| Yen & Jaffe's Reproductive Endocrinology-E-Book: Physiology, Pathophysiology, and Clinical Management JF Strauss, RL Barbieri, A Dokras, CJ Williams, SZ Williams Elsevier Health Sciences, 2023 | 585 | 2023 |
| Mutant cohesin in premature ovarian failure S Caburet, VA Arboleda, E Llano, PA Overbeek, JL Barbero, K Oka, ... New England Journal of Medicine 370 (10), 943-949, 2014 | 333 | 2014 |
| Identification of SOX3 as an XX male sex reversal gene in mice and humans E Sutton, J Hughes, S White, R Sekido, J Tan, V Arboleda, N Rogers, ... The Journal of clinical investigation 121 (1), 328-341, 2011 | 315 | 2011 |
| Highly efficient small interfering RNA delivery to primary mammalian neurons induces MicroRNA-like effects before mRNA degradation TJ Davidson, S Harel, VA Arboleda, GF Prunell, ML Shelanski, LA Greene, ... Journal of Neuroscience 24 (45), 10040-10046, 2004 | 293 | 2004 |
| Exome sequencing for the diagnosis of 46, XY disorders of sex development RM Baxter, VA Arboleda, H Lee, H Barseghyan, MP Adam, PY Fechner, ... The Journal of Clinical Endocrinology & Metabolism 100 (2), E333-E344, 2015 | 253 | 2015 |
| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, ... Nature genetics 44 (7), 788-792, 2012 | 219 | 2012 |
| DSDs: genetics, underlying pathologies and psychosexual differentiation VA Arboleda, DE Sandberg, E Vilain Nature Reviews Endocrinology 10 (10), 603-615, 2014 | 216 | 2014 |
| Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis S White, T Ohnesorg, A Notini, K Roeszler, J Hewitt, H Daggag, C Smith, ... PloS one 6 (3), e17793, 2011 | 176 | 2011 |
| De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay VA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ... The American Journal of Human Genetics 96 (3), 498-506, 2015 | 159 | 2015 |
| Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples JS Bloom, L Sathe, C Munugala, EM Jones, M Gasperini, NB Lubock, ... Nature Biomedical Engineering 5 (7), 657-665, 2021 | 125* | 2021 |
| KAT6A syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 123 | 2019 |
| Loss of nardilysin, a mitochondrial co-chaperone for α-ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration WH Yoon, H Sandoval, S Nagarkar-Jaiswal, M Jaiswal, S Yamamoto, ... Neuron 93 (1), 115-131, 2017 | 122 | 2017 |
| Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits MK Freund, K Burch, H Shi, N Mancuso, G Kichaev, KM Garske, DZ Pan, ... bioRxiv, 324558, 2018 | 116 | 2018 |
| Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development VA Arboleda, H Lee, FJ Sánchez, EC Délot, DE Sandberg, WW Grody, ... Clinical genetics 83 (1), 35-43, 2013 | 114 | 2013 |
| A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing MS Bramble, EH Goldstein, A Lipson, T Ngun, A Eskin, JE Gosschalk, ... Human Reproduction 31 (4), 905-914, 2016 | 98 | 2016 |
| Metabolic reprogramming and epigenetic changes of vital organs in SARS-CoV-2–induced systemic toxicity S Li, F Ma, T Yokota, G Garcia Jr, A Palermo, Y Wang, C Farrell, YC Wang, ... JCI insight 6 (2), e145027, 2021 | 89 | 2021 |
| Sex-specific effects of testosterone on the sexually dimorphic transcriptome and epigenome of embryonic neural stem/progenitor cells MS Bramble, L Roach, A Lipson, N Vashist, A Eskin, T Ngun, ... Scientific reports 6 (1), 36916, 2016 | 62 | 2016 |
| Caspase function in neuronal death: delineation of the role of caspases in ischemia GF Prunell, VA Arboleda, CM Troy Current Drug Targets-CNS & Neurological Disorders 4 (1), 51-61, 2005 | 58 | 2005 |
| MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1 JR Contreras, JK Palanichamy, TM Tran, TR Fernando, ... Oncotarget 6 (13), 11023, 2015 | 54 | 2015 |
| Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative R Johnson, Y Ding, V Venkateswaran, A Bhattacharya, K Boulier, A Chiu, ... Genome medicine 14 (1), 104, 2022 | 45 | 2022 |
Eric VilainUniversity of California, IrvineVerified email at uci.edu
