PUBLICATIONS: Research

1.     Yoon WH, Sandoval H, Jaiswal SN, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti A, Graham B, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, and Bellen HJ. Nardilysin Chaperones Mitochondrial Oxoglutarate Dehydrogenase and Protects against the Demise of Neurons in Flies and Human. Neuron. 2016 Dec 18. PMID: 28017472.

2.     Bramble MS, Roach L, Lipson A, Eskin A, Vashist N, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells. Scientific Reports. PMID: 27845378.

3.     Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H; Lee E; Arboleda VA; Vaiman D; Yuksel Z; Fellous M; Vilain E. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Human Reproduction. 2016. PMID: 27845378 

4.     Contreras JR, Palanichamy JK, Tran TM, Fernando TR, Rodriguez-Malave NI, Goswami N, Arboleda VA, Casero D, Rao DS. MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1. Oncotarget. 2015 April 13. PMCID: PMC4484436

5.     Borges KS, Arboleda VA*, Vilain E. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Division. 2015 Mar 28. (*Corresponding Author) PMCID: PMC4389716

6.     Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning M, Kwan A, Hudgins L, Strom SP, Deignan JL, UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense variants in KAT6A, a Lysine Acetyl-Transferase gene, causes a syndrome including Microcephaly and Global Developmental Delay. American Journal of Human Genetics. 2015 Feb 26. PMCID: PMC4375619.

7.     Baxter RM, Arboleda VA, Lee, H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. The Journal of Clinical Endocrinology & Metabolism, 2014 Nov 10.

8.     Arboleda VA, Fleming A, Barseghyan H, Delot EC, Sinsheimer JS, Vilain E. Regulation of Sex Determination in Mice by a Non-Coding Genomic Region. Genetics. 2014 May 2.

9.     Caburet S*, Arboleda VA*, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Homozygous deletion in the STAG3 cohesin gene leads to Premature Ovarian Failure. New England Journal of Medicine. 2014 March 7. PMCID: PMC4068824.

10.  Arboleda VA, Lee H, Parnaik R, Banerjee A, Ferraz-de-Souza B,  Braslavsky D, Bergadá I , Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E.. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe Syndrome. Nature Genetics. 2012 May 27. **Featured in News and Views 2012.

11.  Arboleda VA, Lee H, Sanchez F, Delot EC, Sandberg DE, Grody W, Nelson SF, Vilain E. Targeted Massively Parallel Sequencing Provides Comprehensive Genetic Diagnosis for Patients with Disorders of Sex Development. Clinical Genetics. 2012 Mar 15. PMCID: PMC4068824

12.  White S., Ohnesorg T., Notini A., Smith C., Hewitt J., Daggag H., Roeszler K., Turbitt E., Gustin S., van den Bergen J., Miles D., Western P., Arboleda, VA, Schumacher V., Gordon L., Bell K., Bengtsson H., Speed T., Hutson J., Warne G., Harley V., Koopman P., Vilain E., Sinclair A. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLOS One. 2011 Mar 7;6(3):e17793. PMCID: PMC3049794

13.  Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J. Clin Invest. 2011 Jan 4;121(1):328-41.3. PMCID: PMC3007141    

14.  Davidson TJ, Harel S, Arboleda VA, Shelanski ML, Greene LA, Troy CM. Highly efficient siRNA delivery to primary mammalian neurons induces microRNA- like effects before mRNA degradation. J. Neurosci. 24 (45):10040-6. 2004.

 

PUBLICATIONS: CLINICAL PATHOLOGY

15.  Woo JS, Arboleda VA, Garner OB. Point-of-Care Testing in infectious disease. In press. Clinical Microbiology Newsletter. 2017

16.  Arboleda VA, Garner OB. Reigning in the beast: Ensuring quality laboratory testing in the point of care testing in the Ambulatory Care Setting. American Journal of Clinical Pathology, October 2017.

17.  Arboleda VA, Lee S. Lymphoma and gout coexisting in the same joint fluid. Blood Work. Blood. 2015 May 14. 125(20):3213. PMID: 26171482

 

Reviews and Chapters

1.     Arboleda VA, Xian RR. An Overview of DNA analytical methods. Chapter 20.  Methods in Molecular Biology: Biobanking. Springer. In press.

2.     Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nature Endocrinology Reviews. 2014 Aug 5. PMCID: PMC4096368

3.     Arboleda VA, Vilain E. “Disorders of Sex Development”. Chapter 16. Yen and Jaffe's Reproductive Endocrinology: Physiology, Pathophysiology, and Clinical Management. 7th edition. Ed Stauss JF III, R.L.Barbieri. Elsevier. 2013.

4.     Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Mol Genet Metab. 2011 Sep-Oct;104(1-2):67-71. PMCID: PMC3171521.

5.     Arboleda VA,.Fleming A, Vilain E. “Disorders of Sex Development”. Genetic Diagnosis of Endocrine Disorders. Eds. R. Weiss and S. Refetoff. McGraw-Hill. 2010.

6.     Prunell GF, Arboleda VA, Troy CM. Caspase Function in Neuronal Death: Delineation of the role of Caspases in Ischemia. Current drug targets - CNS and Neurological disorders. 4(1): 51-61. February 2005.