J. Platt

发表

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014, Genetics in Medicine.

Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanisms

A. Raja, E. Ashley, G. Berry, 2020, bioRxiv.

Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation.

E. Ashley, Anthony Trela, M. Perez, 2019, Circulation. Genomic and precision medicine.

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study

D. Nickerson, C. Bustamante, E. Ashley, 2017, Circulation. Cardiovascular genetics.

Variant Interpretation for Dilated Cardiomyopathy

D. Nickerson, H. Rehm, M. Dorschner, 2020, Circulation. Genomic and precision medicine.

A Person-Centered Approach to Cardiovascular Genetic Testing.

J. Platt, 2020, Cold Spring Harbor perspectives in medicine.

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors

J. Platt, Ambreen Khan, Chana Wiesman, 2020, Journal of genetic counseling.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Matthew S. Lebo, W. Chung, M. Wheeler, 2020, Human mutation.

Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

J. Platt, M. Pasquali, K. Osann, 2013, Clinical genetics.

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia

G. Enns, J. Platt, Rachel Cox, 2016, Journal of Genetic Counseling.

Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease.

J. Platt, C. Reuter, 2017, Circulation. Cardiovascular genetics.

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

M. Sharpley, L. Moore, D. Wallace, 2012, Proceedings of the National Academy of Sciences.

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

E. Puffenberger, K. Strauss, D. Morton, 2013, Proceedings of the National Academy of Sciences.

Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

J. Platt, M. Zaragoza, S. Hakim, 2012, Molecular genetics and metabolism.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Gregory M. Enns, Lance H. Rodan, Wendy K. Chung, 2015, Cold Spring Harbor molecular case studies.

Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms

A. Raja, E. Ashley, G. Berry, 2021, Circulation. Genomic and precision medicine.

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.

Li Chieh Chen, G. Enns, J. Platt, 2012, Mitochondrion.

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

Megan E. Grove, Colleen Caleshu, C. Caleshu, 2017, Genetics in Medicine.

Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms

G. Enns, J. Platt, Rachel Cox, 2014, Journal of Genetic Counseling.

Clinical whole-exome sequencing: are we there yet?

Jonathan A. Bernstein, Gregory M. Enns, Paldeep S. Atwal, 2014, Genetics in Medicine.

Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway

Michael P. Snyder, A. Need, D. Goldstein, 2014 .

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

L. Moore, D. Wallace, J. Platt, 2012, Proceedings of the National Academy of Sciences.