Lishuang Shen

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

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.

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Simultaneous identification of clinically relevant mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country.

Early pandemic molecular diversity of SARS-CoV-2 in children.

Multidrug-resistant Pseudomonas aeruginosa in healthcare facilities in Port-au-Prince, Haiti.

Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity.

Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.

Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.

Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.

High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.

Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.