Valerie A Arboleda

Title(s)Assistant Professor, Pathology and Laboratory Medicine
SchoolMedicine
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    Other Positions
    Title(s)Assistant Professor, Human Genetics


    Collapse Research 
    Collapse Research Activities and Funding
    Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems
    NIH R01HG011345Sep 16, 2020 - Jul 31, 2024
    Role: Co-Principal Investigator
    Dissecting the spectrum of genetic architectures underlying congenital heart defects.
    NIH 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 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. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 Sep 14; e1809. Hanna RF, Ward TJ, Chow DS, Lagana SM, Moreira RK, Emond JC, Weintraub JL, Prince MR, Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. PMID: 34519438.
      View in: PubMed   Mentions:    Fields:    
    2. Lean Principles to Improve Quality in High-Throughput COVID-19 Testing Using SwabSeq: A Barcoded Sequencing-Based Testing Platform. Lab Med. 2021 Aug 26. Jones J, Saul R, Sathe L, Xie J, Marquette D, Arboleda VA. PMID: 34436601.
      View in: PubMed   Mentions:    Fields:    
    3. Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples. Nat Biomed Eng. 2021 07; 5(7):657-665. Bloom JS, Sathe L, Munugala C, Jones EM, Gasperini M, Lubock NB, Yarza F, Thompson EM, Kovary KM, Park J, Marquette D, Kay S, Lucas M, Love T, Sina Booeshaghi A, Brandenberg OF, Guo L, Boocock J, Hochman M, Simpkins SW, Lin I, LaPierre N, Hong D, Zhang Y, Oland G, Choe BJ, Chandrasekaran S, Hilt EE, Butte MJ, Damoiseaux R, Kravit C, Cooper AR, Yin Y, Pachter L, Garner OB, Flint J, Eskin E, Luo C, Kosuri S, Kruglyak L, Arboleda VA. PMID: 34211145.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    4. Retrospective Detection of SARS-CoV-2 in Symptomatic Patients prior to Widespread Diagnostic Testing in Southern California. Clin Infect Dis. 2021 May 03. Hilt EE, Boocock J, Trejo M, Le CQ, Guo L, Zhang Y, Sathe L, Arboleda VA, Yin Y, Bloom JS, Wang PC, Elmore JG, Kruglyak L, Shrestha L, Bakhash SAM, Lin M, Xie H, Huang ML, Roychoudhury P, Greninger A, Chandrasekaran S, Yang S, Garner OB. PMID: 33939799.
      View in: PubMed   Mentions: 1     Fields:    
    5. Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing. medRxiv. 2021 Mar 09. Bloom JS, Sathe L, Munugala C, Jones EM, Gasperini M, Lubock NB, Yarza F, Thompson EM, Kovary KM, Park J, Marquette D, Kay S, Lucas M, Love T, Booeshaghi AS, Brandenberg OF, Guo L, Boocock J, Hochman M, Simpkins SW, Lin I, LaPierre N, Hong D, Zhang Y, Oland G, Choe BJ, Chandrasekaran S, Hilt EE, Butte MJ, Damoiseaux R, Kravit C, 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:
    6. From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration. Mol Syst Biol. 2021 02; 17(2):e9840. Palafox MF, Desai HS, Arboleda VA, Backus KM. PMID: 33599394.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    7. Metabolic reprogramming and epigenetic changes of vital organs in SARS-CoV-2-induced systemic toxicity. JCI Insight. 2021 01 25; 6(2). Li S, Ma F, Yokota T, Garcia G, Palermo A, Wang Y, Farrell C, Wang YC, Wu R, Zhou Z, Pan C, Morselli M, Teitell MA, Ryazantsev S, Fishbein GA, Hoeve JT, Arboleda VA, Bloom J, Dillon B, Pellegrini M, Lusis AJ, Graeber TG, Arumugaswami V, Deb A. PMID: 33284134.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    8. 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, DDD Study , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 32814847.
      View in: PubMed   Mentions:    Fields:    
    9. An Overview of DNA Analytical Methods. Methods Mol Biol. 2019; 1897:385-402. Arboleda VA, Xian RR. PMID: 30539459.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    10. 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: 24     Fields:    Translation:HumansCells
    11. 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, DDD Study, , Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. PMID: 30245513.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    12. 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:
    13. 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: 4     Fields:    Translation:Animals
    14. 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
    15. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-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: 41     Fields:    Translation:AnimalsCells
    16. 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: 16     Fields:    Translation:AnimalsCells
    17. 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: 17     Fields:    Translation:HumansCells
    18. 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
    19. 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: 20     Fields:    Translation:HumansAnimalsCells
    20. 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:
    21. 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, UCLA Clinical Genomics Center , Grody WW, Vilain E, Nelson SF. PMID: 25728775.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansCells
    22. 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: 44     Fields:    Translation:Humans
    23. 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: 26     Fields:    Translation:HumansAnimals
    24. 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
    25. 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: 80     Fields:    Translation:HumansAnimals
    26. 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: 62     Fields:    Translation:HumansAnimalsCells
    27. 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: 30     Fields:    Translation:Humans
    28. 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
    29. 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: 39     Fields:    Translation:HumansAnimalsCells
    30. 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: 71     Fields:    Translation:HumansAnimalsCells
    31. 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: 13     Fields:    Translation:HumansAnimalsCells
    32. 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: 78     Fields:    Translation:AnimalsCells