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732 posters,
2 sessions,
11 topics,
3542 authors,
923 institutions
ePostersLive®
by SciGen® Technologies S.A. All rights reserved.
ACMG Annual Clinical Genetics Meeting 2017
March 21-25, 2017, Phoenix Convention Center Phoenix, Arizona
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University of Pennsylvania
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131
Novel GREM1 duplication identified in patient with polyposis
Danielle McKenna
,
Jeroen Van Den Akker
,
Krishna Pant
,
Zhenghua Li
,
Lauren Ryan
,
Robert O'Connor
,
Payal Shah
,
Anil Rustgi
University of Pennsylvania Abramson Cancer Center
,
Color Genomics
,
University of Pennsylvania
Poster Presenter:
Danielle McKenna
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350
Atypical Werner Syndrome Suggestive of Synergistic Effects of Werner, Perilipin, and a Rare Balanced Translocation
Masako Ueda
,
Deanna Church
,
Hakon Hakonarson
,
Fernanda Mafra
,
Adrian Fehr
,
Charlly Kao
,
Stephanie DerOhannessian
,
Tracey Sikora
,
Daniel Rader
,
Teo Tran
,
Renata Pellegrino
,
James Garifallou
,
Courtney Kaminski
,
Robert Hegele
,
Adam McIntyre
,
Fengxiang Wang
,
Tiancheng Wang
,
Sarah Garcia
University of Pennsylvania
,
10X genomics
,
Center For Applied Genomics - The Children's Hospital of Philadelphia
,
10X Genomics, Inc.
,
Robarts Research Institute, Western University
,
10X Genomics, Inc
Poster Presenter:
Masako Ueda
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375
Elevated Risk of Autism Spectrum Disorder in Children with Atypical Deletions and Duplications of 22q11.2 Including LCR A-B vs B-D
Tara Wenger
,
Donna McDonald-McGinn
,
John Carey
,
Elaine Zackai
,
Caitlin Clements
,
Lauren DePolo
,
Beverly Emanuel
,
Robert Schultz
Seattle Children's Hospital
,
Children's Hospital of Philadelphia
,
University of Utah School of Medicine
,
The Children's Hospital of Philadelphia
,
University of Pennsylvania
Poster Presenter:
Tara Wenger
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524
An Overview of REVEAL-SCAN: Risk Education and Evaluation for Alzheimer’s Disease – the Study of Communicating Amyloid Neuroimaging
Sheila Sutti
,
J. Scott Roberts
,
Eleanor Steffens
,
Kristin Harkins
,
L. Adrienne Cupples
,
Kathleen Welsh-Bohmer
,
Jason Karlawish
,
Robert Green
Brigham and Women’s Hospital
,
University of Michigan School of Public Health
,
University of Pennsylvania
,
Boston University
,
Duke University
,
Brigham and Women’s Hospital and Harvard Medical School
Poster Presenter:
Sheila Sutti
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684
Exome Sequencing of Individuals with Testicular Germ Cell Tumor and Family History Reveals Novel Germline Variants
Louise Pyle
,
Katherine Nathanson
,
Douglas Stewart
,
Mark Greene
,
Rama Godse
,
Peter Kanetsky
,
David Vaughn
,
Bradley Wubbenhorst
,
Kurt D'Andrea
,
Benita Weathers
,
Jennifer Loud
Children's Hospital of Philadelphia
,
University of Pennsylvania
,
National Cancer Institute
,
Moffitt Cancer Center
Poster Presenter:
Louise Pyle
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815
Ad Hoc Analysis of a Phase 1/2 Trial for Intrathecal Therapy with VTS-270 (2-Hydroxypropyl-ß-Cyclodextrin) for Niemann-Pick Disease Type C1
Simona Bianconi
,
Ben Machielse
,
John McKew
,
Daniel Ory
,
Elizabeth Ottinger
,
Elizabeth Berry-Kravis
,
Forbes D Porter
,
Nicole Y Farhat
,
Charles Vite
,
Steven Walkley
,
Lisa Weissfeld
Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
,
Vtesse
,
NCATS, NIH
,
Washington University
,
Rush University Medical Center
,
University of Pennsylvania
,
Albert Einstein College of Medicine
,
Statistics Collaborative
Poster Presenter:
Simona Bianconi
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