Publications by authors named "Lisa J Edelmann"

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Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.
Xiaoqiang Cai, Mohammad Arif, Haolei Wan, Ruth Kornreich, Lisa J Edelmann

Methods Mol Biol· August 2019

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Robust identification of mosaic variants in congenital heart disease.
Kathryn B Manheimer, Felix Richter, Lisa J Edelmann, Sunita L D'Souza, Lisong Shi

Hum Genet· February 2018

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Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
Alexander Kolevzon, Benjamin Angarita, Lauren Bush, A Ting Wang, Yitzchak Frank, Lisa J Edelmann

J Neurodev Disord· March 2015

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Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay.
Bryn D Webb, Rebecca J Scharf, Emily A Spear, Lisa J Edelmann, Annemarie Stroustrup

Expert Rev Mol Diagn· February 2015

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Role of copy number variants in structural birth defects.
Abigail E Southard, Lisa J Edelmann, Bruce D Gelb

Pediatrics· April 2012

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Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
Xonia Carvajal-Vergara, Ana Sevilla, Sunita L D'Souza, Yen-Sin Ang, Christoph Schaniel, Lisa J Edelmann

Nature· June 2010

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