Matthew C. Dulik
YOU?
Author Swipe
View article: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease Open
Background and Objectives Improved detection sensitivity from combined Long-Range PCR (LR-PCR), Next-Generation Sequencing (NGS), and droplet digital PCR (ddPCR) to identify multiple large-scale mtDNA deletions (MLSMD) and quantify deletio…
View article: P640: Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs exome/genome sequencing as a first-tier test
P640: Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs exome/genome sequencing as a first-tier test Open
View article: P741: Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing
P741: Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing Open
View article: P164: Correlation of mitochondrial DNA content in muscle with genetic diagnosis*
P164: Correlation of mitochondrial DNA content in muscle with genetic diagnosis* Open
View article: P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period
P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period Open
Children's Hospital of Philadelphia (CHOP) is committed to improving diagnostics and therapeutics for children by leveraging genomic data. One project, "Baby Eagle", utilizes the CHOP-developed rapid Targeted Analysis of the Genome for Inf…
View article: P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing
P830: Detection and quantification of multiple deletions in mitochondria and heteroplasmy levels using PacBio long read sequencing Open
Multiple mitochondrial DNA (mtDNA) deletions refer to large scale mtDNA deletions of different sizes co-occurring in a single specimen. The presence of mtDNA deletions is typically associated with defects in nuclear genes that involve mtDN…
View article: P581: Multiple mitochondrial DNA deletions in patients with myopathy
P581: Multiple mitochondrial DNA deletions in patients with myopathy Open
View article: Molecular Diagnostic Outcomes from 700 Cases
Molecular Diagnostic Outcomes from 700 Cases Open
View article: Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond
Alternative Sample Matrices Supporting Remote Sample Collection during the Pandemic and Beyond Open
View article: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation Open
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextua…
View article: Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution Open
Powerful, recent advances in technologies to analyze the genome have had a profound impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing utilization of genome-wide testing such as chromosomal mic…
View article: Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes Open
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochond…
View article: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study Open
View article: Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss Open
View article: Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity
Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity Open
View article: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium Open
View article: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium Open
View article: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine Open
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinica…
View article: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium Open
Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult, and standards have been needed. In 2015, the Ame…
View article: Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin Open
View article: Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Actionable exomic incidental findings in 6503 participants: challenges of variant classification Open
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to esti…