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 | 534 | 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 | 309 | 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 | 294 | 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 | 285 | 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 | 225 | 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 | 202 | 2012 |
DSDs: genetics, underlying pathologies and psychosexual differentiation VA Arboleda, DE Sandberg, E Vilain Nature Reviews Endocrinology 10 (10), 603-615, 2014 | 181 | 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 | 160 | 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 | 135 | 2015 |
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 | 106 | 2017 |
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 | 102* | 2021 |
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 | 102 | 2013 |
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 | 93 | 2019 |
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 | 89 | 2018 |
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 | 87 | 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), 2021 | 67 | 2021 |
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 | 60 | 2005 |
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 | 49 | 2016 |
MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1 JR Contreras, JK Palanichamy, TM Tran, TR Fernando, ... Oncotarget 6 (13), 11023, 2015 | 49 | 2015 |
Disorders of sex development V Arboleda, E Vilain Genetic diagnosis of endocrine disorders, 259-278, 2016 | 44 | 2016 |