Publications by authors named "Kate Shane"

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Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond and in Breast and Ovarian Cancer Patients.
Whitney Espinel, Marjan Champine, Heather Hampel, Joanne Jeter, Kevin Sweet, Kate Shane

Cancers (Basel)· May 2022

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Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer.
Mary Kathleen Ladd, Beth N Peshkin, Leigha Senter, Shari Baldinger, Claudine Isaacs, Kate Shane

Transl Behav Med· May 2020

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12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.
Fadel Alyaqoub, Robert E Pyatt, Andrea Bailes, Amanda Brock, Carol Deeg, Kate P Shane

Am J Med Genet A· November 2012

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Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Kate P Shane

J Clin Endocrinol Metab· February 2012

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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Blake C Ballif, Aaron Theisen, Jill A Rosenfeld, Ryan N Traylor, Julie Gastier-Foster, Kate Shane

Am J Hum Genet· March 2010

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Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Justine Coppinger, Donna McDonald-McGinn, Elaine Zackai, Kate Shane, Joan F Atkin

Hum Mol Genet· April 2009

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Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Christian R Marshall, Edwin J Young, Ariel M Pani, Mary-Louise Freckmann, Yves Lacassie, Kate Shane

Am J Hum Genet· July 2008

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