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Valerie Arboleda MD PhD
Valerie Arboleda MD PhD
David Geffen School of Medicine
Verified email at mednet.ucla.edu - Homepage
Title
Cited by
Cited by
Year
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
5282023
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
3072014
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
2932011
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
2852004
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
2232015
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
1982012
DSDs: genetics, underlying pathologies and psychosexual differentiation
VA Arboleda, DE Sandberg, E Vilain
Nature Reviews Endocrinology 10 (10), 603-615, 2014
1762014
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
1602011
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
1342015
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
1032017
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
1012013
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
892019
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
882018
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
852016
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
662021
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
602005
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
492016
MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1
JR Contreras, JK Palanichamy, TM Tran, TR Fernando, ...
Oncotarget 6 (13), 11023, 2015
482015
Disorders of sex development
V Arboleda, E Vilain
Genetic diagnosis of endocrine disorders, 259-278, 2016
442016
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