Valerie A Arboleda

Title(s)Associate Professor, Pathology and Laboratory Medicine
SchoolMedicine
ORCID ORCID Icon0000-0002-9687-9122 Additional info
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    Other Positions
    Title(s)Associate Professor, Human Genetics


    Collapse Biography 
    Collapse Education and Training
    Columbia College, Columbia University, New York, NYBA05/2005Biology, Asian American Studies
    UCLA, Los Angeles, CAMD PhD06/2014Medicine, Human Genetics
    UCLA, Los Angeles, CAFACP06/2017Clinical Pathology

    Collapse Overview 

    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 ORNG Applications 
    Collapse Featured Publications

    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers. medRxiv. 2024 Feb 06. Lin I, Wei A, Gebo TA, Boutros PC, Flanagan M, Kucine N, Cunniff C, Arboleda VA, Chang VY. PMID: 38370823; PMCID: PMC10871368.
      View in: PubMed   Mentions:
    2. KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster. Hum Genet. 2023 Dec; 142(12):1705-1720. Singh M, Spendlove SJ, Wei A, Bondhus LM, Nava AA, de L Vitorino FN, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA. PMID: 37861717; PMCID: PMC10676314.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. The genetic underpinnings of variable penetrance and expressivity of pathogenic mutations in cardiometabolic traits. medRxiv. 2023 Sep 18. Wei A, Border R, Fu B, Cullina S, Brandes N, Sankararaman S, Kenny EE, Udler MS, Ntranos V, Zaitlen N, Arboleda VA. PMID: 37745486; PMCID: PMC10516069.
      View in: PubMed   Mentions:
    4. 3D Printing as an Effective Quality Assurance Implementation in Massive-Scale SARS-CoV-2 Testing at a SwabSeq Next-Generation Sequencing Laboratory. Lab Med. 2023 Sep 05; 54(5):512-518. Sathe LM, Khan NN, Williams JM, Saul R, Jajieh K, Sartippour MR, Young R, Xie J, Marquette DM, Duncan T, Eskin E, Arboleda VA. PMID: 36810591.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster. bioRxiv. 2023 Aug 05. Singh M, Spendlove S, Wei A, Bondhus L, Nava A, de L Vitorino FN, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA. PMID: 37577627; PMCID: PMC10418288.
      View in: PubMed   Mentions:
    6. Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region. Nat Med. 2023 07; 29(7):1845-1856. Caggiano C, Boudaie A, Shemirani R, Mefford J, Petter E, Chiu A, Ercelen D, He R, Tward D, Paul KC, Chang TS, Pasaniuc B, Kenny EE, Shortt JA, Gignoux CR, Balliu B, Arboleda VA, Belbin G, Zaitlen N. PMID: 37464048.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy. Cells. 2023 05 23; 12(11). Sono R, Larrinaga TM, Huang A, Makhlouf F, Kang X, Su J, Lau R, Arboleda VA, Biniwale R, Fishbein GA, Khanlou N, Si MS, Satou GM, Halnon N, Van Arsdell GS, Gregorio CC, Nelson S, Touma M. PMID: 37296576; PMCID: PMC10252268.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    8. Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation. JCI Insight. 2023 05 22; 8(10). Lin I, Wei A, Awamleh Z, Singh M, Ning A, Herrera A, REACH Biobank and Registry, Russell BE, Weksberg R, Arboleda VA. PMID: 37053013; PMCID: PMC10322691.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    9. The omics era: a nexus of untapped potential for Mendelian chromatinopathies. Hum Genet. 2023 Apr 28. Nava AA, Arboleda VA. PMID: 37115317.
      View in: PubMed   Mentions: 1     Fields:    
    10. Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative. Genome Med. 2022 Nov 16; 14(1):128. Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ, UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working G, Lajonchere C, Geschwind DH, Pasaniuc B. PMID: 36384576; PMCID: PMC9670414.
      View in: PubMed   Mentions:    Fields:    
    11. Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity. Brief Bioinform. 2022 09 20; 23(5). Bondhus L, Varma R, Hernandez Y, Arboleda VA. PMID: 35534150; PMCID: PMC9487600.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    12. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative. Genome Med. 2022 Sep 09; 14(1):104. Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ, UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working G, Lajonchere C, Geschwind DH, Pasaniuc B. PMID: 36085083; PMCID: PMC9461263.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansPHPublic Health
    13. DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features. BMC Bioinformatics. 2022 Sep 05; 23(1):364. Bondhus L, Wei A, Arboleda VA. PMID: 36064314; PMCID: PMC9447346.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    14. Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease. HGG Adv. 2022 Jul 14; 3(3):100112. Spendlove SJ, Bondhus L, Lluri G, Sul JH, Arboleda VA. PMID: 35599848; PMCID: PMC9118152.
      View in: PubMed   Mentions: 1  
    15. Genomic epidemiology of the Los Angeles COVID-19 outbreak and the early history of the B.1.43 strain in the USA. BMC Genomics. 2022 Apr 04; 23(1):260. Guo L, Boocock J, Hilt EE, Chandrasekaran S, Zhang Y, Munugala C, Sathe L, Alexander N, Arboleda VA, Flint J, Eskin E, Luo C, Yang S, Garner OB, Yin Y, Bloom JS, Kruglyak L. PMID: 35379194; PMCID: PMC8978495.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCellsPHPublic Health
    16. DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. Eur J Hum Genet. 2022 06; 30(6):695-702. Awamleh Z, Chater-Diehl E, Choufani S, Wei E, Kianmahd RR, Yu A, Chad L, Costain G, Tan WH, Scherer SW, Arboleda VA, Russell BE, Weksberg R. PMID: 35361921; PMCID: PMC9177544.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    17. Retrospective Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Symptomatic Patients Prior to Widespread Diagnostic Testing in Southern California. Clin Infect Dis. 2022 01 29; 74(2):271-277. 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; PMCID: PMC8135745.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    18. Lean Principles to Improve Quality in High-Throughput COVID-19 Testing Using SwabSeq: A Barcoded Sequencing-Based Testing Platform. Lab Med. 2022 Jan 06; 53(1):e8-e13. Jones J, Saul R, Sathe L, Xie J, Marquette D, Arboleda VA. PMID: 34436601; PMCID: PMC8499806.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    19. Lower Severe Acute Respiratory Syndrome Coronavirus 2 Viral Shedding Following Coronavirus Disease 2019 Vaccination Among Healthcare Workers in Los Angeles, California. Open Forum Infect Dis. 2021 Nov; 8(11):ofab526. Adamson PC, Pfeffer MA, Arboleda VA, Garner OB, de St Maurice A, von Bredow B, Flint J, Kruglyak L, Currier JS. PMID: 35005055; PMCID: PMC8689969.
      View in: PubMed   Mentions: 2  
    20. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. 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; PMCID: PMC8580094.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. 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; PMCID: PMC10810734.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    22. 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; PMCID: PMC7480060.
      View in: PubMed   Mentions: 2  
    23. 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; PMCID: PMC7890448.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    24. 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; PMCID: PMC7934846.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    25. 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:    
    26. 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
    27. 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; PMCID: PMC6174356.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    28. 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; PMCID: PMC6634310.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    29. 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. 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: 15     Fields:    Translation:Humans
    30. 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; PMCID: PMC5789682.
      View in: PubMed   Mentions: 9     Fields:    Translation:Animals
    31. 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: 4     Fields:    Translation:Humans
    32. 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; PMCID: PMC5242142.
      View in: PubMed   Mentions: 61     Fields:    Translation:AnimalsCells
    33. 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; PMCID: PMC5109279.
      View in: PubMed   Mentions: 19     Fields:    Translation:AnimalsCells
    34. 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; PMCID: PMC5007606.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    35. 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
    36. 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; PMCID: PMC4484436.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    37. 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; PMCID: PMC4389716.
      View in: PubMed   Mentions: 13  
    38. 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; PMCID: PMC4375619.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    39. 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; PMCID: PMC4318895.
      View in: PubMed   Mentions: 79     Fields:    Translation:Humans
    40. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. Arboleda VA, Sandberg DE, Vilain E. PMID: 25091731; PMCID: PMC4441533.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansAnimals
    41. 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; PMCID: PMC4096368.
      View in: PubMed   Mentions: 8     Fields:    Translation:AnimalsCells
    42. 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; PMCID: PMC4068824.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansAnimals
    43. 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; PMCID: PMC3386373.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    44. 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; PMCID: PMC4052834.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    45. 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; PMCID: PMC3171521.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    46. 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; PMCID: PMC3049794.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    47. 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; PMCID: PMC3007141.
      View in: PubMed   Mentions: 93     Fields:    Translation:HumansAnimalsCells
    48. 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
    49. 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; PMCID: PMC6730191.
      View in: PubMed   Mentions: 89     Fields:    Translation:AnimalsCells
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