ValerieAnneArboledaMDPhD

PubMed

• KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
  Meghna Singh, Sarah J Spendlove, Angela Wei, Leroy M Bondhus, Aileen A Nava, Francisca N de L Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjam...> ;Human Genetics. 2023 Dec 1
• mutations in Arboleda-Tham syndrome drive epigenetic regulation of posteriorcluster.
  Meghna Singh, Sarah Spendlove, Angela Wei, Leroy Bondhus, Aileen Nava, Francisca N de L Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A G...> ;Biorxiv. 2023 Aug 5
• 2 citations
  Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.
  Christa Caggiano, Arya Boudaie, Ruhollah Shemirani, Joel Mefford, Ella Petter, Alec Chiu, Defne Ercelen, Rosemary He, Daniel Tward, Kimberly C Paul, Timothy S Chang, B...> ;Nature Medicine. 2023 Jul 1
• 1 citations
  Whole-Exome Sequencing Identifies Homozygote Nonsense Variants inGene Causing Infantile Dilated Cardiomyopathy.
  Sono, R., Larrinaga, T., Huang, A., Makhlouf, F., Kang, X., Su, J., Lau, R., Arboleda, V., Biniwale, R., Fishbein, G., Khanlou, N., Si, M., Satou, G., Halnon, N., Ucla...> ;Cells. 2023 May 23
• 4 citations
  The omics era: a nexus of untapped potential for Mendelian chromatinopathies.
  Aileen A Nava, Valerie A Arboleda> ;Human Genetics. 2023 Apr 28
• 3D Printing as an Effective Quality Assurance Implementation in Massive-Scale SARS-CoV-2 Testing at a SwabSeq Next-Generation Sequencing Laboratory.
  Laila M Sathe, Nishrat N Khan, Jazmine M Williams, Rosita Saul, Kane Jajieh, Maryam R Sartippour, Rachel Young, Joanna Xie, Dawn M Marquette, Tiffany Duncan, Eleazar E...> ;Laboratory Medicine. 2023 Sep 5
• Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.
  Ruth Johnson, Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu, Sergey Knyazev, Tommer Schwarz, Malika Freund, Lingyu Zhan, Kathryn S Burc...> ;Genome Medicine. 2022 Nov 16
• 16 citations
  Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.
  Ruth Johnson, Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu, Sergey Knyazev, Tommer Schwarz, Malika Freund, Lingyu Zhan, Kathryn S Burc...> ;Genome Medicine. 2022 Sep 9
• 5 citations
  DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features.
  Leroy Bondhus, Angela Wei, Valerie A Arboleda> ;BMC Bioinformatics. 2022 Sep 5
• 2 citations
  Lower Severe Acute Respiratory Syndrome Coronavirus 2 Viral Shedding Following Coronavirus Disease 2019 Vaccination Among Healthcare Workers in Los Angeles, California
  Paul C Adamson, Michael A. Pfeffer, Valerie A. Arboleda, Omai B. Garner, Annabelle de St Maurice, Benjamin von Bredow, Jonathan Flint, Leonid Kruglyak, Judith S. Currier> ;Open Forum Infectious Diseases. 2021 Nov 1
• 3 citations
  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin S...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 14
• 2 citations
  Lean Principles to Improve Quality in High-Throughput COVID-19 Testing Using SwabSeq: A Barcoded Sequencing-Based Testing Platform.
  Janae Jones, Rosita Saul, Laila Sathe, Joanna Xie, Dawn Marquette, Valerie A. Arboleda> ;Laboratory Medicine. 2021 Aug 26
• Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
  Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tio...> ;Genetics in Medicine. 2020 Nov 1
• 24 citations
  Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing
  Joshua S. Bloom, Laila Sathe, Chetan Munugala, Eric T. Jones, Molly Gasperini, Nathan B. Lubock, Fauna Yarza, Erin M. Thompson, Kyle M. Kovary, Jimin Park, Dawn Marque...> ;Medrxiv. 2020 Aug 6
• 6 citations
  An Overview of DNA Analytical Methods.
  Valerie A. Arboleda, Rena R Xian> ;Methods in Molecular Biology. 2019 Jan 1
• 25 citations
  Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis
  Ilina Datkhaeva, Valerie A. Arboleda, T. Niroshi Senaratne, Gelareh Nikpour, Yipeng Geng, Yalda Afshar, Emily Scibetta, Jeffrey D. Goldstein, Fabiola Quintero-Rivera, ...> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 56 citations
  Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.
  Malika K. Freund, Kathryn S. Burch, Huwenbo Shi, Nicholas Mancuso, Gleb Kichaev, Kristina M. Garske, David Z. Pan, Zong Miao, Karen L. Mohlke, Markku Laakso, Päivi Paj...> ;American Journal of Human Genetics. 2018 Oct 4
• 18 citations
  Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model
  Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E. Segura, Ascia Eskin, Matthew S. Bramble, Valerie A. Arboleda, Ruth M. Baxter, Stanley F. Nelso...> ;Biology of Sex Differences. 2018 Jan 30
• 8 citations
  Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting.
  Valerie A. Arboleda, Omai B. Garner> ;American Journal of Clinical Pathology. 2017 Oct 1
• 76 citations
  Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
  Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Nele A Haelterman, Nagireddy Putluri, Vasanta Putluri, Arun Sreekumar, Tulay To...> ;Neuron. 2017 Jan 4
• 29 citations
  Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells.
  Matthew S. Bramble, Lara Roach, Allen Lipson, Neerja Vashist, Ascia Eskin, Tuck Ngun, Jason E. Gosschalk, Steven D Klein, Hayk Barseghyan, Valerie A. Arboleda, Eric Vi...> ;Scientific Reports. 2016 Nov 15
• 59 citations
  A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
  Matthew S. Bramble, E. Goldstein, Allen Lipson, Tuck Ngun, Ascia Eskin, Jason E. Gosschalk, Lara Roach, Neerja Vashist, Hayk Barseghyan, Eric Lee, Valerie A. Arboleda,...> ;Human Reproduction. 2016 Apr 1
• Lymphoma and gout coexisting in the same joint fluid.
  Valerie A. Arboleda, Stephen Lee> ;Blood. 2015 May 14
• 34 citations
  MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1.
  Jorge R. Contreras, Jayanth Kumar Palanichamy, Tiffany M. Tran, Thilini Fernando, Norma I. Rodriguez-Malave, Neha Goswami, Valerie A. Arboleda, David Casero, Dinesh S....> ;Oncotarget. 2015 May 10
• 14 citations
  Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase
  Kleiton Silva Borges, Valerie A. Arboleda, Eric Vilain> ;Cell Division. 2015 Mar 28
• Join now to see all

Journal Articles

• KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants  
  Valerie A Arboleda, Marni J Falk, Stanley F Nelson, Hakon Hakonarson, Susan Schelley, Nature
• Identification of Novel PIEZO1 Variants Using Prenatal Exome Sequencing and Correlation to Ultrasound and Autopsy Findings of Recurrent Hydrops Fetalis  
  Yipeng Geng, Emily Scibetta, Valerie A Arboleda, Gelareh Nikpour, Barbara F Crandall, Carla Janzen, Ilina Datkhaeva, Joshua Deignan, American Journal of Medical Genetics Part A