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Valerie A. Arboleda, Ph.D. - Publications

Affiliations: 
2012 Human Genetics 0994 University of California, Los Angeles, Los Angeles, CA 
Area:
Genetics, Human Development
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22 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Singh M, Spendlove S, Wei A, Bondhus L, Nava A, N de L Vitorino F, Amano S, Lee J, Echeverria G, Gomez D, Garcia BA, Arboleda VA. mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior cluster. Biorxiv : the Preprint Server For Biology. PMID 37577627 DOI: 10.1101/2023.08.03.550595  0.301
2023 Nava AA, Arboleda VA. The omics era: a nexus of untapped potential for Mendelian chromatinopathies. Human Genetics. PMID 37115317 DOI: 10.1007/s00439-023-02560-2  0.319
2019 Arboleda VA, Xian RR. An Overview of DNA Analytical Methods. Methods in Molecular Biology (Clifton, N.J.). 1897: 385-402. PMID 30539459 DOI: 10.1007/978-1-4939-8935-5_31  0.331
2018 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. American Journal of Human Genetics. 103: 535-552. PMID 30290150 DOI: 10.1016/J.Ajhg.2018.08.017  0.397
2018 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, ... ... Arboleda VA, et al. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245513 DOI: 10.1038/S41436-018-0259-2  0.344
2018 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. American Journal of Medical Genetics. Part A. PMID 30244526 DOI: 10.1002/Ajmg.A.40533  0.403
2018 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. Biology of Sex Differences. 9: 8. PMID 29378665 DOI: 10.1186/S13293-018-0167-9  0.617
2016 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. Scientific Reports. 6: 36916. PMID 27845378 DOI: 10.1038/Srep36916  0.675
2016 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 (Oxford, England). PMID 26911863 DOI: 10.1093/Humrep/Dew025  0.652
2015 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. 10: 2. PMID 25861374 DOI: 10.1186/S13008-015-0008-8  0.542
2015 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, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. American Journal of Human Genetics. 96: 498-506. PMID 25728775 DOI: 10.1016/J.Ajhg.2015.01.017  0.574
2015 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, et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. The Journal of Clinical Endocrinology and Metabolism. 100: E333-44. PMID 25383892 DOI: 10.1210/Jc.2014-2605  0.62
2014 Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nature Reviews. Endocrinology. 10: 603-15. PMID 25091731 DOI: 10.1038/Nrendo.2014.130  0.612
2014 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. 197: 885-97. PMID 24793290 DOI: 10.1534/Genetics.113.160259  0.565
2014 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. The New England Journal of Medicine. 370: 943-9. PMID 24597867 DOI: 10.1056/Nejmoa1309635  0.689
2013 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. Clinical Genetics. 83: 35-43. PMID 22435390 DOI: 10.1111/J.1399-0004.2012.01879.X  0.621
2013 Arboleda VA, Vilain E. Disorders of Sex Development Yen and Jaffe's Reproductive Endocrinology: Seventh Edition. 351-376. DOI: 10.1016/B978-1-4557-2758-2.00017-2  0.498
2012 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. Nature Genetics. 44: 788-92. PMID 22634751 DOI: 10.1038/Ng.2275  0.58
2011 Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Molecular Genetics and Metabolism. 104: 67-71. PMID 21795084 DOI: 10.1016/J.Ymgme.2011.06.024  0.629
2011 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, et al. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. Plos One. 6: e17793. PMID 21408189 DOI: 10.1371/Journal.Pone.0017793  0.64
2011 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, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. The Journal of Clinical Investigation. 121: 328-41. PMID 21183788 DOI: 10.1172/Jci42580  0.603
2008 Arboleda VA, Twiss CO, Vilain E, Rodriguez LV. In Vitro Effects Of A Single Nucleotide Polymorphism On Expression Of Extracellular Matrix Protein Laminin Gamma-1 (Lamc1) The Journal of Urology. 179: 445-445. DOI: 10.1016/S0022-5347(08)61305-1  0.468
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