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Jiani Chen, MS, LCGC
Jiani Chen, MS, LCGC
Children's hospital of Philadelphia
Verified email at email.chop.edu
Title
Cited by
Cited by
Year
A novel procedure for absolute real-time quantification of gene expression patterns
Y Lu, L Xie, J Chen
Plant Methods 8, 1-11, 2012
532012
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ...
European Journal of Human Genetics 27 (5), 747-759, 2019
482019
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Y Peng, DN Shinde, CA Valencia, JS Mo, J Rosenfeld, M Truitt Cho, ...
Human molecular genetics 26 (24), 4937-4950, 2017
442017
Loss of oxidation resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction
J Wang, J Rousseau, E Kim, S Ehresmann, YT Cheng, L Duraine, Z Zuo, ...
The American Journal of Human Genetics 105 (6), 1237-1253, 2019
412019
Dominant collagen XII mutations cause a distal myopathy
P Mohassel, T Liewluck, Y Hu, D Ezzo, T Ogata, D Saade, S Neuhaus, ...
Annals of clinical and translational neurology 6 (10), 1980-1988, 2019
292019
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”
A Costantini, H Valta, NV Baratang, P Yap, DR Bertola, GL Yamamoto, ...
Bone 121, 163-171, 2019
212019
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma
Y Zhong, F Lin, F Xu, J Schubert, J Wu, L Wainwright, X Zhao, K Cao, ...
Cancer Genetics 252, 37-42, 2021
102021
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma
F Xu, AN Viaene, J Ruiz, J Schubert, J Wu, J Chen, K Cao, W Fu, ...
Acta Neuropathologica Communications 10 (1), 102, 2022
92022
Deciphering Developmental Disorders (DDD) Study
M Zweier, A Begemann, K McWalter, MT Cho, L Abela, S Banka, ...
Finnila, CR, Guillen Sacoto, MJ, Henderson, A., Hüffmeier, U., Joset, P …, 2019
72019
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis
C Kotch, MJ Fisher, F Lin, Y Zhong, D Gallo, Z Fan, J Chen, M Santi, ...
Cancer Genetics 262, 1-4, 2022
22022
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumor-only versus paired tumor-normal sequencing
H Newman, ME Clark, D Wong, J Wu, GM Brodeur, SP Hunger, SK Tasian, ...
Haematologica, 2020
12020
28. Identification of TP53 germline variants in pediatric patients undergoing tumor testing
M Luo, S Macfarland, K Zelley, F Lin, D Gallo, J Wu, J Schubert, ...
Cancer Genetics 260, 10, 2022
2022
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