Publications

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism Ning…

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing Fliedner A;…

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the…

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome Chun‐An Chen,…

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Bo Yuan, Lei Wang,…

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases…

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected…

Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in…

Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods…

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Yuan B; Wang L;…

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis Joseph…

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis Kennedy…