Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Muscle Physiology and Disorders, Genomic variations and chromosomal abnormalities, and Cancer Genomics and Diagnostics.
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
A single NGS‐based assay covering the entire genomic sequence of the <i>DMD</i> gene facilitates diagnostic and newborn screening confirmatory testing
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients
Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms
Inferring the effect of genomic variation in the new era of genomics
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
The Case for Laboratory Developed Procedures
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Good laboratory practice for clinical next-generation sequencing informatics pipelines