Select Papers

  • Longoni, M., High, F.A., …, Chung, W.K., Donahoe, P.K. Genome-wide Enrichment of Damaging De Novo Variants in Patients with Isolated and Complex Congenital Diaphragmatic Hernia. Human Genetics. Human Genetics. Mar 16, [Epub ahead of Print], 2017. PMID: 28303347.
  • *Ma, L., Bayram, Y., …, Chung, W.K. De Novo Missense Variants in PPP1CB are Associated with Intellectual Disability and Congenital Heart Disease. Human Genetics. Sept 28, [Epub ahead of Print], 2016. PMID: 27681385.
  • Bain, J.M., Cho, M.T., …, Chung, W.K. Variants in HNRNPH2 on the X Chromosome are Associated with a Neurodevelopmental Disorder in Females. Am J of Hum Genet. Sept 28, 99(3):728-834, 2016. PMID: 27545675.
  • Castel, S.E., Mohammadi, P., Chung, W.K., Shen, Y., Lappalainen, T. Rare Variant Phasing and Haplotypic Expression from RNA-Sequencing with phASER. Nature Commun. Sep 8;7: 12817. PMID: 27605262.
  • *Webster, R., Cho, M.T., ..,Chung, W.K. De Novo Loss of Function Mutations in KIAA2022 Are Associated with Epilepsy and Neurodevelopmental Delay in Females. Clin Genetics. Aug 28 [Epub ahead of Print], 2016. PMID: 27568816.
  • McKean, D.M., Homsy, J., ..,Chung, W.K., .., Seidman, J.G. Loss of RNA Expression and Allele-Specific Expression Associated with Congenital Heart Disease. Nat Commun. 27; 27;7:12824, 2016. PMID: 27670201.
  • Okur, V., Cho, M.T., ..,Chung, W.K. De Novo Mutations in CSNK2A1 are Associated with Neurodevelopmental Abnormalities and Dysmorphic Features. Hum Genet. 135(7):699-705, 2016. PMID: 27048600.
  • Qi, H., Dong, C., Chung, W.K., Wang, K., Shen, Y. Deep Genetic Connection between Cancer and Developmental Disorders. Hum Mutat. 37(10): 1042-1050, 2016. PMID: 27363847.
  • *Berko, E.R., Cho, M.T., .., Chung, W.K. De Novo Missense Variants in HECW2 are Associated with Neurodevelopemental Delay and Hypotonia. J Med Genet. 135(7):699-705, 2016. PMID: 27389779.
  • *Beck, D.B., Cho, M.T., .., Chung, W.K. A Recurrent de novo CTBP1 Mutation is associated with Developmental Delay, Hypotonia, Ataxia, and Tooth Enamel Defects. Neurogenetics. 17(3):173-178, 2016. PMID: 27094857.
  • *Steinfeld, H., Cho, M.T., .., Chung, W.K. Mutations in HIVEP2 are Associated with Developmental Delay, Intellectual Disability and Dysmorphic Features. Neurogenetics. 17(3):159-164, 2016. PMID: 27003583.
  • *Tanaka, A.J., Cho, M.T., .., Chung, W.K. De Novo Pathogenic Variants in CHAMP1 are Associated with Global Developmental Delay, Intellectual Disability, and Dysmorphic Facial Features. Cold Spring Harb Mol Case Stud. 2(1):a000661, 2016. PMID: 27148580.
  • *D’Angelo, D., Lebon, S., .., Chung, W.K. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. Cold Spring Harb JAMA Psychiatry. 73(1):20-30, 2016. PMID: 26629640.
  • *Shang, L., Henderson, L.B., .., Chung, W.K. De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia and Autism. Neurogenetics. Neurogenetics. 17(1):43-49, 2016. PMID: 26576547.
  • *Boyle, L., Wamelink, M.M., .., Chung, W.K. Mutations in TKT are the Cause of a Syndrome Including Short Stature, Developmental Delay and Congenital Heart Defects. Am J Hum Genet. 98(6):1235-1242, 2016. PMID: 27259054.
  • Retterer, K., Juusola. J., .., Chung, W.K., Bale, S. Clinical Application of Whole Exome Sequencing across Clinical Indications. Genet Med. 18(7): 696-704, 2016. PMID: 26633542.
  • *Homsy, J., Zaidi, S., ..,Chung, W.K. De Novo Mutations in Congenital Heart Disease with Neurodevelopmental and other Congenital Anomalies. Science. 350:1262-1266, 2015. PMID: 26785492.
  • *Susswein, L.R., Marshall, M.L., ..,Chung, W.K. Pathogenic and Likely Pathogenic Variant Prevalence Among the First 10,000 Patients Referred for Next Generation Cancer Panel Testing. Genet Med. Doi: 10.1038/gim.2015.166. [Epub ahead of print], 2015. PMID: 26681312.
  • *Yang, H., Douglas, G., .., Chung, W.K. De Novo Truncating Variants in the AHDC1 gene encoding the AT-hook DNA-Binding Motif-Containing Protein 1 are Associated with Intellectual Disability and Developmental Delay. Cold Spring Harb Mol Case Stud. 1(1):a000562, 2015. PMID: 27148574.
  • *Yizhou, Y., Cho, M.T., .., Chung, W.K. De Novo POGZ Mutations are Associated with Neurodevelopmental Disorders and Microcephaly. Cold Spring Harb Mol Case Stud. 1(1):a000455, 2015. PMID: 27148570.
  • *Tanaka, A.J., Bai, R., .., Chung, W.K. De Novo Mutations in PURA are Associated with Hypotonia and Developmental Delay. Cold Spring Harb Mol Case Stud.Cold Spring Harb Mol Case Stud. 1(1):a000455, 2015. PMID: 27148565.
  • * Shang, L., Cho, M.T., .., Chung, W.K. Mutations in ARID2 are Associated with Intellectual Disabilities. Neurogenetics. 16(4):307-314, 2015. PMID: 26238514.
  • *Damseh, N., Simonin, A., .., Chung, W.K., Elpeleg, O., Edvardson, S. Mutations in SLC1A4, Encoding the Brain Serine Transporter, Are Associated with Developmental Delay, Microcephaly and Hypomyelination. Journal of Medical Genetics. 52(8): 541-547, 2015. PMID: 26041762.
  • *Tanaka, A.J., Cho, .., Chung, W.K. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. AJHG. 97(3):457-464, 2015. PMID: 26299366.
  • Chung, W.K., Martin, K., .., Shinawi, M. Mutations in CoQ4, an Essential Component of Coenzyme Q Biosynthesis, cause Lethal Neonatal Mitochondrial Encephalomyopathy. Journal of Medical Genetics. 52(9):627-635, 2015. PMID: 26185144.
  • *Celis, K., Shuldiner, S., Haverfield, E.V., Cappell, J., Yang, R., Gong, D.W., Chung, W.K. Loss of Function Mutation in Glutamic Pyruvate Transaminase 2 (GPT2) causes Developmental Encephalopathy. Journal of Inherted Metabolic Disease. 38(5):941-948, 2015. PMID: 25758935.
  • *Hanson, E., Bernier R., .., Chung, W.K., on behalf of the Simons Variation in Individuals Project Consortium. The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population. Biological Psychiatry. 77(9):785-793, 2015 PMID: 25064419.
  • *Iglesias, A., Anyane-Yeboa, K., Wynn, J., Wilson, A., Truitt Cho, M., Guzman, E., Sisson, R., Egan, C., Chung, W.K. The Usefulness of Whole Exome Sequencing (WES) in Routine Clinical Practice. . Genetics in Medicine. 16(12):922-923, 2014. PMID: 24901346.
  • *Glessner, J.T., Bick, A.G., .., Chung, W.K. Increased Frequency of De novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data. Circulation Research. 115(10):884-896, 2014. PMID: 25205790.
  • Backenroth, D., Homsy, J., .., Chung, W.K., Shen, Y. CANOES: Detecting Rare Copy Number Variants from Whole Exome Sequencing Data. Nucleic Acids Res. 42(12):e97, 2014. PMID: 24771342.
  • *Yu, L., Bennett, J.T., .., Chung, W.K. Whole Exome Sequencing Identifies De Novo Mutations in GATA6 Associated with Congenital Diaphragmatic Hernia. Journal of Medical Genetics. 51(3):197-202, 2014. PMID: 23665959.
  • Zaidi, S., Choi, M., .., Chung, W.K., Gelb, B.D., Goldmuntz, E., Seidman, C.E., Lifton, R.P. De Novo Mutations in Histone-Modifying Genes in Congenital Heart Disease. Nature. 498(7453):220-223, 2013. PMID: 23665959.
  • *Ma, L., Roman-Campos, D., .., Chung, W.K. A Novel Channelopathy in Pulmonary Arterial Hypertension.N Engl J Med. 369(4):351-361, 2013. PMID: 23883380.
  • * Austin, E.D., Ma, L., .., Chung, W.K. Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated with Human Pulmonary Arterial Hypertension. Circulation Cardiovascular Genetics. 5(3):336-343, 2012. PMID: 22474227.

Other papers

Papers on PubMed by Dr. Wendy K. Chung.