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Valerie A Arboleda

Title(s)Assistant Professor-in-Residence, Pathology and Laboratory Medicine
SchoolMedicine
Address760 Westwood Plaza 337
Los Angeles CA 90024
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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2020 Nov; 22(11):1920. 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, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 32814847.
      View in: PubMed   Mentions:    Fields:    
    2. Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing. medRxiv. 2020 Sep 03. Bloom JS, Jones EM, Gasperini M, Lubock NB, Sathe L, Munugala C, Booeshaghi AS, Brandenberg OF, Guo L, Boocock J, Simpkins SW, Lin I, LaPierre N, Hong D, Zhang Y, Oland G, Choe BJ, Chandrasekaran S, Hilt EE, Butte MJ, Damoiseaux R, Cooper AR, Yin Y, Pachter L, Garner OB, Flint J, Eskin E, Luo C, Kosuri S, Kruglyak L, Arboleda VA. PMID: 32909008.
      View in: PubMed   Mentions:
    3. An Overview of DNA Analytical Methods. Methods Mol Biol. 2019; 1897:385-402. Arboleda VA, Xian RR. PMID: 30539459.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. 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. 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. PMID: 30290150.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    5. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019 04; 21(4):850-860. 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, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 30245513.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    6. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. . 2018 12; 176(12):2829-2834. 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. PMID: 30244526.
      View in: PubMed   Mentions:
    7. 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. 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. PMID: 29378665.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    8. 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. Arboleda VA, Garner OB. PMID: 28967953.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    9. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. 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. PMID: 28017472.
      View in: PubMed   Mentions: 31     Fields:    Translation:AnimalsCells
    10. 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. Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. PMID: 27845378.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    11. 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. 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. PMID: 26911863.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    12. Lymphoma and gout coexisting in the same joint fluid. Blood. 2015 May 14; 125(20):3213. Arboleda VA, Lee S. PMID: 26171482.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1. Oncotarget. 2015 May 10; 6(13):11023-37. Contreras JR, Palanichamy JK, Tran TM, Fernando TR, Rodriguez-Malave NI, Goswami N, Arboleda VA, Casero D, Rao DS. PMID: 25906746.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    14. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015; 10:2. Borges KS, Arboleda VA, Vilain E. PMID: 25861374.
      View in: PubMed   Mentions:
    15. 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. 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. PMID: 25728775.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    16. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. 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. PMID: 25383892.
      View in: PubMed   Mentions: 37     Fields:    Translation:Humans
    17. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. Arboleda VA, Sandberg DE, Vilain E. PMID: 25091731.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansAnimals
    18. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 2014 Jul; 197(3):885-97. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. PMID: 24793290.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    19. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 06; 370(10):943-949. 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. PMID: 24597867.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansAnimals
    20. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. 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. PMID: 22634751.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    21. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet. 2013 Jan; 83(1):35-43. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. PMID: 22435390.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    22. 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. Arboleda VA, Vilain E. PMID: 21795084.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    23. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793. 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. PMID: 21408189.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    24. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan; 121(1):328-41. 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. PMID: 21183788.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansAnimalsCells
    25. 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. Prunell GF, Arboleda VA, Troy CM. PMID: 15723613.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    26. 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. Davidson TJ, Harel S, Arboleda VA, Prunell GF, Shelanski ML, Greene LA, Troy CM. PMID: 15537872.
      View in: PubMed   Mentions: 76     Fields:    Translation:AnimalsCells