American College of Medical Genetics and Genomics annual meeting
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Sarah Swain Barnett, Tami Johnston, Brigette Tippin Davis, Catherine Harris. TGFBR2 novel variant, p.Y470D, likely disease causing in large Loeys-Dietz kindred.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Dima El-Khechen, Deepali Shinde, Katherine Helbig, Mark E. Nunes, Sha Tang. A novel gene not so novel anymore: Personalized in vitro model and further evidence for association of DNM1 with early infantile epileptic encephalopathy through clinical exome sequencing.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Tami Johnston, Jill Dolinsky, Jennifer Thompson, Tricia Zion, Rachel McFarland, Jade Tinker, Ira Lu, Melissa Dempsey, Brigette Tippin Davis. A retrospective analysis of multigene panel testing for Marfan syndrome, aneurysm, and related disorders: Diagnostic yield and cardiac phenotypic spectrum.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
C. Michael Osborne, Christina L. Alamillo, Zöe Powis, Carrie Cain, Patricia G. Wheeler, Sha Tang. Clinical diagnostic exome sequencing identifies a maternally inherited 89 base pair deletion in the UBE3A gene associated with Angelman syndrome.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract
Elaine Chen Weltmer, Stephany Tandy, Holly LaDuca, Brandon Smith, Jennifer Thompson, Rachel McFarland, Elizabeth Chao. Comparison of clinical features in PTEN positive patients ascertained by single-gene testing versus hereditary cancer multi-gene panel testing.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Cameron Mroske, Carrie Cain, Kelly Farwell, Dima El-Khechen, Robert Huether, Sha Tang, Patricia Wheeler. Diagnostic exome sequencing (DES) of a female patient with features of Autism Spectrum Disorder (ASD) identifies a novel gene, RYR3, which lies at the human 15q14 schizophrenia/autism susceptibility locus.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Vruti Mehta, Anne Bandholz, Elena Rosenberg, Taylor Cain, Dima El-Khechen, Layla Shahmirzadi, Kelly Farwell, Melissa Parra, Zöe Powis, Christina L. Alamillo, Katherine Helbig, Christian Gund, Cameron Mroske, Deepali N. Shinde, Wendy Alcaraz, Kelly Radtke, Brigette Tippin Davis, Jianbo James Song, Sha Tang, Elizabeth Chao. Diagnostic exome sequencing detection rates in patients with prior uninformative microarray results.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Sarah Witherington, Cameron Mroske, Adele Schneider, Zöe Powis, Brigette Tippin Davis. Diagnostic exome sequencing identifies alterations in GLI2 and PTCH1 in a previously undiagnosed patient with holoprosencephaly, seizures, and hypopituitarism.
Poster # none
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Christina L. Alamillo, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Vruti Mehta, Katherine Helbig, Christian Gund, Marilyn Tsang, Brigette Tippin Davis, Sha Tang, Elizabeth Chao. Diagnostic exome sequencing positively identified relevant alterations in half of prenatal samples tested.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Sha Tang, Dima El-Khechen, Zöe Powis, Layla Shahmirzadi, Cameron Mroske, Deepali Shinde, Kelly Radtke, Wendy Alcaraz, Brigette Tippin Davis, Jianbo James Song, Elizabeth Chao, Kelly Farwell Hagman. Diagnostic exome sequencing: Diagnostic yield, novel gene discovery, expected and unexpected results..
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Wendy Alcaraz, Deepali Shinde, Sha Tang, Julie Cohen, Ali Fatemi. Diagnostic whole exome sequencing identifies alterations in the novel gene, WARS2, in a patient with severe infantile-onset leukoencephalopathy.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Elizabeth Chao, Jefferey Chen, Hsiao-Mei Lu, Wenbo Mu, Huy Vuong, Holly LaDuca, Kelly Farwell, Layla Shahmirzadi, Sha Tang. Exome sequencing covers >99% of mutations identified on targeted next-generation sequencing panels.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Jade Tinker, Heather Newman, Sarah E Witherington, Kendra Waller, Jennifer Thompson, Jill Dolinsky, Chia-Ling Gau, Brigette Tippin Davis. Multigene testing for Primary Ciliary Dyskinesia (PCD): Diagnostic yield and phenotypic summary.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Kelly Radtke, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Christina L. Alamillo, Christian Gund, Vruti Mehta, Marilyn Tsang, Cameron Mroske, Deepali Shinde, Wendy Alcaraz, Katherine Helbig, Brigette Tippin Davis, Jianbo James Song, Elizabeth Chao, Sha Tang. Multiple molecular diagnoses identified through diagnostic exome sequencing.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Abstract Poster
Holly LaDuca, Jennifer Geurts, Morgan Depas, Rachel McFarland, Shuwei Li, Emily Hallberg, Fergus J. Couch, Elizabeth Chao. Observation of cancers other than breast in monoallelic ATM gene mutation carriers and their families.
Poster # tbd
Tuesday, March 24, 2015 12:00 - 12:00pm Poster
Zöe Powis, Kelly Farwell Hagman, Layla Shahmirzadi, Dima El-Khechen, Christina L. Alamillo, Wendy Alcaraz, Elena Rosenberg, Katherine Helbig, Christian Gund, Vruti Mehta, Marilyn Tsang, Cameron Mroske, Deepali Shinde, Kelly Radtke, Shuwei Li, Jianbo James Song, Brigette Tippin Davis, Elizabeth Chao, Sha Tang. The likelihood of positive results from diagnostic exome sequencing is not predicted by ordering physician specialty.