewart, Douglas R., Tartaglia, Marco, Muiño-Mosquera, Laura, De Backer, Julie, Kontorovich, Amy R., Gelb, Bruce D.
Publicado 2020

Myopathic Cardiac Genotypes Increase Risk for Myocarditis

por Kontorovich, Amy R., Patel, Nihir, Moscati, Arden, Richter, Felix, Peter, Inga, Purevjav, Enkhsaikhan, Selejan, Simina Ramona, Kindermann, Ingrid, Towbin, Jeffrey A., Bohm, Michael, Klingel, Karin, Gelb, Bruce D.
Publicado 2021

Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in N...

por Martinelli, Simone, Nardozza, Aurelio P., Delle Vigne, Silvia, Sabetta, Gilda, Torreri, Paola, Bocchinfuso, Gianfranco, Flex, Elisabetta, Venanzi, Serenella, Palleschi, Antonio, Gelb, Bruce D., Cesareni, Gianni, Stella, Lorenzo, Castagnoli, Luisa, Tartaglia, Marco
Publicado 2012

Quantitative prediction of right ventricular and size and function from the electrocardiogram

por Duong, Son Q., Vaid, Akhil, Vy, Ha My Thi, Butler, Liam R., Lampert, Joshua, Pass, Robert H., Charney, Alexander W., Narula, Jagat, Khera, Rohan, Greenspan, Hayit, Gelb, Bruce D., Do, Ron, Nadkarni, Girish
Publicado 2023