Chung, Wendy K.

Psychiatric disorders in children with 16p11.2 deletion and duplication

Niarchou, M., Chawner, S. J. R. A., Doherty, J. L., Maillard, A. M., Jacquemont, S., Chung, W. K., Green-Snyder, L., Bernier, R. A., Goin-Kochel, R. P., Hanson, E., et al. (2019) · Translational Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 156

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

Moreno-De-Luca, A., Evans, D. W., Boomer, K. B., Hanson, E., Bernier, R., Goin-Kochel, R. P., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Slane, M. M., et al. (2015) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 137

Aberrant white matter microstructure in children with 16p11.2 deletions

Owen, J. P., Chang, Y. S., Pojman, N. J., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., Buckner, R. L., et al. (2014) · The Journal of Neuroscience

Advanced Neuroimaging Techniques and ApplicationsGenomic variations and chromosomal abnormalities

Cited by 113

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. X., Ye, B., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Liu, D., Banerjee, N., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 110

Predicting functional effect of missense variants using graph attention neural networks

Zhang, H., Xu, M. S., Fan, X., Chung, W. K., & Shen, Y. (2022) · Nature Machine Intelligence

Genomics and Rare DiseasesMachine Learning in Bioinformatics

Cited by 98

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Chawner, S. J. R. A., Doherty, J. L., Anney, R. J. L., Antshel, K. M., Bearden, C. E., Bernier, R., Chung, W. K., Clements, C. C., Curran, S. R., Cuturilo, G., et al. (2021) · American Journal of Psychiatry

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 95

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Guéant, J.-L., Chéry, C., Oussalah, A., Nadaf, J., Coelho, D., Josse, T., Flayac, J., Robert, A., Koscinski, I., Gastin, I., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationMetabolism and Genetic Disorders

Cited by 93

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

Chang, Y. S., Owen, J. P., Pojman, N. J., Thieu, T., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., et al. (2016) · Human Brain Mapping

Genomic variations and chromosomal abnormalitiesAdvanced Neuroimaging Techniques and Applications

Cited by 81

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high‐risk pancreatic cancer screening and pancreatic cancer cohorts

Lucas, A. L., Frado, L. E., Hwang, C., Kumar, S., Khanna, L. G., Levinson, E. J., Chabot, J. A., Chung, W. K., & Frucht, H. (2014) · Cancer

BRCA gene mutations in cancerPancreatic and Hepatic Oncology Research

Cited by 68

Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

The SPARK Consortium, Fombonne, E., Green Snyder, L., Daniels, A., Feliciano, P., & Chung, W. (2020) · Journal of Autism and Developmental Disorders

Autism Spectrum Disorder ResearchFamily and Disability Support Research

Cited by 65

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., et al. (2021) · JAMA Cardiology

Congenital Heart Disease StudiesGenomics and Rare Diseases

Cited by 62

Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication

on behalf of the Simons VIP consortium, Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., Gerdts, J., Kanne, S., Berry, L., et al. (2016) · Journal of Autism and Developmental Disorders

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 61

Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.

Chung, W. K., Luke, A., Cooper, R. S., Rotini, C., Vidal-Puig, A., Rosenbaum, M., Chua, M., Solanes, G., Zheng, M., Zhao, L., et al. (1999) · Diabetes

Mitochondrial Function and PathologyAdipose Tissue and Metabolism

Cited by 48

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT

Zelin, C., Chung, W. K., Jeanne, M., Zhang, G., & Weng, C. (2024) · Journal of Biomedical Informatics

Artificial Intelligence in Healthcare and EducationMachine Learning in Healthcare

Cited by 47

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 38

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians

Abdulhadi-Atwan, M., Jean, A., Chung, W. K., Meir, K., Ben Neriah, Z., Stratigopoulos, G., Oberfield, S. E., Fennoy, I., Hirsch, H. J., Bhangoo, A., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 37

Applying Deep Neural Network Analysis to High-Content Image-Based Assays

Yang, S. J., Lipnick, S. L., Makhortova, N. R., Venugopalan, S., Fan, M., Armstrong, Z., Schlaeger, T. M., Deng, L., Chung, W. K., O’Callaghan, L., et al. (2019) · SLAS DISCOVERY

Cell Image Analysis TechniquesSingle-cell and spatial transcriptomics

Cited by 36

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers

Hudac, C. M., Bove, J., Barber, S., Duyzend, M., Wallace, A., Martin, C. L., Ledbetter, D. H., Hanson, E., Goin‐Kochel, R. P., Green‐Snyder, L., et al. (2020) · Autism Research

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 31

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Edwards, J. J., Rouillard, A. D., Fernandez, N. F., Wang, Z., Lachmann, A., Shankaran, S. S., Bisgrove, B. W., Demarest, B., Turan, N., Srivastava, D., et al. (2020) · JACC: Basic to Translational Science

Congenital heart defects researchCardiomyopathy and Myosin Studies

Cited by 27

Psychotic symptoms in 16p11.2 copy‐number variant carriers

Jutla, A., Turner, J. B., Green Snyder, L., Chung, W. K., & Veenstra‐VanderWeele, J. (2020) · Autism Research

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 21

A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., et al. (2022) · Journal of Inherited Metabolic Disease

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 18

PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context

Zhong, G., Zhao, Y., Zhuang, D., Chung, W. K., & Shen, Y. (2025) · Nature Communications

Genomics and Rare DiseasesMachine Learning in Bioinformatics

Cited by 15