Publications by authors named "Melissa Parra"

5Publications

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Authors:
Tyler Landrith Bing Li Ashley A Cass Blair R Conner Holly LaDuca Danielle B McKenna Kara N Maxwell Susan Domchek Nichole A Morman Christopher Heinlen Deborah Wham Cathryn Koptiuch Jennie Vagher Ragene Rivera Ann Bunnell Gayle Patel Jennifer L Geurts Morgan M Depas Shraddha Gaonkar Sara Pirzadeh-Miller Rebekah Krukenberg Meredith Seidel Robert Pilarski Meagan Farmer Khateriaa Pyrtel Kara Milliron John Lee Elizabeth Hoodfar Deepika Nathan Amanda C Ganzak Sitao Wu Huy Vuong Dong Xu Aarani Arulmoli Melissa Parra Lily Hoang Bhuvan Molparia Michele Fennessy Susanne Fox Sinead Charpentier Julia Burdette Tina Pesaran Jessica Profato Brandon Smith Ginger Haynes Emily Dalton Joy Rae-Radecki Crandall Ruth Baxter Hsiao-Mei Lu Brigette Tippin-Davis Aaron Elliott Elizabeth Chao Rachid Karam

NPJ Precis Oncol 2020 24;4. Epub 2020 Feb 24.

1Ambry Genetics, Aliso Viejo, CA USA.

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February 2020

Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.

Authors:
Tricia N Zion Bess Wayburn Sourat Darabi Devon Lamb Thrush Erica D Smith Tami Johnston Brissa Martin Kelly D F Hagman Melissa Parra Christian Antolik

Mol Genet Genomic Med 2019 05 21;7(5):e630. Epub 2019 Mar 21.

Ambry Genetics, Aliso Viejo, California.

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May 2019

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Authors:
Kelly D Farwell Layla Shahmirzadi Dima El-Khechen Zöe Powis Elizabeth C Chao Brigette Tippin Davis Ruth M Baxter Wenqi Zeng Cameron Mroske Melissa C Parra Stephanie K Gandomi Ira Lu Xiang Li Hong Lu Hsiao-Mei Lu David Salvador David Ruble Monica Lao Soren Fischbach Jennifer Wen Shela Lee Aaron Elliott Charles L M Dunlop Sha Tang

Genet Med 2015 Jul 13;17(7):578-86. Epub 2014 Nov 13.

Ambry Genetics, Aliso Viejo, California, USA.

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July 2015

Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

Authors:
Jennifer L Roberts Stephanie K Gandomi Melissa Parra Ira Lu Chia-Ling Gau Majed Dasouki Merlin G Butler

Case Rep Genet 2014 2;2014:264947. Epub 2014 Jun 2.

The University of Kansas Medical Center, Kansas City, KS 66160, USA.

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July 2014

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.

Authors:
Layla Shahmirzadi Elizabeth C Chao Erika Palmaer Melissa C Parra Sha Tang Kelly D Farwell Gonzalez

Genet Med 2014 May 10;16(5):395-9. Epub 2013 Oct 10.

Ambry Genetics, Aliso Viejo, California, USA.

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May 2014