Denise L. Perry

发表

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Stephen Tanner, Tina Hambuch, Sergii Ivakhno, 2018, bioRxiv.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing

Debra Skinner, Denise L. Perry, Barbara A. Bernhardt, 2016, Journal of Genetic Counseling.

Phenotypic and Imaging Spectrum Associated With WDR45.

Denise L. Perry, A. Vanderver, R. Taft, 2020, Pediatric neurology.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome

Denise L. Perry, A. Vanderver, R. Taft, 2021, Cold Spring Harbor molecular case studies.

A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships

Denise L. Perry, R. Taft, A. Coffey, 2022, Human mutation.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

Are physicians prepared for whole genome sequencing? a qualitative analysis

Denise L. Perry, R. Green, A. McGuire, 2016, Clinical genetics.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment

Denise L. Perry, R. Green, J. Karlawish, 2020, Alzheimer's & Dementia.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

Denise L. Perry, J. Rosenfeld, A. Reymond, 2018, Human mutation.

When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing

Denise L. Perry, R. Green, A. McGuire, 2017, AJOB empirical bioethics.

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Denise L. Perry, D. Bentley, R. Taft, 2023, Cell genomics.

Experiences with obtaining informed consent for genomic sequencing

Denise L. Perry, D. Skinner, B. Bernhardt, 2015, American journal of medical genetics. Part A.

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing

Denise L. Perry, K. Devriendt, R. Taft, 2022, American journal of medical genetics. Part A.

Best practices for the interpretation and reporting of clinical whole genome sequencing

David R. Murdock, Denise L. Perry, V. Jobanputra, 2022, NPJ genomic medicine.

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Denise L. Perry, Vladimir G. Gainullin, S. S. Ajay, 2019, npj Genomic Medicine.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Denise L. Perry, S. S. Ajay, D. Bentley, 2018, Genetics in Medicine.

Participants and Study Decliners’ Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing

Denise L. Perry, R. Green, A. McGuire, 2016, Journal of empirical research on human research ethics : JERHRE.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing

Denise L. Perry, R. Green, A. McGuire, 2017, AJOB empirical bioethics.

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

Denise L. Perry, A. Moreno-De-Luca, Amanda R. Clause, 2020, Molecular Syndromology.

Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes

Denise L. Perry, R. Taft, A. Kesari, 2023, American Journal of Medical Genetics. Part A.

A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships

Denise L. Perry, R. Taft, A. Coffey, 2021, Human mutation.

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Denise L. Perry, A. Vanderver, A. Serretti, 2020, Journal of Medical Genetics.