Jiani Chen, MS, LCGC
About Jiani Chen, MS, LCGC
Titles
Licensed Genetic Counselor
Certifications
Licensed Certified Genetic Counselor (LCGC)
Education & training
Undergraduate Degree
BS in Animal & Plant Quarantine - Huazhong Agriculture University, Wuhan, China
Graduate Degree
MS in Genetic Counseling - The University of Oklahoma Health Sciences Center, Oklahoma City, OK
MS in Botany - Graduate University of Chinese Academy of Sciences, Beijing, China
Publications
Publications
2021
Kotch C, Fisher MJ, Lin F, Zhong Y, Gallo D, Fan Z, Chen J, Santi M, Li MM. Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis. Cancer Genet. 2021 Dec 22;262- 263:1-4. PMID: 34972035.
2020
Zhong Y, Lin F, Xu F, Schubert J, Wu J, Wainwright L, Zhao X, Cao K, Fan Z, Chen J, Lang SS, Kennedy BC, Viaene AN, Santi M, Resnick AC, Storm PB, Li MM. Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma. Cancer Genet. 2020 Dec 11;252-253:37-42. PMID: 33341678.
2019
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Loss of Oxidation Resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. American Journal Human Genetics. 2019 Dec, 105(6). PMID: 31785787.
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG. Dominant collagen XII mutations cause a distal myopathy. Annals of Clinical Translational Neurology. 2019 October, 6(10). PMID: 31509352.
Zweier M, Begemann A, McWalter K, Cho M T, Abela L, Banka S, Behring B, Berger A, Brown C, Carneiro M, Chen J, Cooper GM, Deciphering Developmental Disorders (DDD) Study, Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, ... Rauch A. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics. 2019 May; 27(5). PMID: 30664714.
2018
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Makitie O, and Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures ". Bone. 2018, 12.020. PMID: 30599297.
2017
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 Dec 15; 26(24):4937- 4950. PMID: 29040572
2012
Lu Y, Xie L, Chen J. A novel procedure for absolute real-time quantification of gene expression patterns. Plant Methods. 2012, 8:9. PMID: 22404915
Editorials, Reviews, Chapters
2007
Genetic Counseling Today. People's Medical Publishing House. ISBN: 978-7-117-26102-9 (participated in writing of two chapters). 2007