Bibliotecas PUC-SP - Busca Integrada

P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel

Por Anne O'Donnell-Luria, Ellie Broeren, Alison Coffey, Syndromic Disorders Gene Curation Expert Panel
Publicado no Genetics in Medicine Open (2024-01-01)

P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation

Por Katie Golden-Grant, Amanda Buchanan, Alison Coffey, Yvonne Brew, Brittany Thomas, Akanchha Kesari, Denise Perry, Ryan Taft
Publicado no Genetics in Medicine Open (2023-01-01)

P213: Exploring heterogeneity among gene lists proposed for newborn sequencing

Por 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
Publicado no Genetics in Medicine Open (2024-01-01)

P420: Development of a comprehensive cardiovascular disease whole genome sequencing test

Por Laura Amendola, Alison Coffey, Samuel Strom, Akanchha Kesari, James Avecilla, Josh Lowry, Stetson Thacker, Julie Taylor, Kathryn Golden-Grant, Matt Brown, Becky Milewski, John Belmont, Denise Perry, Ryan Taft
Publicado no Genetics in Medicine Open (2023-01-01)

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Por Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Publicado no Genetics in Medicine Open (2023-01-01)

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*

Por Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
Publicado no Genetics in Medicine Open (2024-01-01)

O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city

Por Wendy Chung, Alban Ziegler, Carrie Koval-Burt, Denise Kay, Sharon Suchy, Amber Bergtrup, Katherine Langley, Laura Amendola, Brenna Boyd, Jennifer Bradley, Tracy Brandt, Lilian Cohen, Alison Coffey, Joseph Devaney, Beata Dygulska, Bethany Friedman, Ramsey Fuleihan, Awura Gyimah, Rebecca Hernan, Sean Hofherr, Kathleen Hruska, Zhanzhi Hu, Mederic Jeanne, Guanjun Jin, Aaron Johnson, Haluk Kavus, Rudolph Leibel, Kirsty McWalter, Kristin Monaghan, Nicole Pimentel Soler, Yeyson Quevedo, Samantha Ratner, Kyle Retterer, Natasha Shapiro, Robert Sicko, Samuel Storm, Rebecca Torene, Olatundun Williams, Julia Wynn, Ryan Taft, Paul Kruszka, Michele Caggana
Publicado no Genetics in Medicine Open (2024-01-01)