Jessica X. Chong, Ph.D.
Affiliations: | 2012 | Human Genetics | University of Chicago, Chicago, IL |
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"Jessica Chong"Mean distance: 23748
Parents
Sign in to add mentor| Carole Ober | grad student | 2012 | Chicago | |
| (Studies of autosomal recessive disease mutations in a founder population.) | ||||
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Publications
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| Muntadas JA, Hyland MR, Martínez MDRO, et al. (2024) Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. Bmc Medical Genomics. 17: 207 |
| Blue EE, Moore KJ, North KE, et al. (2024) Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. Birth Defects Research. 116: e2384 |
| Mansoorshahi S, Yetman AT, Bissell MM, et al. (2024) Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications. Medrxiv : the Preprint Server For Health Sciences |
| Blue EE, White JJ, Dush MK, et al. (2023) Rare variants in increase risk for isolated hypoplastic left heart syndrome. Hgg Advances. 4: 100232 |
| Li J, Yang W, Wang YJ, et al. (2022) Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. American Journal of Medical Genetics. Part A |
| Tran TT, Keller RB, Guillemyn B, et al. (2021) Biallelic variants in , which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta. Hgg Advances. 2: 100051 |
| Miller DE, Sulovari A, Wang T, et al. (2021) Targeted long-read sequencing identifies missing disease-causing variation. American Journal of Human Genetics |
| Diez-Fairen M, Houle G, Ortega-Cubero S, et al. (2020) Exome-wide rare variant analysis in familial essential tremor. Parkinsonism & Related Disorders. 82: 109-116 |
| Chong JX, Talbot JC, Teets EM, et al. (2020) Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. American Journal of Human Genetics |
| Karczewski KJ, Francioli LC, Tiao G, et al. (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 581: 434-443 |