A novel procedure for absolute real-time quantification of gene expression patterns Y Lu, L Xie, J Chen Plant Methods 8, 1-11, 2012 | 53 | 2012 |
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 | 48 | 2019 |
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 | 44 | 2017 |
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 | 41 | 2019 |
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 | 29 | 2019 |
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 | 21 | 2019 |
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 | 10 | 2021 |
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 | 9 | 2022 |
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 | 7 | 2019 |
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 | 2 | 2022 |
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 | 1 | 2020 |
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 |