Publications by authors named "Robert E Pyatt"

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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.
Praveen F Cherukuri, Melissa M Soe, David E Condon, Shubhi Bartaria, Kaitlynn Meis, Robert E Pyatt

BMC Med Genomics· March 2022

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Impact of variant reclassification in the clinical setting of cardiovascular genetics.
Rebecca E VanDyke, Sayaka Hashimoto, Ana Morales, Robert E Pyatt, Amy C Sturm

J Genet Couns· April 2021

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Understanding Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.
Shelly R Hovick, Naomi Tan, Lindsey Morr, Leigha Senter, Daniel D Kinnamon, Robert E Pyatt

J Health Commun· September 2020

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CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Elena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, Caroline Astbury, Emily Hansen-Kiss, Robert E Pyatt

Eur J Med Genet· January 2020

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Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, Aimee McKinney, Linda Erdman, Robert E Pyatt

Am J Med Genet A· April 2017

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Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix.
Melissa N Burnside, Robert E Pyatt, Anna Hughes, Peter B Baker, Christopher R Pierson

Pediatr Dev Pathol· March 2015

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Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Lauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, Shalini Reshmi, Julie M Gastier-Foster, Robert E Pyatt

Mol Genet Genomic Med· March 2015

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Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Lauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, Sayaka Hashimoto, Shalini Reshmi, Robert E Pyatt

Eur J Med Genet· July 2014

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Robert E Pyatt

Eur J Hum Genet· January 2014

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Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
Scott E Hickey, Sawona Biswas, Devon Lamb Thrush, Robert E Pyatt, Julie M Gastier-Foster

Eur J Med Genet· September 2013

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Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
Elena A Repnikova, Jill A Rosenfeld, Andrea Bailes, Cecilia Weber, Linda Erdman, Robert E Pyatt

Forensic Sci Int Genet· September 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Robert E Pyatt

Am J Hum Genet· February 2013

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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

Am J Med Genet A· November 2012

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Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Elena A Repnikova, Caroline Astbury, Shalini C Reshmi, Sarah N Ramsey, Joan F Atkin, Robert E Pyatt

Am J Med Genet A· August 2012

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Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.
Robert E Pyatt, Caroline Astbury

Clin Lab Med· December 2011

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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Michael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, Bregje W M van Bon, Yiping Shen, Robert E Pyatt

Am J Hum Genet· October 2011

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Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
Lisa Kalman, Jay Leonard, Norman Gerry, Jack Tarleton, Christina Bridges, Robert E Pyatt

J Mol Diagn· March 2011

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Newborn and carrier screening for spinal muscular atrophy.
Thomas W Prior, Pamela J Snyder, Britton D Rink, Dennis K Pearl, Robert E Pyatt

Am J Med Genet A· July 2010

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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, Robert E Pyatt

Am J Hum Genet· March 2010

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Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.
Robert E Pyatt, David C Mihal, Thomas W Prior

Clin Chem· November 2007

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A feasibility study for the newborn screening of spinal muscular atrophy.
Robert E Pyatt, Thomas W Prior

Genet Med· July 2006

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Mutation screening in juvenile polyposis syndrome.
Robert E Pyatt, Robert Pilarski, Thomas W Prior

J Mol Diagn· February 2006

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