Jiani Chen, MS, LCGC

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Jiani Chen, MS, LCGC, is a genetic counselor in the Division of Genomic Diagnostics at Children's Hospital of Philadelphia.

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Board Certification

Licensed Certified Genetic Counselor (LCGC)

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

Titles and Academic Titles

Licensed Genetic Counselor

Departments and Services




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.


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.


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.


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.


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


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




Genetic Counseling Today. People's Medical Publishing House. ISBN: 978-7-117-26102-9 (participated in writing of two chapters). 2007

Posters and Presentations


Wu J, Schubert J, Xu F, Long A, Patel M, Golenberg N, Chen J, Denenberg E, Fanning E, Bagatell R, Laetsch T, Resnick A, Santi M, Storm P, Luo M, Surrey L, Zhong Y, Li M. The spectrum of FGFR mutations in pediatric and young adult solid tumor. Presented at the American Association for Cancer Research (AACR) annual meeting 2022, April 8-13, New Orleans, Louisiana.

Xu F, Cao K, Lin Fu, Welsh M, Long A, Schubert J, Wu J, Chen J, Fanning E, Denenberg E, Fan Z, Zhong Y, Santi M, Resnick AC, Storm PJ, Li MM. Whole transcriptome sequencing for hard-to-diagnose or difficult- to-treat pediatric cancers. Presented at Personalizing Pediatric Cancer Care Innovation Through Collaboration, March 10-11, 2022, Philadelphia, Pennsylvania.


Xu F, Cao K, Lin Fu, Welsh M, Long A, Wu J, Schubert J, Chen J, Fanning E, Fan ZE, Resnick AC, Storm PB, Li MM. Translating transcriptome sequencing into clinical diagnostics for pediatric solid tumors. Presented at the Association for Molecular Pathology (AMP) 2021 Annual Meeting, Nov 15-19, Digital Experience.

Muir AM, Fan ZE, Cao K, Lin F, Luo M, Zhong Y, Surrey L, Wertheim G, Schubert J, Wu J, Fanning EA, Chen J, Denenberg EH, Rheingold SR, McFarland S, Tasian SK, Hunger SP, Li MM. NUDT15 variants associated with thiopurine toxicity in 1,643 pediatric leukemia patients. Presented at the 2021 American Society of Human Genetics virtual meeting, Oct 18-22.

Luo M, Mcfarland S, Zelley K, Lin F, Gallo D, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Jung H, Conlin L, Wertheim GB, Zhong Y, Lea S, Brodeur GM, Li MM. Identification of TP53 germline variants in pediatric patients undergoing tumor testing. Presented at the Cancer Genomics Consortium Annual Meeting 2021.

Kotch C, Fisher MJ, Zhong Y, Gallo D, Fan Z, Lin F, Chen J, Santi M, Li M. Atypical Teratoid Rhabdoid Tumor in a Child With Neurofibromatosis Type 2: A Novel Dual Diagnosis. Presented at the 2021 American College of Medical Genetics Annual Clinical Genetics Meeting, Digital Edition.

Zhong Y, Wu J, Lin F, Luo M, Surrey L, Schubert J, Patel M, Xu F, Pechter KB, Cao K, Gallo D, Denenberg EH, Fanning EA, Chen J, Fan Z, MacFarland S, Paessler M, Margolskee E, Pillai V, Aplenc R, Bernt KM, Rheingold SR, Tasian SK, Hunger S, Wertheim G, Li M. Genomic Characterization of 747 Pediatric Hematological Malignancies. Presented at the 2021 American College of Medical Genetics Annual Clinical Genetics Meeting, Digital Edition.


Chen J, Fanning E, Wierenga KJ, DeMarzo D, Wright A. A rare missense variant In GORAB causes Geroderma Osteodysplastica. Presented at the 2020 American College of Medical Genetics Annual Clinical Genetics Meeting, Digital Edition.

Jung H, Hartman T, Chen J, Patel M, Conlin L, Krantz I, Luo M. Employing the refined ClinGen guidelines improves hearing loss clinical diagnosis. Presented at the 2020 American College of Medical Genetics Annual Clinical Genetics Meeting, Digital Edition.