R. Pyatt

发表

Comprehensive molecular characterization of human colon and rectal cancer

Steven J. M. Jones, Joshua M. Stuart, Brian D. O’Connor, 2012, Nature.

A feasibility study for the newborn screening of spinal muscular atrophy

R. Pyatt, T. Prior, 2006, Genetics in Medicine.

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

R. Pyatt, T. Prior, D.C. Mihal, 2007, Clinical chemistry.

Newborn and carrier screening for spinal muscular atrophy

D. Pearl, R. Pyatt, S. Hashimoto, 2010, American journal of medical genetics. Part A.

Comprehensive molecular portraits of human breast tumors

Steven J. M. Jones, Andrew H. Beck, Joshua F. McMichael, 2012, Nature.

Impact of variant reclassification in the clinical setting of cardiovascular genetics

R. Pyatt, S. Hashimoto, A. Sturm, 2020, Journal of genetic counseling.

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11

R. Pyatt, S. Hashimoto, Christine M Shuss, 2017, American journal of medical genetics. Part A.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

J. Gastier-Foster, R. Pyatt, K. McBride, 2013, European Journal of Human Genetics.

Functional heterogeneity of human CD34(+) cells isolated in subcompartments of the G0 /G1 phase of the cell cycle.

R. Pyatt, E. Srour, S. Rice, 1997, Blood.

Masked Hypodiploidy: Hypodiploid Acute Lymphoblastic Leukemia (ALL) in Children Mimicking Hyperdiploid ALL: A Report From the Children's Oncology Group (COG) AALL03B1 Study.

M. Loh, J. Gastier-Foster, N. Heerema, 2009 .

Subcompartments of the G0 /G1 Phase of the Cell Cycle Functional Heterogeneity of Human CD34+ Cells Isolated in

R. Pyatt, E. Srour, S. Rice, 2013 .

Phase of the Cell Cycle 1 /G 0 Subcompartments of the G Cells Isolated in + Functional Heterogeneity of Human CD34

R. Pyatt, E. Srour, S. Rice, 2011 .

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Novel diagnostic features of dysferlinopathies

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, Muscle & nerve.

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

J. Gastier-Foster, R. Pyatt, S. Hashimoto, 2018, European journal of medical genetics.

Mutation screening in juvenile polyposis syndrome.

R. Pyatt, T. Prior, R. Pilarski, 2006, The Journal of molecular diagnostics : JMD.

Integrated genomic characterization of endometrial carcinoma

Steven J. M. Jones, Joshua M. Stuart, Richard A. Moore, 2013, Nature.

A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

L. Kunkel, J. Gastier-Foster, J. Mendell, 2015, Molecular Genetics & Genomic Medicine.

Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients

J. Gastier-Foster, T. Slavin, R. Pyatt, 2012, American journal of medical genetics. Part A.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

J. Rosenfeld, B. V. van Bon, M. Fichera, 2011, American journal of human genetics.

Variability in pathogenicity prediction programs: impact on clinical diagnostics

Sayaka Hashimoto, Lauren C Walters-Sen, Devon Lamb Thrush, 2014, Molecular genetics & genomic medicine.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

R. Pyatt, G. Herman, Emily Hansen-Kiss, 2019, European journal of medical genetics.

Functional Heterogeneity of Human CD34+ Cells Isolated in Subcompartments of the G0 /G1 Phase of the Cell Cycle

R. Pyatt, E. Srour, S. Rice, 1997 .

Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.

C. Adebamowo, R. Chadwick, A. de la Chapelle, 1999, The American journal of pathology.

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

R. Pyatt, C. Astbury, 2011, Clinics in laboratory medicine.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2010, American journal of human genetics.

Locoregional MYCN‐amplified neuroblastoma

J. Gastier-Foster, R. Pyatt, C. Lavarino, 2012, Pediatric blood & cancer.

Orderly Process of Sequential Cytokine Stimulation Is Required for Activation and Maximal Proliferation of Primitive Human Bone Marrow CD34+ Hematopoietic Progenitor Cells Residing in G0

R. Pyatt, E. Srour, S. Rice, 1997 .

Understanding BRCA Mutation Carriers’ Preferences for Communication of Genetic Modifiers of Breast Cancer Risk

A. Toland, S. Hovick, R. Pyatt, 2019, Journal of health communication.

Use of merocyanine 540 for the isolation of quiescent, primitive human bone marrow hematopoietic progenitor cells.

K. Cornetta, R. Pyatt, R. Abonour, 1999, Journal of hematotherapy.

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

J. Rosenfeld, L. Shaffer, J. Gastier-Foster, 2013, Forensic science international. Genetics.

Complex Brain Malformations Associated with Chromosome 6q27 Gain that Includes THBS2, Which Encodes Thrombospondin 2, an Astrocyte-Derived Protein of the Extracellular Matrix

R. Pyatt, P. Baker, C. Pierson, 2015, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

J. Gastier-Foster, R. Pyatt, S. Hashimoto, 2014, European journal of medical genetics.

Assessment of proliferative and colony-forming capacity after successive in vitro divisions of single human CD34+ cells initially isolated in G0.

R. Pyatt, E. Srour, S. Rice, 1998, Experimental hematology.

Orderly process of sequential cytokine stimulation is required for activation and maximal proliferation of primitive human bone marrow CD34+ hematopoietic progenitor cells residing in G0.

R. Pyatt, E. Srour, S. Rice, 1997, Blood.

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

Tengyu Ma, N. Gerry, J. Gastier-Foster, 2011, The Journal of molecular diagnostics : JMD.

Linkage disequilibrium mapping in trisomic populations: Analytical approaches and an application to congenital heart defects in Down syndrome

Eleanor Feingold, Lora J H Bean, Lora J. H. Bean, 2004, Genetic epidemiology.

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

R. Chadwick, Cheryl Johnson, A. de la Chapelle, 2001, Journal of Medical Genetics.

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

J. Gastier-Foster, R. Pyatt, S. Reshmi, 2012, American Journal of Medical Genetics. Part A.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy

R. Pyatt, S. Hashimoto, S. Santoro, 2017, Cytogenetic and Genome Research.

2010 Publications - The Biopathology Center

P. Stankiewicz, J. Gastier-Foster, J. Mendell, 2010 .

Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

R. Pyatt, T. Prior, P. Snyder, 2013, American journal of medical genetics. Part A.

FIRST: A Model for Developing New Science Faculty.

L. G. Morris, R. Pyatt, D. Eaton, 2005 .

Impaired regeneration in LGMD2A supported by increased PAX7‐positive satellite cell content and muscle‐specific microrna dysregulation

J. Gastier-Foster, J. Mendell, R. Pyatt, 2013, Muscle & nerve.

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

Cornelius F. Boerkoel, Lynn K. Carmichael, Catherine Hajek, 2021, BMC medical genomics.

Comprehensive molecular portraits of human breast tumours

Steven J. M. Jones, Joshua F. McMichael, Joshua M. Stuart, 2013 .

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49locus

R. Chadwick, A. de la Chapelle, R. Pyatt, 2001, Journal of medical genetics.

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

J. Gastier-Foster, R. Pyatt, J. Atkin, 2013, European journal of medical genetics.