American College of Medical Genetics and Genomics annual meeting
Poster # n/a
Tuesday, March 8, 2016 1:05 - 3:15pm Abstract Poster
Steven M. Harrison, Jill Dolinsky, Lisa Vincent, Amy Knight Johnson, Danielle R. Azzariti, Tina Pesaran, Elizabeth Chao, Soma Das, Sherri Bale, Heidi L. Rehm. Clinical laboratories implement the ACMG/AMP guidelines to resolve differences in variant interpretations submitted to ClinVar..
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Abstract Poster
Zöe Powis, Holly LaDuca, Tripti Paudyal, Shuwei Li, Kelly Hagman, Sha Tang. Clinical Utility of Diagnostic Exome Sequencing in Hereditary Cancer.
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Abstract Poster
Ira Lu, Tami Johnston, Jade Tinker, Linbo Yu, Melissa Dempsey, Sara Calicchia, Jill Dolinsky, Brigette Tippin Davis. Family Matters: How Segregation Studies Reclassify Variants in Thoracic Aortic Aneurysm and Dissection Multigene Panels.
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Abstract Poster
Kelly Fulk, Emily Dalton, Amal Yussuf, Rachel McFarland, Holly LaDuca, Jill Dolinsky. Increasing Uptake of Hereditary Cancer Multi-gene Panel Testing: Overcoming Initial Barriers.
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Abstract Poster
Lan Qin, Robert Huether, Sara Calicchia, Tami Johnston, Jade Tinker, Arthur Dean, Tina Pesaran, Hsiao-Mei Lu, Brigette Tippin Davis, Jill Dolinsky. Landscape of Variants of Unknown Significance in FBN1 Identified in Patients with TAAD and Marfan Syndrome.
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Abstract
Tiffiney Carter, Shannon Mulligan, Lauren Westerfield, Ignatia Van den Veyver. Low incidence of abnormal cell free fetal DNA testing in the presence of isolated sonographic soft markers for aneuploidy.
Poster # n/a
Tuesday, March 8, 2016 11:00 - 12:00pm Poster
Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkar, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Greg M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carrie Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm. Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium.
Session # n/a
Tuesday, March 8, 2016 3:00 - 6:00pm Abstract
Katherine Helbig, Iris de Lange, Sarah Weckhuysen, Rikke Møller, Milen Velinov, Laura Farach, Eric Marsh, Ingo Helbig, Sha Tang, Heather Mefford, Wim Van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien de Kovel, Juliette Piard, Berge Minassian, Marjan Nezarati, André Pessoa, Aurelia Jacquette, Ruben van 't Slot, Lionel Van Maldergem, Eva Brilstra, Bobby Koeleman. De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy.
Session # tbd
Tuesday, March 8, 2016 3:00 - 5:25pm Abstract
Jill Dolinsky. Rising to the Level of Clinical Importance: Challenges to adjudicating and reporting variants discovered with genomic analysis.
Session # tbd
Friday, March 11, 2016 2:00 - 3:00pm Abstract Presentation
Christina L. Alamillo, Zöe Powis, Kelly Farwell, Joyce A. Kobori, Jazmine Jung, Sha Tang, Elizabeth C. Chao. Clinical diagnostic exome sequencing identified compound heterozygous ASPM gene alterations in a fetus with marked microcephaly.