Select Papers

Maleyeff, L.,Newburger, J.W., Wypij, D., Thomas, N.H., Anagnoustou, Chung, W.K., Morton, S.U. Association of genetic and sulcal traits with executive function in congenital heart disease.Clin Genet. 2024 Feb;11(2):278-290. doi: 10.1002/acn3.51950. Epub 2023 Nov 27. PMCID: PMC10863927 PMID:38009418

Stewart, L.A, Hernan, R.R, Mardy, C., Hahn, E., Chung, W.K., Krishnan, U.S. Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. J Pediatr. 2023Sep;260:113530. doi: 10.1016/j.jpeds.2023.113530. Epub 2023 May 31. PMID: 37268035

Griffin, E., Nees, S., Morton, S., Chung,W.K. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ. Genom Precis Med. 2023 Apr; 16(2):e003791. PMCID: PMC10121846. PMID:36803080.

Morton, S.U., Norris, A.N., Cunningham, Chung,W.K., Newburger, J.W. Association of Potentially Damaging De Novo Gene Variants with Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 2023 Jan 3;6(1):e2253191. PMCID: PMC9880793. PMID: 36701153.

Wilcox, J.A.L., Geiger, J.T., Morton, S.U.,, Chung, W.K., Seidman, C.E. Neither cardiac mitochondrial DNA variation or copy number contribute to congenital heart disease risk. Am J Hum Genet. 2022 May 5;109(5):961-966. PMCID: PMC9118105. PMID: 35397206.

Ward, T.L., Tai, W., Morton,S.U., Chung, W.K., Seidman, C.E. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Seidman, J.G. Circ Resh. 2021 Apr 16;128(8):1156-1169. PMCID: PMC804838 PMID: 33557580.

Morton, S.U., Shimamura, A., Newburger Chung, W.K., Seidman. Association of Damaging Variants in Genes with Increased Cancer Risk Among Patients with Congenital Heart Disease JAMA Cardiol. 2021 Apr 1;(4):457-462. PMCID: PMC7578917. PMID:33084842.

Qu, H., Zhang, H., Zhao, Y., Chen, C., Chung, W.K., Shen, Y. MVP predicts pathogenicity of missense variants by deep learning . Nat Commun. 2021 Jan 21;12(1):510. PMCID: PMC7820281. PMID: 33479230.

Pulmonary Hypertension

International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension Welch, C., Aldred, M., Balachandar, S., Dooijes, D., Eichstaedt, C., Graf, S., Houwelling, A., Machado, R., Pandya, D., Prapa, M., Shaukat, M., Southgate, L., Castano, J.T. Chung, W.K. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. PMID:37422716.

Eichstaedt, C.A., Belge, C., Chung, W.K.,Morell, N.W. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. PMCID:PMC9947314 PMID:36302552.

Machado, R.D., Welch, C.L., Haimel, M., Chung, W.K. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. J Med Genet. 2022 Sep;59(9):906-911. PMCID: PMC9411922. PMID: 34493544. .

Le Ribeuz, H., Masson, B., Capuano, V., Dutheil, Chung, W.K., Antigny, F . SUR1 as a New Thereaputic Target for Pulmonary Arterial Hypertension. Am J Respir Cell Mol Biol. 2022 May;66(5):539-554.doi: 10.1165/rcmb.2021-0180OC. PMID: 35175177.

Hemnes, A.R., Leopold, J., Radeva, M.K., Beck, G.J. Chung, W.K., Horn, E.M. Clinical Characteristics and Transplant-Free Survival Across the Spectrum of Pulmonary Vascular Disease. J Am Coll Cardiol. 2022 Aug 16;80(7):697-718. PMCID: PMC9897285. PMID: 35953136.

Badlam, J., Badesch, D, Austin, E., Benza, R.L.,Chung W.K., Chakinala,M United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Chest. 2021 Jan;159(1):311-327. PMCID: PMC7803940. PMID: 32858008

Stokes, G., Li, Z., Talaba, N., Chung W.K., McCulley, D.J. Rescuing lung development through embryonic inhibition of histone acetylation. J Pediatric. 2023Sep;260:113530. doi: 10.1016/j.jpeds.2023.113530. Epub 2023 May 31. PMID: 38295182.

Neurogenetic Conditions

Ziegler, A., Carroll, J., Bain, J.M., Sands, T.T., Fee, R.J., Uher, D., Kanner, C.H., Montes, J., Glass, S., Douville, J., Mignon, L., Gleeson, J.G., Crooke, S.T. Chung, W.K. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder Nature Medicine. August 9, 2024 [Epub ahead of Print] PMID:TBD.

Bosman, W., Cho MT, … De Baaij, Chung, W.K.,Claverie-Martin, F., Davis, J.M., Hoenderop, J.G.J., de Baaij, J.H.F. Pathogenic heterozygous variants in TRPM7 and hypomagnesemia with developmental delay. The Clinical Kidney Journal June 6, 2024.[Epub ahead of Print] 2024, PMID: 28111752.

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Sudnawa, K.K., Li, W., Calamia, S., Kanner, C.H., Bain, J.M., Abdelhakim, A.H., Geltzer, A., Mebane, C.M., Provenzano, F.A., Sands, T.T., Fee, R.J., Montes, J., Shen, Y., Chung, W.K. , Genet Med. 2024 May 20:101169. doi: 10.1016/j.gim.2024.101169. Epub ahead of print. PMID:38785164

Health Supervision for Children and Adolescents with 16p11.2 Deletion Syndrome. Chung, W.K.,., Herrera F.F. (2024 ) Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006316. doi: 10.1101/mcs.a006316. PMID:38050025

Sudnawa, K.K., Li, W., Calamia, S., Kanner, C.H., Bain,Chung, W.K.Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genet Med. 2024 May 20:101169. doi: 10.1016/j.gim.2024.101169. Epub ahead of print. PMID: 38785164. .

Jutla, A., Harvey, L., Veenstra-VanderWeele, J., Chung, W.K.,Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 May;17(5):906-916. doi: 10.1002/aur.3132. Epub 2024 Apr 25. PMID: 38660979.

Layo-Carris, D.E., Lubin, E.E., Sangree, A.K., Clark, K.J., Durham, E.L., Gonzalez, E.M., Chung, W.K., Bryant, L.M. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Epub ahead of print. PMID: 38678163.

Lin, S.J., Vona, B., Lau, T., Huang, K.,Chung, W.K.,Varshney, G.K. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genomic Medicine. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. PMCID: PMC10688095. PMID:38031187.

Garber, A., Weingarten, L.S., Abreu, N.J., Elloumi, H.Z., Haack, T., Hildebrant, C., Martínez-Gil, N., Mathews, J., Müller, A.J., Palafoll, I.V., Steigerwald, C., Chung, W.K. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2024 Jul;194(7):e63578. doi: 10.1002/ajmg.a.63578. Epub 2024 Feb 29. PMCID: PMC11161304 PMID: 38425142

Sudnawa, K.K., Calamia, S.J., Geltzeiler, A.R., Chung, W.K. Clinical Phenotypes of Individuals with Chung-Jansen Syndrome Across Age Groups. Am J Med Genet A. 2024 Mar;194(3):e63471. doi: 10.1002/ajmg.a.63471. Epub 2023 Nov 13. PMID:37961033.

Baker, B.H., Zhang, S., Simon, J.M., McLarnan, S.M., Chung, W.K., Pearson, B.L. Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. Frontiers Neurosci. 2023 Aug 3;17:1106573. Doi: 10.3389/fnins.2023.1106573. eCollection 2023. PMCID: PMC10435087 PMID: 37599994.

Ganapathi, M., Matsuoka, L.S., March, M., Chung, W.K., Bhoj, E. Heterozygous rare variants NRF2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27; PMC10545729. PMID: 37500725.

Clinical features of PPP2 syndrome type R5D (Jordan’s Syndrome) to support standardization of care. Levine, A.D., Chung, W.K.Cold Spring Harb Mol Case Stud. . 2023 Jul 11;9(3):.a006285. doi: 10.1101/mcs.a006285. PMID: 37500725.

Rolland, T., Cliquet, F., Anney, R.J.L., Moreau, C., Traut, Chung, W.K., Bourgeron, T. Phenotypic effects of genetic variants associated with autism.Nat Med. 2023 Jul;29(7):1671-1680. PMCID: PMC10353945 PMID: 37365347.

Lenaerts, L., Reynhout, S., Verbinnen, I., Laumonnier, F., Chung, W.K., Jannsens. V. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med.2021 Feb;23(2):352-362. Doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. PMCID: PMC7862067. PMID: 33106617.

Ding, Z., Huang, G., Wang, T., Duan, W., Li, H., Chung, W.K., Xiong, B. Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects In Zebrafish and Mice. Biol Psychiatry. 2023 Mar 15:S0006-3223(23)01091-0. doi: 10.1016/j.biopsych.2023.02.993. Online ahead of print. PMID: 36924980.

Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E.G., Chung, W.K., Maroofian,R The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 Feb 9:awad039. doi: 10.1093/brain/awad039. PMID: 36757831.

Flex, E., Albadri, S., Radio, F.C., Cecchetti, S., Lauri, A., Priolo, M., Chung, W.K., Tartaglia, M. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Hum Mol Genet. 2023 Jan 13;32(3):473-488. PMCID: PMC9851748. PMID: 36018820.

Zhang, H., Xu, M.S., Fan, X., Chung, W.K.,Shen, Y.Predicting functional effect of missense variants using graph attention neural networks. Nat Mach Intell. 2022 Nov;4(11):1017–1028. Doi: 10.1038/s42256-022-00561-w. Epub 2020 Nov 15. PMCID: PMC10361701 PMID: 37484202.

Lipman, A., Ziegler, A., Xiao, F., Yufeng, S.,Chung, W.K.Clinical and genetic characterization of CACNA1A-related disease. . Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. PMCID: PMC9458680 (available on 2023-10-01). PMID: 35722745.

Hartnett, M.J., Puryear, M.L., Tavakoli, N.P., Wynn, J.,Chung, W.K.,Brower, A.M. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. Int J Neonatal Screen. 2022 Sep 22;8(4):50. PMCID: PMC9589949. PMID:36278620

Ottman, R., Wetmore, J., Camarillo, I., Rodriguez, S.,Chung, W.K. Reproduction and genetic casual attribution of epilepsy.. Epilepsia. 2022 Sep;63(9):2392-2402.doi: 10.1111/epi.17349. PMCID: PMC10308304 (available on 2023-09-01). PMID: 35759350.

Kury, S., Zhang, J., Besnard, T., Caro-Llopis, Chung, W.K., Isidor, B. Rare  pathogenic variants in WNK3 cause X-linked intellectual disability.Genet Med. 2022 Sep;24(9):1941-1951.doi: 10.1016/j.gim.2022.05.009. PMID: 35678782.

El Achkar, C.M., Rosen, A., Kessler, S.K., Steinman,Chung, W.K., Sherr, E.H. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.Neurol Genet. 2022 Aug 5;8(5):e200018. PMCID: PMC9756306. PMID: 36531974.

Fenster, R., Zieglar, A., Kentros, C., Geltzeiler, A.,Chung, W.K.Characterization of phenotypic range DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Am J Med Genet A. 2022 Jul;188(7):1954-1963. doi: 10.1002/ajmg.a.62721. PMID: 35285131.

Elchehadeh, S.E., Han, K.A., Kim, D.K., Bakhatiri, S., Chung, W.K.,Um, J.W Characterization of phenotypic range DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Nat Commun. 2022 Jul 15;13(1):4112. PMCID: PMC9287327. PMID: 35840571.

Gruber, D., Puryear, M.L., Armstrong, N., Scavina, M., Tavakoli, N.P., Caggana, M.,Chung, W.K.Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):197-205. PMCID: PMC9826042. PMID: 36152336.

Berg, J.S., Botkins, J.R., Brenner, S.E., Broscos, J.P., Brothers, Chung, W.K.Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):222-230. PMCID: PMC9796120. PMID: 35838066.

Kahen, A., Kavus, H., Geltzeiler, A., Kentros, C., Taylor,C., Brooks, E., Greene, L.E.,Chung, W.K.Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. J Med Genet. 2022 Jun;59(6):536-543. doi: 10.1136/jmedgenet-2021-107694. PMID: 34006619.

Mo, A., Snyder, L.G. Sahin, M., Srivastava, SChung, W.K. Neurodevelopmental profile of HIVEP2-related disorder.Dev Med Child Neurol. 2022 May;62(5):654-661. PMCID: PMC8986546. . PMID:34704275.

Almannai, M., Marafi, D., Abdel-Salem, G., Zaki, M., Duan, R., SChung, W.K., El-Hattab, A.W. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.Clin Genet. 2022 May;10(5-6):530-540. PMCID: PMC9359317. PMID: 35322404

Lu, S., Hernan, Marcogliese, P.C., Huang, Y. SChung, W.K.,Bellen, H.J. . Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability and seizures. Am J Hum Genet. 2022 Apr 7;109(4):571-586. PMCID: PMC9069076. PMID:35240055.

Stephenson, S., Costain, G., Blok, L., Silk,Chung, W.K.,Tan, T. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a novel neurodevelopmental syndrome. Am J Hum Genet. 2022 Apr 7;109(4):601-617. PMCID: PMC9069070. PMID: 35395208.

Kumble, S., Levy, A.M., Punetha, J., Gao, H., Ah Mew, N.,Chung, W.K.,Turner, Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. PMID: 34859529.

Chang, S., Snyder, L.G., Shen, Y.,Chung, W.K.Imputing cognitive impairment in SPARK, a large autism cohort. Autism Res. 2022 Jan;15(1):156-170. doi: 10.1002/aur.2622. PMID: 34636158.

Coursimault, J., Guerrot, A.M., Morrow, M.M., Schramm, ,Chung, W.K.,Lecoquierre,F. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan;141(1):65-80.doi: 10.1007/s00439-021-02383-z. PMID: 34748075

Other papers

Fan, X., Wynn, J., Shang, N…,Chung, W.K. SPARKing New Insight Into Autism Across the Lifespan.JAm J Intellect Dev Disabil. 2024 Mar 1;129(2):91-95. doi: 10.1352/1944-7558-129.2.91. PMID: 38411241.

Odeh, M., Sajrawi, C., Majcher, A., Zubedat, S., Chung, W.K.,Wolosker,H. A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations. Brain. 2024 Apr 25:awae134. doi: 10.1093/brain/awae134. Epub ahead of print. PMID:38662784.

Maleyeff, L., Newburger, J.W., Wypij, D., Chung, W.K.,Morton, S.U. Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 Feb;11(2):278-290. doi: 10.1002/acn3.51950. Epub 2023 Nov 27. PMCID: PMC10863927 PMID: 38009418.

Maleyeff, L., Newburger, J.W., Wypij, D., Thomas, N.H Chung, W.K. SPARK Consortium. Evidence-based recruitment strategies for clinical research: Study personnel’s and research participants’ perceptions about successful methods of outreach for a U.S. Autism-Research Cohort. J Clin Transl Sci. 2024 Apr 2;8(1):e65. doi: 10.1017/cts.2024.512. ; PMCID: PMC11058577. PMID: 38690223

C.Daniels, A.M., Law, J.K., Green, S.L., Diehl, K., Chung, W.K. SPARK Consortium. Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism. J Clin Transl Sci. 2023 Dec 14;8(1):e64. doi: 10.1017/cts.2023.697. ; PMCID:PMC11036434 ; PMID:38655455.

Sudnawa, K.K., Calamia, S.J., Geltzeiler, A.R.,,Chung, W.K.,Wolosker, Clinical Phenotypes of Individuals with Chung-Jansen Syndrome Across Age Groups. Am J Med Genet A. 2024 Mar;194(3):e63471. doi: 10.1002/ajmg.a.63471. Epub 2023 Nov 13. PMID: 37961033 .

Maroofian, R., Zamani, M., Kaiyrzhanov, R.,Chung, W.K., Hübner, C. A Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder. Genet Med. 2023 Dec 2:101034. doi: 10.1016/j.gim.2023.101034. Epub ahead of print. PMID: 38054405.

Kayumi, S., Jurado, L.A.P., Palomares, M., Chung, W.K.,Corbett, M. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. PMCID: PMC9939054 (available on 2023-11-01). PMID: 36083290.

Hartnett, M.J., Puryear, M.L., Tavakoli, N.P., Wynn, J.,Chung, W.K.,Brower,A.M. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. Int J Neonatal Screen. 2022 Sep 22;8(4):50.PMCID: PMC9589949. PMID: 36278620.

Tirado-Class, N., Hathaway, C.,Chung, W.K.,Dungrawala, H. PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. Cold Spring Harb Mol Case Stud. 2022 Jul 21;8(5).a006212. PMCID: PMC9528965.PMID: 35863899.

Kernie, C., Wynn, J., Rosenbaum, A., De Voest, J., Galloway, S., Giordano, J., Stover, S.,Chung, W.K. PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. Information is power: The experiences, attitudes and needs of the individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenatal Diagn. 2022 Jun;42(7):947-954. doi: 10.1002/pd.6153. PMID: 35476893.

Chang, S., Snyder, L.G., Shen, Y., Chung, W.K.Imputing cognitive impairment in SPARK, a large autism cohort. Imputing cognitive impairment in SPARK, a large autism cohort. Autism Res. 2022 Jan;15(1):156-170. doi: 10.1002/aur.2622. PMID: 34636158

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