Resultados de procura - Nihir Patel
- Mostrando 1 - 6 Resultados de 6
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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions por Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp
Publicado 2020Artigo -
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Loss of RNA expression and allele-specific expression associated with congenital heart disease por David McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua M. Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb
Publicado 2016Artigo -
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Identification of rare de novo epigenetic variations in congenital disorders por Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William T. Gibson, Kelsey Chetnik, Chloé Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fátima Lopes, Lisenka E.L.M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patrı́cia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Publicado 2018Artigo -
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Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study por Emily Griffin, Shannon N. Nees, Sarah U. Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M. Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen King, James F. Cnota, Richard W. Kim, George A. Porter, Martina Brueckner, Christine E. Seidman, Yufeng Shen, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Amy E. Roberts, Wendy K. Chung
Publicado 2023Artigo -
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Genomic analyses implicate noncoding de novo variants in congenital heart disease por Felix Richter, Sarah U. Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K. Wasson, Kathleen Chen, Jian Zhou, Hongjian Qi, Nihir Patel, Steven R. DePalma, Michael Parfenov, Jason Homsy, Joshua M. Gorham, Kathryn B. Manheimer, Matthew Velinder, Andrew Farrell, Gábor Marth, Eric E. Schadt, Jonathan R. Kaltman, Jane W. Newburger, Anna Giardini, Elizabeth Goldmuntz, Martina Brueckner, Richard Kim, George A. Porter, Daniel Bernstein, Wendy K. Chung, Deepak Srivastava, Martin Tristani‐Firouzi, Olga G. Troyanskaya, Diane E. Dickel, Yufeng Shen, Jonathan G. Seidman, Christine E. Seidman, Bruce D. Gelb
Publicado 2020Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Genetics
Gene
Medicine
Computational biology
DNA methylation
Gene expression
Genome
Heart disease
Internal medicine
Copy-number variation
Disease
Epigenetics
Human genome
Phenotype
Acute myocarditis
Allele
CTCF
Candidate gene
Cardiology
Cardiomyopathy
Chromatin
DNA sequencing
Enhancer
Environmental health
Exome
Exome sequencing
Gene silencing
Genetic counseling
Genetic testing