Wendy K. Chung
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Author Swipe
View article: Impact of Genomic Sequencing Information on Physicians’ Treatment Recommendations for Children with Congenital Heart Disease
Impact of Genomic Sequencing Information on Physicians’ Treatment Recommendations for Children with Congenital Heart Disease Open
View article: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database Open
View article: Digital health technology use in clinical trials of rare diseases: a systematic review
Digital health technology use in clinical trials of rare diseases: a systematic review Open
Our findings reveal a growing trend toward digital integration in rare disease trials to support decentralized, scalable, and patient-centered research models. We propose a "4A" conceptual framework-Accessibility, Agility, Awareness, and A…
View article: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy Open
Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies. Despite progress in genetic sequencing, around a quarter of patients remain unsolved. Here, we identify 16 recessive variants in th…
View article: SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder Open
Different types of germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders: Schinzel-Giedion syndrome (SGS, via missense variants at a critical degron region) and SETBP1 -haploinsufficiency…
View article: Molecular Genetic Analysis of Rodent Non-Insulin Dependent Diabetes Mellitus
Molecular Genetic Analysis of Rodent Non-Insulin Dependent Diabetes Mellitus Open
Non-insulin dependent diabetes mellitus (NIDDM) is perhaps the most common metabolic disorder in humans. In its essence, NIDDM is a disorder of glucose homeostasis which results from a relative deficiency of circulating insulin. Approximat…
View article: Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study Open
Objectives To implementation an automated multi-institutional pipeline that delivers breast-cancer risk integrated with polygenic risk scores, monogenic variants, family history, and clinical factors, emphasizing operational challenges and…
View article: Germline and somatic variants in <i>DNMT3A</i> and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension
Germline and somatic variants in <i>DNMT3A</i> and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension Open
Background and Aims Multiple germline gene variants promote familial and idiopathic pulmonary arterial hypertension (PAH); however, none are consistently identified in associated PAH with connective tissue disease (APAH-CTD). Moreover, the…
View article: Clinical Integration of NIR-II Fluorescence Imaging for Cancer Surgery: A Translational Evaluation of Preclinical and Intraoperative Systems
Clinical Integration of NIR-II Fluorescence Imaging for Cancer Surgery: A Translational Evaluation of Preclinical and Intraoperative Systems Open
Background/Objectives: Back table fluorescence imaging performed on freshly excised tissue specimens represents a critical step in fluorescence-guided surgery, enabling rapid assessment of tumor margins before final pathology. While most p…
View article: RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation
RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation Open
View article: PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context
PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context Open
View article: Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery Open
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial in…
View article: Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease Open
Mothers against decapentaplegic homolog 5 (SMAD5) is a transcriptional regulator that functions within the TGF-β signaling cascade. Evidence from animal studies show that it is crucial for dorsoventral patterning, left-right asymmetry, car…
View article: Using large-scale population-based data to improve disease risk assessment of clinical variants
Using large-scale population-based data to improve disease risk assessment of clinical variants Open
View article: Machine Learning to Infer Neurocognitive Testing Scores Among Adolescents and Young Adults with Congenital Heart Disease
Machine Learning to Infer Neurocognitive Testing Scores Among Adolescents and Young Adults with Congenital Heart Disease Open
Congenital heart disease (CHD) affects approximately 1% of newborns and is associated with an increased risk for neurodevelopmental impairments. Identification and characterization of the factors affecting neurocognitive outcomes in adoles…
View article: Impact of Reproductive Factors and Hormone Replacement Therapy on Disease Severity in Women with Pulmonary Arterial Hypertension: Insights from the United States Pulmonary Hypertension Scientific Registry
Impact of Reproductive Factors and Hormone Replacement Therapy on Disease Severity in Women with Pulmonary Arterial Hypertension: Insights from the United States Pulmonary Hypertension Scientific Registry Open
Background Pulmonary arterial hypertension (PAH) is a devastating disease that affects women more often than men; recent U.S. cohorts demonstrate a female:male ratio of 3 to 4:1. Paradoxically, males have worse survival. The differential e…
View article: Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study
Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study Open
Objective To develop and implement a pipeline for integrated breast cancer risk assessment using the BOADICEA model within the eMERGE study, incorporating polygenic risk scores (PRS), monogenic variants, family history, and clinical factor…
View article: Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis
Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis Open
Disruptions in foregut morphogenesis can result in life-threatening conditions where the trachea and esophagus fail to separate, such as esophageal atresia (EA) and tracheoesophageal fistulas (TEFs). The developmental basis of these congen…
View article: Dysregulated Tricarboxylic Acid Cycle Metabolism Is Associated With Right Ventricular Maladaptation in Pulmonary Vascular Disease
Dysregulated Tricarboxylic Acid Cycle Metabolism Is Associated With Right Ventricular Maladaptation in Pulmonary Vascular Disease Open
Background Right ventricular (RV) maladaptation to elevated pulmonary afterload is the primary determinant of outcomes in pulmonary artery (PA) hypertension; however, the pathobiological mechanisms underlying RV decompensation remain poorl…
View article: A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data
A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data Open
View article: Understanding speech and language in KIF1A-associated neurological disorder
Understanding speech and language in KIF1A-associated neurological disorder Open
KIF1A -associated neurological disorder (KAND) is a genetic condition characterised by motor, cognitive and ophthalmologic features. The speech and language phenotype have not been systematically analysed. Here, we assess speech and langua…
View article: Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown
Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown Open
View article: Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A Open
KIF1A is a neuron-specific kinesin motor responsible for intracellular transport along axons. Pathogenic KIF1A mutations cause KIF1A-associated neurological disorders (KAND), a spectrum of severe neurodevelopmental and neurodegenerative co…
View article: Newborn Screening for Inborn Errors of Immunity via Whole-Genome Sequencing: A Pilot Study
Newborn Screening for Inborn Errors of Immunity via Whole-Genome Sequencing: A Pilot Study Open
Newborn screening by T cell receptor excision circle (TREC) measurement has transformed the care of severe combined immunodeficiency disease (SCID) by identifying babies and intervening prior to symptoms and/or infection. Many other inborn…
View article: Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
Efficient identification of de novo mutations in family trios: a consensus-based informatic approach Open
Accurate identification of de novo variants (DNVs) remains challenging despite advances in sequencing technologies, often requiring ad hoc filters and manual inspection. Here, we explored a purely informatic, consensus-based approach for i…
View article: Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes Open
Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 ge…
View article: A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles
A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles Open
Mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) gene encoding a protein called JIP3 is an adaption protein of the kinesin-1 complex known to play a role in axonal transport of cargo. Mutations in the gene have been link…
View article: Author response: GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis
Author response: GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis Open
View article: GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis Open
Haploinsufficiency for GATA6 is associated with congenital heart disease (CHD) with variable comorbidity of pancreatic or diaphragm defects, although the etiology of disease is not well understood. Here, we used cardiac directed differenti…
View article: Recessive genetic contribution to congenital heart disease in 5,424 probands
Recessive genetic contribution to congenital heart disease in 5,424 probands Open
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the rec…