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