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

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Hakon Hakonarson

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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

626

A PITX1 variant in a large pedigree with dominant lower extremity anomalies

Yiran Guo, Matthew Deardorff, Hakon Hakonarson, Wudbhav Sankar

The Children's Hospital of Philadelphia, Center For Applied Genomics - The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania

Poster Presenter: Yiran Guo

689

High-Throughput Automation of the 10x Genomics® Chromium™ Workflow for Linked-Read Whole Exome Sequencing applied for clinical panels and structural variation.

Renata Pellegrino, Hakon Hakonarson, Mike Benway, Paulina Kocjan, Brian Gerwe, Fernanda Mafra, Christina Siebert, Adrian Fehr

Center For Applied Genomics - The Children's Hospital of Philadelphia, PerkinElmer, Inc, 10X Genomics, Inc.

Poster Presenter: Renata Pellegrino

The Poster has not been submitted by the Author.

718

Resolving the breakpoints mapping complexities of conventional exome using 10XGenomics approach

Leslie Kulikowski, Deanna Church, Hakon Hakonarson, Fernanda Mafra, Adrian Fehr, GIL NOVO FILHO, Renata Pellegrino, James Garifallou, Courtney Kaminski, Michael Gonzalez, Lifeng Tian, Charlly Kao, Sarah Garcia

10X genomics, Center For Applied Genomics - The Children's Hospital of Philadelphia, 10X Genomics, Inc., Universidade de Sao Paulo, 10X Genomics, Inc

Poster Presenter: Leslie Kulikowski