Meredith S. Wright
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Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial Open
Introduction In the last 60 years, newborn bloodspot screening (NBS) has expanded as a public health intervention from a single severe childhood genetic disease (SCGD) to up to as many as 80 SCGD and testing of ~40 million newborns/year wo…
P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation* Open
Quantitative understanding of the causes of infant mortality shapes public health, surveillance, and research investments. However, the contribution of single-locus genetic diseases to infant mortality is poorly understood. Previously, we …
View article: P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* Open
Newborn screening (NBS) dramatically improves outcomes in selected, severe, childhood disorders by identification and treatment at or before symptom onset. We are developing a highly scalable precision medicine delivery platform for all tr…
View article: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Open
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants i…
View article: Report of two cases of <scp>Schaaf‐Yang</scp> syndrome: Same genotype and different phenotype
Report of two cases of <span>Schaaf‐Yang</span> syndrome: Same genotype and different phenotype Open
Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnos…
Fc-competent multispecific PDL-1/TIGIT/LAG-3 antibodies potentiate superior anti-tumor T cell response Open
The landscape of current cancer immunotherapy is dominated by antibodies targeting PD-1/PD-L1 and CTLA-4 that have transformed cancer therapy, yet their efficacy is limited by primary and acquired resistance. The blockade of additional imm…
View article: Report of Two cases of Schaaf-Yang Syndrome: Same Genotype, Different Phenotype
Report of Two cases of Schaaf-Yang Syndrome: Same Genotype, Different Phenotype Open
Report of Two cases of Schaaf-Yang Syndrome: Same Genotype, Different Phenotype Ana Maria Rodriguez,a MD, Katherine Schain,a MS, CGC, Parul Jayakar,aMD,MS,FACMG, Meredith S. Wright,b,c PhD., Shimul Chowdhury,b PhD., Daria Salyakina,ePhD.a …
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing Open
Importance Understanding the causes of infant mortality shapes public health, surveillance, and research investments. However, the association of single-locus (mendelian) genetic diseases with infant mortality is poorly understood. Objecti…
View article: Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding. Open
We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital h…
View article: A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Open
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-gen…
View article: An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases Open
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with thes…
A novel IgG Fc by computer-aided design enhances heavy-chain heterodimerization in bi- or trispecific antibodies Open
The classical `knob-into-holes' (KIH) strategy (knob(T366Y)/hole (Y407T)) has successfully enhanced the heterodimerization of a bispecific antibody (BsAb) resulting in heterodimer formation up to 92% of protein A (ProA)-purified protein po…
First-in-class trispecific VHH-Fc based antibody with potent prophylactic and therapeutic efficacy against SARS-CoV-2 and variants Open
SARS-CoV-2 and its variants have persisted in this ongoing COVID-19 pandemic. While the vaccines have greatly reduced the COVID-19 cases, hospitalizations, and death, about half of the world remain unvaccinated due to various reasons. Furt…
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome Open
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Capsule carbohydrate structure determines virulence in Acinetobacter baumannii Open
Acinetobacter baumannii is a highly antibiotic-resistant bacterial pathogen for which novel therapeutic approaches are needed. Unfortunately, the drivers of virulence in A . baumannii remain uncertain. By comparing genomes among a panel of…
View article: Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Additional file 1 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Open
Additional file 1: Supplementary Tables S1-S12. Table S1. Cohorts utilized in current study. Table S2. Pathogenicity predictions by gnomAD and GeVIR for each hnRNP. Table S3. Significant p values of two-way ANOVA between cell type and tran…
Genomic and Transcriptomic Analyses of Colistin-Resistant Clinical Isolates of Klebsiella pneumoniae Reveal Multiple Pathways of Resistance Open
The emergence of multidrug-resistant (MDR) Klebsiella pneumoniae has resulted in a more frequent reliance on treatment using colistin. However, resistance to colistin (Col r ) is increasingly reported from clinical settings. The genetic me…
Population Structure of KPC-Producing Klebsiella pneumoniae Isolates from Midwestern U.S. Hospitals Open
Genome sequencing of carbapenem-resistant Klebsiella pneumoniae isolates from regional U.S. hospitals was used to characterize strain diversity and the bla KPC genetic context. A phylogeny based on core single-nucleotide variants (SNVs) su…
Characterization of Pneumococcal Colonization Dynamics and Antimicrobial Resistance Using Shotgun Metagenomic Sequencing in Intensively Sampled South African Infants Open
Background: There remains a significant proportion of deaths due to pneumococcal pneumonia in infants from low- and middle-income countries despite the marginal global declines recorded in the past decade. Monitoring changes in pneumococca…
Development of humanized tri-specific nanobodies with potent neutralization for SARS-CoV-2 Open
SARS-CoV-2 is a newly emergent coronavirus that causes COVID-19, which has adversely impacted human health and has led to a pandemic. There is an unmet need to develop therapies against SARS-CoV-2 due to its severity and lack of treatment …