Bibliotecas PUC-SP - Busca Integrada

A study of elective genome sequencing and pharmacogenetic testing in an unselected population

Yazar: Meagan Cochran, Kelly East, Veronica Greve, Melissa Kelly, Whitley Kelley, Troy Moore, Richard M. Myers, Katherine Odom, Molly C. Schroeder, David Bick
Yayımlandı Molecular Genetics & Genomic Medicine (2021-09-01)

P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening

Yazar: Stephanie Luca, Katharine Fooks, Elise Poole, Amanda Pichini, Joanna Ziff, Katrina Stone, Bowen Xiao, Salma Shickh, David Bick, Pranesh Chakraborty, Wendy Ungar, Robin Hayeems
Yayımlandı Genetics in Medicine Open (2024-01-01)

P213: Exploring heterogeneity among gene lists proposed for newborn sequencing

Yazar: Thomas Minten, Sophia Adelson, Laura Amendola, David Bick, François Boemer, Alison Coffey, Nicolas Encina, Bianca Russell, Laurent Servais, Kristen Sund, Ryan Taft, Robert Green, Nina Gold
Yayımlandı Genetics in Medicine Open (2024-01-01)

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

Yazar: David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott
Yayımlandı International Journal of Neonatal Screening (2022-07-01)

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Yazar: Amanda Pichini, Arzoo Ahmed, Christine Patch, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperaviciute, Dasha Deen, Simon Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott
Yayımlandı Frontiers in Genetics (2022-05-01)

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

Yazar: Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Yayımlandı npj Genomic Medicine (2024-02-01)

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

Yazar: Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative
Yayımlandı Genome Medicine (2020-05-01)

Clinical utility of genomic sequencing: a measurement toolkit

Yazar: Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Yayımlandı npj Genomic Medicine (2020-12-01)

Best practices for the interpretation and reporting of clinical whole genome sequencing

Yazar: Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*
Yayımlandı npj Genomic Medicine (2022-04-01)

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Yazar: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Yayımlandı Nature Communications (2018-10-01)