| A translocation causing increased α-klotho level results in hypophosphatemic rickets and hyperparathyroidism CA Brownstein, F Adler, C Nelson-Williams, J Iijima, P Li, A Imura, ... Proceedings of the National Academy of Sciences 105 (9), 3455-3460, 2008 | 253 | 2008 |
| Fluorescence in situ hybridization: cell-based genetic diagnostic and research applications C Cui, W Shu, P Li Frontiers in Cell and Developmental Biology 4, 89, 2016 | 239 | 2016 |
| Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation KM Keeling, DA Brooks, JJ Hopwood, P Li, JN Thompson, DM Bedwell Human Molecular Genetics 10 (3), 291-300, 2001 | 219 | 2001 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ... Genome Biology 15 (3), 1-18, 2014 | 122 | 2014 |
| Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) P Li, AB Bellows, JN Thompson Journal of Medical Genetics 36 (1), 21-27, 1999 | 95 | 1999 |
| The distribution and most recent common ancestor of the 17q21 inversion in humans MP Donnelly, P Paschou, E Grigorenko, D Gurwitz, SQ Mehdi, ... The American Journal of Human Genetics 86 (2), 161-171, 2010 | 84 | 2010 |
| Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases B Xiang, H Zhu, Y Shen, DT Miller, K Lu, X Hu, HC Andersson, ... The Journal of Molecular Diagnostics 12 (2), 204-212, 2010 | 77 | 2010 |
| Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay B Xiang, A Li, D Valentin, NJ Nowak, H Zhao, P Li American Journal of Medical Genetics Part A 146 (15), 1942-1954, 2008 | 77 | 2008 |
| Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature MR Rossi, MS DiMaio, B Xiang, K Lu, H Kaymakcalan, M Seashore, ... American Journal of Medical Genetics Part A 149 (12), 2788-2794, 2009 | 61 | 2009 |
| Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-l-iduronidase (IDUA) gene P Li, T Wood, JN Thompson Genetics in Medicine 4 (6), 420-426, 2002 | 56 | 2002 |
| Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study N Buza, F Xu, W Wu, RJ Carr, P Li, P Hui Human Pathology 45 (9), 1885-1892, 2014 | 46 | 2014 |
| Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia R Bajaj, F Xu, B Xiang, K Wilcox, AJ DiAdamo, R Kumar, ... Mol Cytogenet 4 (3), 1-11, 2011 | 44 | 2011 |
| Vascular smooth muscle cells derived from inbred swine induced pluripotent stem cells for vascular tissue engineering J Luo, L Qin, MH Kural, J Schwan, X Li, O Bartulos, X Cong, Y Ren, L Gui, ... Biomaterials 147, 116-132, 2017 | 40 | 2017 |
| Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization P Li, P Pomianowski, MS DiMaio, JR Florio, MR Rossi, B Xiang, F Xu, ... American Journal of Medical Genetics Part A 155 (7), 1605-1615, 2011 | 39 | 2011 |
| Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement P Li, HZ Zhang, S Huff, M Nimmakayalu, M Qumsiyeh, J Yu, A Szekely, ... American Journal of Medical Genetics Part A 140 (24), 2721-2729, 2006 | 39 | 2006 |
| Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples Q Zhou, SY Wu, K Amato, A DiAdamo, P Li Journal of Genetics and Genomics 43 (3), 121-131, 2016 | 37 | 2016 |
| A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia X Yang, Q Zhou, W Zhou, M Zhong, X Guo, X Wang, X Fan, S Yan, L Li, ... Advanced Science 6 (11), 1802332, 2019 | 36 | 2019 |
| FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6 HZ Zhang, P Li, D Wang, S Huff, M Nimmakayalu, M Qumsiyeh, BR Pober American Journal of Medical Genetics Part A 124 (3), 280-287, 2004 | 36 | 2004 |
| Double-minute MYC amplification and deletion of MTAP, CDKN2A/CDKN2B and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization A Kamath, H Tara, B Xiang, R Bajaj, W He, P Li Cancer Genetics and Cytogenetics 183 (2), 117-120, 2008 | 35 | 2008 |
| Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss C Zhao, H Chai, Q Zhou, J Wen, UM Reddy, R Kastury, Y Jiang, W Mak, ... Genetics in Medicine 23, 435-442, 2021 | 34 | 2021 |
Hongyu ZhaoYale University在 yale.edu 的电子邮件经过验证
