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American Society of Human Genetics annual meeting

ASHG 2023

November 1 – 5
Washington, DC
Directions RSVP
Thursday
November 2
  • Poster Session 3:00 PM – 5:00 PM (4 Posters)
Friday
November 3
  • Poster Session 3:00 PM – 5:00 PM (2 Posters)
Saturday
November 4
  • Poster Session 2:15 PM – 4:15 PM (1 Poster)
  • Oral Presentations 10:30 AM – 10:45 AM
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Ambry is proud to join the world’s best and brightest in human genetics and genomics research at ASHG 2023, where we will present several posters and a have a platform presentation.

Thursday, November 2
3:00 PM – 5:00 PM
4 Posters
Session
PPB5158
The ClinGen-InSiGHT MUTYH Variant Curation Expert Panel: Lessons learned and a call to action
Abstract
Poster
Andreas Laner, Andrew Latchford, Chris Heinen, Cristina Rioja, Daniel Buchanan, Deborah Ritter, Emily AW Nadeau, Ester Borras, Felicia Hernandez, Finlay Macrae, Gabriel Capellá, Ian Frayling, Isabel Quintana, Jesús del Valle, Khalid Mahmood, Marc Greenblat, Marta Pineda, Matthew Johnson, Monica Thet, Peter Georgeson, Pilar Mur, Rhianna Urban, Sean Tavtigian, Sheila David, Sherry Yin, Susan Farrington, Thomas van Overeem Hansen, Wei Shen, Xuemei Shi
Session
PPB4908
Splice mutations and digital anomalies extend the genotypic and phenotypic spectrum of Kim-Gusella Syndrome in PHF21A patients
Abstract
Poster
Afif Ben-Mahmoud, Ahmad Abou Tayoun, Aia Elise Jonch, Boris Keren, Diego Lopergolo, Dmitriy Niyazov, Emilia K. Bijlsma, Fung Charlotte, Hyung-Goo Kim, Isabelle Rouvet, Jennifer Jacober, Joe Farris, Kristina Sorensen, Lilian L Cohen, Maria Irene Scarano, Marielle Alders, Meghan Towne, Owens Josh, Saskia M. Maas, Seong-In Hyun, Solveig Heide, Tova Hershkovitz, Vanda McNiven, Vijay Gupta
Friday, November 3
3:00 PM – 5:00 PM
2 Posters
Session
PPB4460
Building the ClinGen Pathogenicity Calculator Version 2.0 by leveraging ClinGen API Microservices
Abstract
Poster
Alan F. Rubin, Aleksandar Mihajlović, Aleksandar Milosavljevic, Alex Wagner, Alicia Byrne, Andrew R. Jackson, Anton Kodochygov, Arturo Alejandro Zuniga, Boško Jevtić, Christine G. Preston, Danielle Azzariti, Deborah I. Ritter, Dubravka Jevtić, Elizabeth McCormick, Erin Riggs, Garret Noble, Gloria Chueng, Jeremy Arbesfeld, Jessie Arce, Kevin Riehle, Keyang Yu, Kyle Ferriter, Lawrence Babb, Lishuang Shen, Malachi Griffith, Marina DiStefano, Mark E. Mandell, Marni J Falk, Matt W. Wright, Melissa Cline, Miroslav Milinkov, Neethu Shah, Nevena Vučinić, Novak Martinović, Obi Griffith, Sharon E. Plon, Steven Harrison, Teri E. Klein, Tierra Farris, Vi Dang, Xiaowu Gai
Saturday, November 4
2:15 PM – 4:15 PM
1 Poster
Saturday, November 4
10:30 AM – 10:45 AM
1 Presentation