M. Kelly

发表

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

D. Ledbetter, M. Oetjens, A. Sturm, 2019, Nature Communications.

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Heidi L Rehm, Birgit H Funke, H. Rehm, 2013, The Journal of molecular diagnostics : JMD.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

Brandon K. Fornwalt, David L. Birtwell, Michael E. Hall, 2019, Circulation.

Clinical outcomes of a genomic screening program for actionable genetic conditions

Laney K. Jones, Marc S. Williams, D. Ledbetter, 2020, Genetics in Medicine.

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

A. Stuenkel, M. Kelly, J. Lerner-Ellis, 2014, Molecular genetics and metabolism.

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort

A. Sturm, A. Buchanan, M. Kelly, 2022, BMC Medicine.

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

T. Cowan, N. Longo, Y. Wang, 2000, Human mutation.

Prevalence and Electronic Health Record-based Phenotype of Loss-of-function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-associated Genes.

Brandon K. Fornwalt, Dustin N. Hartzel, Eric D. Carruth, 2019, Circulation. Genomic and precision medicine.

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

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

The Role of a Statewide Critical Care Coordination Center in the Coronavirus Disease 2019 Pandemic—and Beyond

T. Scalea, S. Galvagno, M. Kelly, 2021, Critical care explorations.

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

G. Cooper, B. Korf, K. Bowling, 2022, Genome Medicine.

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Matthew S. Lebo, J. Ware, D. Macaya, 2021, The Journal of molecular diagnostics : JMD.

The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta‐analysis

J. Natoli, A. Cirino, M. Kelly, 2022, Journal of genetic counseling.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Nature Communications.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Scientific Reports.

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Sivakumar Gowrisankar, Matthew S. Lebo, Heidi L. Rehm, 2014, Genetics in Medicine.

Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis

Laney K. Jones, Ilene G. Ladd, Nephi A. Walton, 2021, Circulation. Genomic and precision medicine.

The genetic architecture of Plakophilin 2 cardiomyopathy

R. Nussbaum, L. Mestroni, C. Basso, 2021, Genetics in Medicine.

Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants

Brandon K. Fornwalt, Christopher D. Nevius, Eric D. Carruth, 2021, Circulation. Genomic and precision medicine.

A study of elective genome sequencing and pharmacogenetic testing in an unselected population

R. Myers, D. Bick, M. Cochran, 2021, Molecular genetics & genomic medicine.

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

Marc S. Williams, Marc S. Williams, M. Meyer, 2020, BMC Pediatrics.

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

G. Cooper, K. Bowling, E. Kenny, 2023, bioRxiv.

Reducing Sanger confirmation testing through false positive prediction algorithms

E. Lyon, J. Holt, M. Wilk, 2020, Genetics in Medicine.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project

D. Ledbetter, C. Martin, M. Oetjens, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

B. Funke, B. Darras, M. Kelly, 2013, BMC Medical Genetics.

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis

J. Natoli, M. Kelly, J. Malinowski, 2022, Open Heart.

Genetic Sex Validation for Sample Tracking in Clinical Testing

N. Lennon, R. Gibbs, E. Boerwinkle, 2021, bioRxiv.

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records

Brandon K. Fornwalt, H. Kirchner, B. Fornwalt, 2021, JACC. CardioOncology.

A systematic approach to assessing the clinical significance of genetic variants

Trevor J Pugh, H. Rehm, T. Pugh, 2013, Clinical genetics.

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population

Brandon K. Fornwalt, Eric D. Carruth, H. Calkins, 2021, medRxiv.

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

H. Kirchner, M. Oetjens, A. Sturm, 2023, Journal of the American Heart Association.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.