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Arboleda, Valerie A

Title(s)Assistant Professor-in-Residence, Pathology And Laboratory Medicine
Phone33568
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    Other Positions
    Title(s)Assistant Professor-in-Residence, Human Genetics


    Collapse Research 
    Collapse Research Activities and Funding
    Dissecting the spectrum of genetic architectures underlying congenital heart defects.
    NIH/NHLBI R03HL150604Jan 1, 2020 - Dec 31, 2021
    Role: Principal Investigator
    Unraveling correlations between Mendelian and common disease using functional genomics
    NIH DP5OD024579Sep 1, 2017 - Aug 31, 2022
    Role: Principal Investigator
    Identifying Novel Sex Determination Genes that protect from B6-YPOS Sex Reversal
    NIH/NICHD F31HD068136Apr 1, 2011 - Jun 30, 2012
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Arboleda VA, Xian RR. An Overview of DNA Analytical Methods. Methods Mol Biol. 2019; 1897:385-402. PMID: 30539459.
      View in: PubMed
    2. Freund MK, Burch KS, Shi H, Mancuso N, Kichaev G, Garske KM, Pan DZ, Miao Z, Mohlke KL, Laakso M, Pajukanta P, Pasaniuc B, Arboleda VA. Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits. Am J Hum Genet. 2018 10 04; 103(4):535-552. PMID: 30290150.
      View in: PubMed
    3. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Arboleda VA, Newbury-Ecob R. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019 04; 21(4):850-860. PMID: 30245513.
      View in: PubMed
    4. Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. Am J Med Genet A. 2018 12; 176(12):2829-2834. PMID: 30244526.
      View in: PubMed
    5. Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biol Sex Differ. 2018 01 30; 9(1):8. PMID: 29378665.
      View in: PubMed
    6. Arboleda VA, Garner OB. Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting. Am J Clin Pathol. 2017 Oct 01; 148(4):336-344. PMID: 28967953.
      View in: PubMed
    7. Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. PMID: 28017472.
      View in: PubMed
    8. Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, 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. Sci Rep. 2016 11 15; 6:36916. PMID: 27845378.
      View in: PubMed
    9. 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. Hum Reprod. 2016 Apr; 31(4):905-14. PMID: 26911863.
      View in: PubMed
    10. Arboleda VA, Lee S. Lymphoma and gout coexisting in the same joint fluid. Blood. 2015 May 14; 125(20):3213. PMID: 26171482.
      View in: PubMed
    11. 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 May 10; 6(13):11023-37. PMID: 25906746.
      View in: PubMed
    12. 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 Div. 2015; 10:2. PMID: 25861374.
      View in: PubMed
    13. Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL, Grody WW, Vilain E, Nelson SF. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. PMID: 25728775.
      View in: PubMed
    14. 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. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. PMID: 25383892.
      View in: PubMed
    15. Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. PMID: 25091731.
      View in: PubMed
    16. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 2014 Jul; 197(3):885-97. PMID: 24793290.
      View in: PubMed
    17. 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. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 06; 370(10):943-949. PMID: 24597867.
      View in: PubMed
    18. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. PMID: 22634751.
      View in: PubMed
    19. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet. 2013 Jan; 83(1):35-43. PMID: 22435390.
      View in: PubMed
    20. 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. PMID: 21795084.
      View in: PubMed
    21. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, 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 07; 6(3):e17793. PMID: 21408189.
      View in: PubMed
    22. 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; 121(1):328-41. PMID: 21183788.
      View in: PubMed
    23. Prunell GF, Arboleda VA, Troy CM. Caspase function in neuronal death: delineation of the role of caspases in ischemia. Curr Drug Targets CNS Neurol Disord. 2005 Feb; 4(1):51-61. PMID: 15723613.
      View in: PubMed
    24. Davidson TJ, Harel S, Arboleda VA, Prunell GF, Shelanski ML, Greene LA, Troy CM. Highly efficient small interfering RNA delivery to primary mammalian neurons induces MicroRNA-like effects before mRNA degradation. J Neurosci. 2004 Nov 10; 24(45):10040-6. PMID: 15537872.
      View in: PubMed