| 1q21. 1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number J Xavier, B Zhou, F Bilan, X Zhang, B Gilbert-Dussardier, S Viaux-Savelon, ... npj Genomic Medicine 3 (1), 24, 2018 | 9 | 2018 |
| 20.2 ANALYZING THE MOLECULAR EFFECTS OF LARGE NEUROPSYCHIATRIC CNVS WITH IPSC BASED NEURONAL TISSUE CULTURE MODELS A Urban Schizophrenia Bulletin 44 (suppl_1), S33-S33, 2018 | | 2018 |
| 46, XY disorders of sex development and congenital diaphragmatic hernia: A case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly ED Esplin, H Chaib, M Haney, B Martin, M Homeyer, AE Urban, ... American Journal of Medical Genetics Part A 167 (6), 1360-1364, 2015 | 5 | 2015 |
| 480 The spectrum of oligogenic variants in the RAS pathway in a PHACE cohort D Siegel, E Partan, O Davies, S Chamlin, B Drolet, A Mancini, ... Journal of Investigative Dermatology 142 (8), S81, 2022 | | 2022 |
| 81. RESOLVING THE EXACT BREAKPOINTS AND SEQUENCE REARRANGEMENTS OF LARGE NEUROPSYCHIATRIC COPY NUMBER VARIATIONS (CNVS) AT SINGLE BASE-PAIR RESOLUTION USING CRISPR-TARGETED … B Zhou, GW Shin, L Vervoort, S Greer, Y Huang, T Roychowdhury, ... European Neuropsychopharmacology 63, e88-e89, 2022 | | 2022 |
| A comprehensive map of mobile element insertion polymorphisms in humans C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ... PLoS genetics 7 (8), e1002236, 2011 | 324 | 2011 |
| A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex LA Huuki-Myers, A Spangler, NJ Eagles, KD Montgomery, SH Kwon, ... Science 384 (6698), eadh1938, 2024 | 4 | 2024 |
| A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061-1073, 2010 | 8797 | 2010 |
| A procedure for highly specific, sensitive, and unbiased whole-genome amplification X Pan, AE Urban, D Palejev, V Schulz, F Grubert, Y Hu, M Snyder, ... Proceedings of the National Academy of Sciences 105 (40), 15499-15504, 2008 | 138 | 2008 |
| A Role of Genomic Copy Number Variation in the Complex Behavioral Phenotype of Alcohol Dependence: A Commentary AE Urban Alcoholism: Clinical and Experimental Research 36 (9), 1483-1486, 2012 | | 2012 |
| Abstract S08-01: Highly sensitive and full-genome interrogation of SARS-CoV-2 using multiplexed PCR enrichment followed by next-generation sequencing C Li, DN Debruyne, J Spencer, V Kapoor, LY Liu, B Zhou, U Pandey, ... Clinical Cancer Research 26 (18 Supplement), S08-01-S08-01, 2020 | 1 | 2020 |
| Allele-specific binding of RNA-binding proteins reveals functional genetic variants in the RNA EW Yang, JH Bahn, EYH Hsiao, BX Tan, Y Sun, T Fu, B Zhou, ... Nature communications 10 (1), 1338, 2019 | 45 | 2019 |
| Analysis of aberrant and normal copy-number variation of human chromosome 22 AE Urban Yale University, 2007 | | 2007 |
| Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history PM Kim, HYK Lam, AE Urban, JO Korbel, J Affourtit, F Grubert, X Chen, ... Genome research 18 (12), 1865-1874, 2008 | 185 | 2008 |
| Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability T Bae, L Fasching, Y Wang, JH Shin, M Suvakov, Y Jang, S Norton, ... Science 377 (6605), 511-517, 2022 | 37 | 2022 |
| Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling ES Partan, F Blei, SL Chamlin, OMT Davies, BA Drolet, IJ Frieden, ... medRxiv, 2021 | | 2021 |
| ANALYZING THE MOLECULAR NETWORK EFFECTS OF LARGE NEUROPSYCHIATRIC CNVS WITH IPSC BASED NEURONAL TISSUE CULTURE MODELS C Purmann, S Ma, S Zhang, T Ward, E Huang, R Pattni, J Hallmayer, ... EUROPEAN NEUROPSYCHOPHARMACOLOGY 29, 1060-1060, 2019 | | 2019 |
| Annual Research Review: The promise of stem cell research for neuropsychiatric disorders FM Vaccarino, AE Urban, HE Stevens, A Szekely, A Abyzov, ... Journal of Child Psychology and Psychiatry 52 (4), 504-516, 2011 | 41 | 2011 |
| Application of emerging genomics and epigenomics technologies to the analysis of 22q11 deletion syndrome AE Urban, X Pan, Y Tang, J Lian, A Szekely, Z Lian, G Euskirchen, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 130 (1 …, 2004 | | 2004 |
| Application of ultra-high resolution fine-tiling array CGH (FT-CGH) to the analysis of 22q11 deletion syndrome A Urban, R Selzer, T Richmond, G Popescu, JF Cubells, R Green, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 138 (1 …, 2005 | 2 | 2005 |
Mark GersteinProfessor of Biomedical Informatics, Yale University在 yale.edu 的电子邮件经过验证
