Publications by authors named "Gayle Patel"

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Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?
Kanhua Yin, Yuxi Liu, Basanta Lamichhane, John F Sandbach, Gayle Patel

Ann Surg Oncol· July 2020

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Tyler Landrith, Bing Li, Ashley A Cass, Blair R Conner, Holly LaDuca, Gayle Patel

NPJ Precis Oncol· February 2020

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A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
Saundra S Buys, John F Sandbach, Amanda Gammon, Gayle Patel, John Kidd

Cancer· May 2017

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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Claudia M B Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B Ramocki, Gayle S Patel

Am J Hum Genet· November 2014

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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Martin H Berryer, Fadi F Hamdan, Laura L Klitten, Rikke S Møller, Lionel Carmant, Gayle Simpson Patel

Hum Mutat· February 2013

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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Patrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, Patricia Eng, Jayant Shenai, Gayle S Patel

Mol Cytogenet· April 2012

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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
Ayman W El-Hattab, Ping Fang, Weihong Jin, Jeffrey R Hughes, James B Gibson, Gayle S Patel, Ankita Patel

J Med Genet· December 2011

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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.
Kanwal Qidwai, David M Pearson, Gayle Simpson Patel, Barbara R Pober, Ladonna L Immken

Am J Med Genet A· June 2010

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
Marwan Shinawi, Christian P Schaaf, Samarth S Bhatt, Zhilian Xia, Ankita Patel, Gayle Simpson Patel

Nat Genet· December 2009

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Ayman W El-Hattab, Teresa A Smolarek, Martha E Walker, Elizabeth K Schorry, LaDonna L Immken, Gayle Patel, Ankita Patel

Hum Genet· October 2009

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