Bibliotecas PUC-SP - Busca Integrada

Mammalian comparative sequence analysis of the Agrp locus.

по Christopher B Kaelin, Gregory M Cooper, Arend Sidow, Gregory S Barsh
Опубликовано в: PLoS ONE (2007-08-01)

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

по Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou
Опубликовано в: PLoS Computational Biology (2010-12-01)

Evaluating the strength of genetic results: Risks and responsibilities.

по Gregory S Barsh, Gregory M Cooper, Gregory P Copenhaver, Giorgio Sirugo, Hua Tang, Scott M Williams
Опубликовано в: PLoS Genetics (2019-10-01)

Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin

по Phillip H. Gallo, James J. Cray, Emily L. Durham, Mark P. Mooney, Gregory M. Cooper, Sandeep Kathju
Опубликовано в: International Journal of Genomics (2013-01-01)

Fluctuating dental asymmetry in rabbits with familial nonsyndromic coronal suture synostosis

по Mae A. Hyre, Seth M. Weinberg, Gregory M. Cooper, James Gilbert, Michael I. Siegel, Mark P. Mooney
Опубликовано в: Dentistry 3000 (2017-10-01)

Accelerated calvarial healing in mice lacking Toll-like receptor 4.

по Dan Wang, James R Gilbert, James J Cray, Adam A Kubala, Melissa A Shaw, Timothy R Billiar, Gregory M Cooper
Опубликовано в: PLoS ONE (2012-01-01)

PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.

по Gregory S Barsh, Gregory M Cooper, Gregory P Copenhaver, Greg Gibson, Mark I McCarthy, Hua Tang, Scott M Williams
Опубликовано в: PLoS Genetics (2015-12-01)

Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit.

по James R Gilbert, Joseph E Losee, Mark P Mooney, James J Cray, Jennifer Gustafson, Michael L Cunningham, Gregory M Cooper
Опубликовано в: PLoS ONE (2018-01-01)

Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity

по Owen R. Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly L. Vallance, D. Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon
Опубликовано в: Genetics in Medicine Open (2024-01-01)

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

по Ivan K. Popov, Susan M. Hiatt, Sandra Whalen, Boris Keren, Claudia Ruivenkamp, Arie van Haeringen, Mei-Jan Chen, Gregory M. Cooper, Bruce R. Korf, Chenbei Chang
Опубликовано в: Frontiers in Physiology (2019-04-01)

Expectations for papers performing Mendelian randomization analyses.

по Scott M Williams, Hua Tang, Gregory M Cooper, Anne O'Donnell-Luria, Santhosh Girirajan, Aimée M Dudley, Anne Goriely, Zoltán Kutalik, Xiaofeng Zhu, Giorgio Sirugo, Michael P Epstein
Опубликовано в: PLoS Genetics (2025-07-01)

Expectations for papers performing Mendelian randomization analyses

по Scott M. Williams, Hua Tang, Gregory M. Cooper, Anne O’Donnell-Luria, Santhosh Girirajan, Aimée M. Dudley, Anne Goriely, Zoltán Kutalik, Xiaofeng Zhu, Giorgio Sirugo, Michael P. Epstein
Опубликовано в: PLoS Genetics (2025-07-01)

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

по Yuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, J Nicholas Cochran, Megan P Newton, Laura J Lambert, Robert A Kesterson, Richard M Myers, Gregory M Cooper, Erik D Roberson, Gregory S Barsh
Опубликовано в: PLoS Genetics (2021-01-01)

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

по Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally, Anna C. E. Hurst
Опубликовано в: Genome Medicine (2022-11-01)

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

по Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill
Опубликовано в: PLoS Genetics (2017-08-01)

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

по Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley, Ryne C. Ramaker, Brianne B. Rogers, E. Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B. Plott, Jerry Jenkins, David E. Gray, James M. Holt, Kevin M. Bowling, E. Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M. Cooper
Опубликовано в: HGG Advances (2021-04-01)

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

по Federico Innocenti, Gregory M Cooper, Ian B Stanaway, Eric R Gamazon, Joshua D Smith, Snezana Mirkov, Jacqueline Ramirez, Wanqing Liu, Yvonne S Lin, Cliona Moloney, Shelly Force Aldred, Nathan D Trinklein, Erin Schuetz, Deborah A Nickerson, Ken E Thummel, Mark J Rieder, Allan E Rettie, Mark J Ratain, Nancy J Cox, Christopher D Brown
Опубликовано в: PLoS Genetics (2011-05-01)

338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

по Nita A Limdi, Devin Absher, Irf Asif, Lori Bateman, Greg Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James Lawlor, Thomas May, Matt Might, Irene P. Moss, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. Thompson
Опубликовано в: Journal of Clinical and Translational Science (2023-04-01)

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

по Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper
Опубликовано в: Genome Medicine (2017-05-01)

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

по Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
Опубликовано в: PLoS Genetics (2018-11-01)