732 posters, 2 sessions, 11 topics, 3542 authors, 923 institutions

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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

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

The Poster has not been submitted by the Author.

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

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

The Poster has not been submitted by the Author.

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

The Poster has not been submitted by the Author.

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