Papers

Select Papers

Congenital Heart Disease

  • Jin, S.C., Homsy, J., …, Chung, W.K., …, Brueckner, M. Contribution of Rare Inherited and De Novo Variants in 2,871 Congenital Heart Disease Probands. Nat Genet.  49(11):1593-1601, 2017. PMID: 28991257.
  • Homsy, J., Zaidi, S., Shen, Y., …, Chung, W.K. De novo Mutations in Congenital Heart Disease with Neurodevelopmental and other Congenital Anomalies. Science. 350(6265):1262-1266, 2015. PMID: 26785492.
  • 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 SNP Array and Exome Sequence Data. Circulation. 115(10):884-96. 2014. PMID: 25205790.
  • Zaidi, S., Choi, M., Wakimoto, H., …, Chung, W.K., …, Lifton, R.P. De novo Mutations in Histone-Modifying Genes in Congenital Heart Disease.  Nature.  498(7453):220-3, 2013. PMID: 23665959.

Congenital Diaphragmatic Hernia

  • Yu, L., Sawle, A.D., Wynn, J., …, Chung, W.K. Increased Burden of De novo Predicted Deleterious Variants in Complex Congential Diaphragmatic Hernia. Hum Mol Genet. 24(12):4764-4773, 2015. PMID: 26034137.
  • Yu, L., Bennett, J.T., Wynn, J., …, Chung, W.K. Whole Exome Sequencing Identifies De Novo Mutations in GATA6 Associated with Congenital Diaphragmatic Hernia.  J Med Genet. 51(3):197-202, 2014. PMID: 24385578.
  • Yu, L., Wynn, J., Cheung, Y.H., …, Chung, W.K. Variants in GATA4 are a Rare Cause of Familial and Sporadic Congenital Diaphragmatic Hernia.  Hum Genet.  132(3):285-92, 2013. PMID: 23138528.

Pulmonary Hypertension

  • Ma, L., Roman-Campos, D., Austin, E.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., Leduc, C., …, Chung, W.K. Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated with Human Pulmonary Arterial Hypertension. Circ Cardiovasc Genet. 5(3):336-343, 2012. PMID: 22474227.

Neurogenetic Conditions

  • Shang, L., Henderson, L.B., Cho, M.T., …, Chung, W.K. De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia and Autism. Neurogenetics.  17(1):43-49, 2016. PMID: 26576547. 
  • Boyle, L., Wamelink, M.M., Salomons, G.S., …, Chung WK. 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.
  • Tanaka, A.J., Cho, M.T., Millan, F., …, Chung WK. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.  Am J Hum Genet. 97(3):457-464, 2015. PMID: 26299366.
  • Cheung, Y.H., Gayden, T., Campeau, P.M., …, Chung WK, Jabado N. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis. Am J Hum Genet. 92(6) :996-1000, 2013. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis. PMID: 23731537.

Other papers

    • Marks, L.J., Oberg, J.A., Pendrick, D., …, Chung, W.K., …, Sulis, M.L. Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. Front Pediatr. 5:265, 2017. PMID: 29312904.
    • Wynn, J., Ottman, R., Duong, J., …, Chung, W.K. Diagnostic Exome Sequencing in Children: A Survey of Parental Understanding, Experience, and Psychological Impact. Clin Genet. Dec 20, doi: 10.1111/cge.13200 [Epub ahead of Print], 2017. PMID: 29266212.
    • Wynn, J., Holland, D.T., Duong, J., Ahimaz, P., Chung, W.K. Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. J Genet Couns. Dec 15, doi:10.1007/s10897-017-0186-4 [Epub ahead of Print], 2017. PMID: 29243008.
    • Wortmann, S.B., Iwanicka-Pronicka, K., Kalkan Ucar, S., …, Chung, W.K., …, Maas, R.R. Progressive Deafness-Dystonia due to SERAC1 Mutations – A Study of 67 Cases. Ann Neurol. 82(6):1004-1015, 2017. PMID: 29205472.
    • Ebrahimi-Fakhari, D., Cheng, C., Dies, K., …, Chung, W.K., Bennett, J.T. Clinical and Genetic Characterization of AP4B1-Associated SPG47. Am J Med Genet A. 10.1002/ajmg.a.38561, 2017[Epub ahead of Print], 2017. PMID: 29193663.
    • Wynn, J., Martinez, J., Bulafka, J., …, Chung, W.K. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.  J Genet Couns. Nov 22,[Epub ahead of Print], 2017. PMID: 29168042.
    • Wolf, P., Alcalay, R.N., Liong, C., Cullen, E., Pauciulo, M.W., Nichols, W.C., Gan-Or, Z., Chung, W.K., Faulkner, T., Bentis, C., Pomponio, R.J., Ma, X., Kate Zhang, X., Keutzer, J.M., Oliva, P. Tandem Mass Spectrometry Assay of β-Glucocerebrosidase Activity in Drief Blood Spots Eliminates False Positives Detected in Fluorescence Assay. Mol Genet Metab. (17)30541-30543, 2017. PMID: 29100779.
    • Hamdan, F.F., Myers, C., Cossette, P., …, Chung, W.K., …, Michaud, J.L. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 101(5):664-685, 2017. PMID: 29100083.
    • Bohnen, M.S., Roman-Campos, D., Terrenoire, C., …, Chung, W.K. Kass, R.S. The Impact of Heterozygous KCNK3 Mutations Associated with Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.  J Am Heart Association. 6(9), 2017. PMID: 28889099.
    • Wolf, S.M., Amendola, L.M., Berg, J.S., …, Chung, W.K. …, Burke, W. Navigating the Research-Clinical Interface in Genomic Medicine: Analysis from the CSER Consortium. Genetics in Medicine. 10.1038/gim.2017.137, 2017. PMID28858330.
    • Amyere, M., Revencu, N., Helaers, R., …, Chung, W.K. …, Vikkula, M. Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-A VM2) Deregulating RAS-MAPK Signaling. Circulation. July 7 [Epub ahead of Print], 2017. PMID28687708.
    • Tanaka, A.J., Cho, M.T., Willaert, R., …, Chung, W.K. De Novo Variants in EBF3 are Associated with Hypotonia, Developmental Delay, Intellectual Disability and Autism. Cold Spring Harb Mol Case Stud. 3(6), 2017. PMID29162653.
    • Hemnes, A.R., Beck, G.J., Newman, J.H., …, Chung, W.K. Leopold, J.A. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. Cir Res. 121(10):1136-1139, 2017. PMID: 29074534.
    • Kruszka, P., Tanapaiboon, P., Neas, K., …, Chung, W.K. Muenke, M. Loss of Function in ROBO1 is Associated with Tetralogy of Fallot and Septal Defects. J Med Genet. 10.1136/ medgenet-2017-104611 [Epub ahead of print], 2017. PMID28592524.
    • Phelan, C.M., Kuchenbaecker, K.B., Tyrer, J.P., …, Chung, W.K. Pharoah, P.D.P. Identification of 12 New Susceptibility Loci for Different Histotypes of Epithelial Ovarian Cancer. Nat Genet. 49(5):680-691, 2017. PMID28346442.
    • Dodhia, S., Celis, K., Aylward, A., …, Chung, W.K., Haddad Jr, J. ACSS2 Gene Variant Associated with Cleft Lip and Palate in Two Independent Hispanic Populations. Laryngoscope. 127(10):E336-E339, 2017. PMID: 28543373.
    • Koenig, M.K., Hodgeman, R., Riviello, J.J., Chung, W.K., …, Pearl, P.L. Phenotype of GABA-Transaminase Deficiency. Neurology. 88(20):1919-1924, 2017. PMID: 28411234.
    • Sklerov, M., Kang, U.J., Liong, C., Chung, W.K., …, Alcalay, R.N. Frequency of GBA Variants in Autopsy-Proven Multiple System Atrophy. Mov Disord Clin Pract. 4(4):574-581, 2017. PMID: 28966932.
    • Jacher, J.E., Martin, L.J., Chung, W.K., Loyd, J.E., Nichols, W.C. Pulmonary Arterial Hypertension: Specialists’ Knowledge, Practices and Attitudes of Genetic Counseling and Genetic Testing in the USA. Pulm Circ. 7(2):372-383, 2017. PMID: 28597770.
    • Gluchowski, N.L., Chitraju, M., Picoraro, J.A., …, Chung, W.K., Walther, T.C., Farese Jr, R.V. Identification and Characterization of a novel DGAT1 Missense Mutation Associated with Congenital Diarrhea. J of Lipid Res. 58(6):1230-1237, 2017. PMID: 28373485.
    • Lumish, H.S., Steinfeld, H., Koval, C., …, Chung, W.K. Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. J Genet Couns. 26(5), 1116-1129, 2017. PMID: 28357778.
    • 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. 136(6):679-691, 2017. PMID: 28303347.
    • Mosialou, I., Shikhel, S., Liu, J.M., …, Chung, W.K., …, Kousteni, S. MC4R-Dependent Suppression of Appetite by Bone-Derived Lipocalin 2. Nature. 543(7645):385-390, 2017. PMID: 28273060.
    • Ludvigsson, J.F., Lebwoh, B., Green, P.H., Chung, W.K. Marild, K. Celiac Disease and Down Syndrome Mortality: A Nationwide Cohort Study. BMC Pediatr. 17(1):41, 2017. PMID: 28143429.
    • Rusconi, P., Wilkinson, J.D., Sleeper, L.A., …, Chung, W.K., …, Lipshultz, S.E. Differences in Presentation and Outcomes between Children with Familial Dilated Cardiomyoathy and Children with Idiopathic Dilated Cardiomyopathy: A Report from the Pediatric Cardiomyopathy Registry Study Group. Circ Heart Fail. 10(2), 2017. PMID: 28193717.
    • Chiu, J.S., Ma, L., Wynn, J., …, Chung, W.K. Mutations in BMPR2 Are Not Present in Patients with Pulmonary Hypertension Associated with Congenital Diaphragmatic Hernia. J Pediatr Surg. 52(11):1747-1750, 2017. PMID: 28162765.
    • Rodriguez-Muela, N., Litterman, N.K., Norabuena, E.M., …, Chung, W. K., Davidow, L.S., Macklis, J.D., Rubin, L.L. Single-Cell Analysis of SMN Reveals its Broader Role in Neuromuscular Disease. Cell Rep. 18(6):1484-1498, 2017. PMID: 28178525.
    • Stern, D., Cho, M.T., Chikarmane, R., …, Chung, W.K. Association of the Missense Variant p.Arg203Trp in PACS1 as a Cause of Intellectual Disability and Seizures. Clin Genet. 92(2):221-223, 2017. PMID: 28111752.
    • Rama, G., Chung, W.K., Cunniff, C.M., Krishnan, U. Rapidly Progressive Mitral Valve Stenosis in Patients with Acromelic Dysplasia. Cardiol Young. 27(4):797-800, 2017. PMID: 28077185.
    • Harms, F.L., Girisha, K.M., Hardigan, A.A., …, Chung, W.K., …, Kutsche, K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Gent. 100(1): 117-127, 2017. PMID: 28017373.
    • Farkouh-Karoleski, C., Najaf, T., Wynn, J., …, Chung, W.K., …, Needelman, H. A Definition of Gentle Ventilation in Congenital Diaphragmatic Hernia: A Survey of Neonatologists and Surgeons. J Perinat Med. 45(9): 1031-1038, 2017. PMID: 28130958.
    • Bernier, R., Hudac, C.M., Chen, Q., …, Chung, W.K. Developmental Trajectories for Young Children with 16p11.2 Copy Number Variation. Am J Med Genet B Neuropsychiatr Genet. 174(4):367-380, 2017. PMID: 28349640.
    • Kuchenbaecker, K.B., Hopper, J.L., Barnes, D.R., …, Chung, W.K., …, Antoniou, A.C. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 317(23):2402-2416, 2017. PMID: 28632866.
    • Hamdi, Y.,Soucy, P., Kuchenbaecker, K.B., …, Chung, W.K., …, Simard, J. Association of Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers with Genetic Variants showing Differential Allelic Expression: Identification of a Modifier of Breast Cancer Risk at Locus 11q22.3. Breast Cancer Res Treat. 161(1):117-134, 2017. PMID: 27796716.
    • Kalia, S.S., Adelman, K., Bale, S., Chung, W. K., …, Miller, D. Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing, 2016 update (ACMG SF v2.0): A Policy Statement of the American College of Medical Genetics and Genomics. Genet Med.19(2):249-255, 2017. PMID: 27854360.
    • Vivero, M., Cho, M.T., Begtrup, A., …, Chung, W.K. Additional De Novo Missense Genetic Variants in NALCN Associated with CLIFAHDD Syndrome. Clin Genet. 91(6):929-931, 2017. PMID: 28133733.
    • Lucas, A.L., Tarlecki, A., Van Beck, K., …, Chung, W.K., …, Genkinger, J.M. Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program. J Genet Couns. 26(4):806-813, 2017. PMID: 28039657.
    • Terry, M.B., Keegan, T.H.M., Houghton, L.C., …, Chung, W.K., …, John, E.M. Pubertal Development in Girls by Breast Cancer Family History: The LEGACY Girls Cohort. Breast Cancer Res. 19(1):69, 2017. PMID: 28595647.
    • Webster, R., Cho, M.T., Retterer, K., …, Chung, W.K. De Novo Loss of Function Mutations in KIAA2022 Are Associated with Epilepsy and Neurodevelopmental Delay in Females. Clin Genet. 91(5): 756-763, 2017. PMID: 27568816.
    • Berko, E.R., Cho, M.T., Eng, C., …, Chung, W.K. De Novo Missense Variants in HECW2 are Associated with Neurodevelopmental Delay and Hypotonia. J Med Genet. 54(2):84-86, 2017. PMID: 27389779.
    • Wynn, J., Martinez, J., Duong, J., Chiuzan, C., Phelan, J.C., Fyer, A., Klitzman, R.L., Appelbaum, P.S. Chung, W.K. Research Participants’ Preferences for Hypothetical Secondary Results from Genomic Research. J Genet Couns. 26(4):841-851, 2016. PMID: 28035592.
    • Oberg, J., Glade Bender, J.L., Sulis, M.L., …, Chung, W.K., …, Kung, A.L. Implementation of Next Generation Sequencing into Pediatric Hematology-Oncolgy Practice: Moving Beyond Actionable Alterations. Genome Medicine. 8(1):133, 2016. PMID: 28007021.
    • Webster, E., Cho, M.T., Alexander, N., …, Chung, W.K. De Novo PHIP-Predicted Deleterious Variants are Associated with Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features. Cold Spring Harb Mol Case Stud. 2(6):a001172, 2016. PMID: 27900362.
    • Ma, L., Bayram, Y., McLaughlin, H.M., …, Chung, W.K. De Novo Missense Variants in PPP1CB are Associated with Intellectual Disability and Congenital Heart Disease. Hum Genet. 135(12):1399-1409. Epub, 2016. PMID: 27681385.
    • Bain, J.M., Cho, M.T., Telegrafi, A., …, Chung, W.K. Variants in HNRNPH2 on the X Chromosome are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Gen. 99(3):728-834, 2016. PMID: 27545675.
    • O’Daniel, J.M., McLaughlin, H.M., Amendola, L.M., …, Chung, W.K., …, Rehm, H. A Survey of Current Practices for Genomic Sequencing Test Interpretation and Reporting Processes in US Laboratories. Genet Med. 19(5):575-582, 2016. PMID: 27811861.
    • Palmer, E.E., Stuhlmann, T., Weinert, S., …, Chung, W.K., …, Kalscheuer, V.M. De Novo and Inherited Mutations in the X-Linked Gene CLCN4 are Associated with Syndromic Intellectual Disability and Behavior and Seizure Disorders in Males and Females. Mol Psychiatry. 23(2):222-230, 2018. PMID: 27550844.
    • Gordon, R.J., Bell, J., Chung, W.K., …, Wardlaw, S.L. Childhood Acromegaly due to X-linked Acrogigantism: Long Term Follow-Up. Pituitary. 19(6): 560-564, 2016. PMID: 27631333.
    • Castel, S.E., Mohammadi, P., Chung, W.K., Shen, Y., Lappalainen, T. Rare Variant Phasing and Haplotypic Expression from RNA-Sequencing with phASER. Nat Commun. Sep 8;7: 12817, 2016. PMID: 27605262.
    • Cohen, J.S. Srivastava, S., Farwell Hagman, K.D., …, Chung, W.K., Fatemi, A. Further Evidence that De Novo Missense and Truncating Variants in ZBTB18 cause Intellectual Disability with Variable Features. Clinical Genetics. 91(5):697-707, 2016. PMID: 27598823.
    • Steinman, K.J., Spence, S.J., Ramocki, M.B., …, Chung, W.K., Sherr, E.H.; Simons VIP Consortium. 16p11.2 Deletion and Duplication: Characterizing Neurologic Phenotypes in a Large Clinically-Ascertained Cohort. Am J Med Genet A. 170(11):2943-2955, 2016. PMID: 27410714.
    • Tang, E.Y., Trivedi, M.S., Kukufka, R., Chung, W.K., …, Crew, K. Population-based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women. Breast J. Nov 30, doi:10.1111/tbj.12736, 2016. PMID: 27900810.
    • Han, B., Copeland, C.A., Kawano, Y., …, Chung, W.K., Kenworthy, A.K. Characterization of a Caveolin-1 Mutation Associated with Both PAH and Congenital Genralized Lipodystrophy. Traffic. 17(12):1297-1312, 2016. PMID: 27717241.
    • McKean, D.M., Homsy, J., Wakimoto, H., …, Chung, W.K., …, Seidman, J.G. Loss of RNA Expression and Allele-Specific Expression Associated with Congenital Heart Disease. Nat Commun. 27;7:12824, 2016. PMID: 27670201.
    • Anguera, J.A., Brandes-Aitken, A.N., Rolle, C.E., …, Chung, W.K., …, Marco, E.J. Characterizing Cognitive Control Abilities in Children with 16p11.2 Deletion using Adaptive “Video Game” Technology: A Pilot Study. Transl Psychiatry. 6(9):e893, 2016. PMID: 27648915.
    • Okur, V., Cho, M.T., Henderson, L., …, 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.
    • Fatkin, D., Lam, L., Herman, D.S., …, Chung, W.K., …, Seidman, C.E. Titin Truncating Mutations: A Rare Cause of Dilated Cardiomyopathy in the Young. Progress in Pediatric Cardiology. 40: 41-45, 2016.
    • Sorge, S.T., Hesdorffer, D.C., Phelan, J.C., …, Chung, W.K., Ottman, R. Depression and Genetic Causal Attribution of Epilepsy in Multiplex Epilepsy Families. Epilepsia. 57(10): 1643-1650, 2016. PMID: 27558297.
    • Bersell, K., Montgomery, J. A., Kanagasundram, A.N., …, Chung, W.K., …, Roden, D. A Partial Duplication and Poly (A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. Circ Arrhythm Electrophysiol. 9(6) doi: 10.1161/CIRCEP.116.004081, 2016. PMID: 27286732.
    • Terry, M.B., Goldberg, M., Schechter, S., …, Chung, W.K., …, Buys, S.S. Comparison of Clinical, Maternal, and Self Pubertal Assessments: Implications for Health Studies. Pediatrics. 138(1), 2016. PMID: 27279647.
    • Chang, Y.S., Owen, J.P., Pojman, N.J., …, Chung, W.K., …, Mukherjee, P. Reciprocal White Matter Alterations Due to 16p11.2 Chromosomal Deletions versus Duplications. Human Brain Mapp. Aug, 37(8), 2833-2848, 2016. PMID: 27219475.
    • Millan, F., Cho, M.T., Retterer, K., …, Chung, W.K., Bale, S. Whole Exome Sequencing Reveals De Novo Pathogeneic Variants in KAT6A as a Cause of a Neurodevelopmental Disorder. Am J Med Genet A.  170(7): 1791-1798, 2016. PMID: 27133397.
    • Beck, D.B., Cho, M.T., Millan, F., …, 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., Retterer, K., …, Chung, W.K. Mutations in HIVEP2 are Associated with Developmental Delay, Intellectual Disability and Dysmorphic Features. Neurogenetics. 17(3):159-164, 2016. PMID: 27003583.
    • Green Snyder, L., D’Angelo, D., Chen, Q., …, Chung, W.K., …, Wolken, A. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 46(8): 2734-2748, 2016. PMID: 27207092.
    • Chen, C.A., Bosch, D.G., Cho, M.T., …, Chung, W.K., …, Schaaf, C. The Expanding Clinical Phenotype of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: 20 New Cases, and Possible Genotype-Phenotype Correlations. Genet Med, 18(11): 1143-1150, 2016. PMID: 26986877.
    • Harel, T., Yesil, G., Bayram, Y., …, Chung, W.K., …, Lupski, J.R. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 98(3):562-570. 2016. PMID: 26942288.
    • Couch, F.J., Buchenbaecker, K., Michailidou, K., …, Chung, W.K., …, Antoniou, A.C. Identification of Four Novel Susceptibility Loci for Oestrogen Receptor Negative Breast Cancer. Nat Commun. Apr 27; 7:11375, 2016. PMID: 27117709.
    • Green, R.C., Goddard, K.A., …, Chung, W.K., …, Yu, J.H. Clinical Sequencing Exploratory Research Consortium: Accelerating the Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2;98(6):1051-1066, 2016. PMID: 27181682.
    • Tanaka, A.J., Cho, M.T., Retterer, K., …, 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.
    • Evans, J.D., Girerd, B., Montani, D., …, Chung, W.K., …, Morrell, N.W.  BMPR2 Mutations and Survival in Pulmonary Arterial Hypertension: An Individual Participant Data Meta-Analysis. Lancet Respir Med. 4(2): 129-137, 2016. PMID: 26795434.
    • Berman, J.I., Chudnovskaya, D., Blaskey, L., …, Chung, W.K., …, Roberts, T.P. Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers. AJNR Am J Neuroradiol. 37(6):1178-1184, 2016. PMID: 26869473.
    • John, E.M., Terry, M.B., Keegan, T.H., …, Chung, W.K., …, Andrulis, I.L. The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. Epidemiology. 27(3): 438-448, 2016. PMID: 26829160.
    • Rinke, M.L., Driscoll, A., Mikat-Stevens, N., …, Chung, W.K., Tarini, B.A. A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. Pediatrics. 137(2):1-10, 2016. PMID: 26823539.
    • Caminiti, C.B., Hesdorffer, D.C., Shostak, S., …, Chung, W.K., Ottman, R. Parents’ Interest in Genetic Testing of their Offspring in Multiplex Epilepsy Families. Epilepsia. 57(2): 279-287, 2016. PMID: 26693851.
    • D’Angelo, D., Lebon, S., Chen, Q., …, Chung, W.K. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 73(1):20-30, 2016. PMID: 26629640.
    • Alcalay, R., Levy, O.A., Wolf, P., …, Chung, W.K., …, Gan-Or, Z. SCARB2 Variants and Glucocerebrosidase Activity in Parkinson Disease. NPJ Parkinson’s Disease. 2, 2016. PMID: 27110593.
    • Pasquali, S.K., Jacobs, J.P., Farber, G.K., …, Chung, W.K., …, Kaltman, J.R. Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research. Circulation. 133(14) 1410-1418, 2016. PMID: 27045129.
    • Koolen, D.A., Pfundt, R., Linda, K., …, Chung, W.K., …, Willemsen, M. The Koolen-de Vries Syndrome: A Phenotypic Comparison of Patients with a 17q21.31 Microdeletion versus a KANSL1 Sequence Variant. Eur J Hum Genet. 24(5): 652-659, 2016. PMID: 26306646.
    • Bernier, R., Steinman K.J., Reilly, B., …, Chung, W.K. Clinical Phenotype of the Recurrent 1q21.1 Copy-Number Variant. Genet Med. 18(4): 341-349, 2016. PMID: 26066539.
    • Jenkins, J., Chow, V., Blaskey, L., …, Chung, W.K., …, Roberts, T.P. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cereb Cortex. 26(5): 1957-1964, 2016. PMID: 25678630.
    • Brothers, K.B., Holm, I.A., Childerhose, J.E., …, Chung, W.K., …, Stallings, S. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr. 168:226-231, 2016. PMID: 26477867.
    • Retterer, K., Juusola. J., Cho, M.T., …, Chung, W.K., Bale, S. Clinical Application of Whole Exome Sequencing across Clinical Indications. Genet Med. 18(7): 696-704, 2016. PMID: 26633542.

All Papers on PubMed by Dr. Wendy K. Chung.