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genomics, EHR, rare disease
United States

Activities

Employment (3)

UCLA: Los Angeles, California, US

2023-07-01 to present | Associate Professor (Pathology & Laboratory Medicine, Human Genetics and Computational Medicine)
Employment
Source: Self-asserted source
Valerie Arboleda

David Geffen School of Medicine: Los Angeles, CA, US

2018-01-02 to 2033-06-30 | Assistant Professor (Pathology and Laboratory Medicine, Human Genetics)
Employment
Source: Self-asserted source
Valerie Arboleda

University of California Los Angeles David Geffen School of Medicine: Los Angeles, CA, US

2014-07 to 2017-10-30 | PGY-1 (Department of Pathology and Laboratory Medicine)
Employment
Source: Self-asserted source
Valerie Arboleda

Education and qualifications (2)

University of California Los Angeles David Geffen School of Medicine: Los Angeles, CA, US

2005 to 2014 | MD
Education
Source: Self-asserted source
Valerie Arboleda

University of California Los Angeles David Geffen School of Medicine: Los Angeles, CA, US

2007-12 to 2012-06 | PhD (Department of Human Genetics)
Education
Source: Self-asserted source
Valerie Arboleda

Professional activities (3)

American Society for Clinical Investigation: Chicago, Illinois, US

2022-04-01 to present | Member
Membership
Source: Self-asserted source
Valerie Arboleda

Molecular Biology Institute, UCLA: Los Angeles, CA, US

2018-12 to present | Associate Member
Membership
Source: Self-asserted source
Valerie Arboleda

American Society of Human Genetics: Washington DC, DC, US

2008-07 to present | Member
Service
Source: Self-asserted source
Valerie Arboleda

Funding (5)

Host Immunogenetics and Fungal Virulence Mechanisms in Coccidioidomycosis

2022-01-24 to 2026-12-31 | Grant
National Institute of Allergy and Infectious Diseases (Bethesda, US)
GRANT_NUMBER: U19AI166059
Source: Self-asserted source
Valerie Arboleda via DimensionsWizard

Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems

2020-09-16 to 2024-07-31 | Grant
National Human Genome Research Institute (Bethesda, US)
GRANT_NUMBER: R01HG011345
Source: Self-asserted source
Valerie Arboleda via DimensionsWizard

Dissecting the spectrum of genetic architectures underlying congenital heart defects.

2020-01-01 to 2021-12-31 | Grant
National Heart Lung and Blood Institute (Bethesda, US)
GRANT_NUMBER: R03HL150604
Source: Self-asserted source
Valerie Arboleda via DimensionsWizard

UNRAVELING CORRELATIONS BETWEEN MENDELIAN AND COMMON DISEASE USING FUNCTIONAL GENOMICS

2017-09 to 2022-08 | Grant
NIH Office of the Director (Md., Md., US)
GRANT_NUMBER:

DP5OD024579

Source: Self-asserted source
Valerie Arboleda
grade
Preferred source (of 2)‎

Identifying Novel Sex Determination Genes that protect from B6-YPOS Sex Reversal

2011-04-01 to 2012-06-30 | Grant
National Institute of Child Health and Human Development (Bethesda, US)
GRANT_NUMBER: F31HD068136
Source: Self-asserted source
Valerie Arboleda via DimensionsWizard

Works (50 of 59)

Items per page:
Page 1 of 2

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

Human Genetics
2024-04 | Journal article
Contributors: Aileen A. Nava; Valerie A. Arboleda
Source: check_circle
Crossref

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers

2024-02-06 | Preprint
Contributors: Isabella Lin; Angela Wei; Tsumugi A Gebo; PC Boutros; Maeve Flanagan; Nicole Kucine; C Cunniff; VA Arboleda; VY Chang
Source: check_circle
Crossref

KAT6Amutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model

2023-06-18 | Preprint
Contributors: Aileen A. Nava; Connor T. Jops; Celine K. Vuong; Samantha L. Niles-Jensen; Leroy Bondhus; Cameron J. Ong; Luis de la Torre-Ubieta; Michael J. Gandal; Valerie A. Arboleda
Source: check_circle
Crossref

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

JCI Insight
2023-05-22 | Journal article
Contributors: Isabella Lin; Angela Wei; Zain Awamleh; Meghna Singh; Aileen Ning; Analeyla Herrera; Bianca E. Russell; Rosanna Weksberg; Valerie A. Arboleda
Source: check_circle
Crossref

3D Printing as an Effective Quality Assurance Implementation in Massive Scale SARS-CoV-2 Testing at SwabSeq Next Generation Sequencing Laboratory

2023-01-12 | Other
Contributors: Laila Sathe; Joanna Xie; Dawn Marquette; Rosita Saul; Valerie Arboleda; Nishrat Khan; Jazmine Williams; Kane Jajieh; Maryam Sartippour; Rachel Young et al.
Source: check_circle
Crossref

ASXL1mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

2022-12-16 | Preprint
Contributors: Isabella Lin; Zain Awamleh; Angela Wei; Bianca Russell; Rosanna Weksberg; Valerie A. Arboleda
Source: check_circle
Crossref

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.

Genome medicine
2022-09 | Journal article
Contributors: Johnson R; Ding Y; Venkateswaran V; Bhattacharya A; Boulier K; Chiu A; Knyazev S; Schwarz T; Freund M; Zhan L et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity

Briefings in Bioinformatics
2022-09-20 | Journal article
Contributors: Leroy Bondhus; Roshni Varma; Yenifer Hernandez; Valerie A Arboleda
Source: check_circle
Crossref

DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features

BMC Bioinformatics
2022-09-05 | Journal article
Contributors: Leroy Bondhus; Angela Wei; Valerie A. Arboleda
Source: check_circle
Crossref

Electronic health record signatures identify undiagnosed patients with Common Variable Immunodeficiency Disease

2022-08-03 | Preprint
Contributors: Ruth Johnson; Alexis V. Stephens; Sergey Knyazev; Lisa A. Kohn; Malika K. Freund; Leroy Bondhus; Brian L. Hill; Tommer Schwarz; Noah Zaitlen; Valerie A. Arboleda et al.
Source: check_circle
Crossref

Health care utilization of fine-scale identity by descent clusters in a Los Angeles biobank

2022-07 | Preprint
Contributors: Caggiano C; Boudaie A; Shemirani R; Petter E; Chiu A; Johnson R; Ercelen D; Pasaniuc B; Kenny E; Shortt J et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

European journal of human genetics : EJHG
2022-04 | Journal article
Contributors: Awamleh Z; Chater-Diehl E; Choufani S; Wei E; Kianmahd RR; Yu A; Chad L; Costain G; Tan WH; Scherer SW et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Genomic epidemiology of the Los Angeles COVID-19 outbreak and the early history of the B.1.43 strain in the USA.

BMC genomics
2022-04 | Journal article
Contributors: Guo L; Boocock J; Hilt EE; Chandrasekaran S; Zhang Y; Munugala C; Sathe L; Alexander N; Arboleda VA; Flint J et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Polygenic Risk Scores of Endo-phenotypes Identify the Effect of Genetic Background in Congenital Heart Disease

Human Genetics and Genomics Advances
2022-04 | Journal article
Contributors: Sarah Spendlove; Leroy Bondhus; Gentian Lluri; Jae Hoon Sul; Valerie A. Arboleda
Source: check_circle
Crossref

Retrospective Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Symptomatic Patients Prior to Widespread Diagnostic Testing in Southern California.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America
2022-01 | Journal article
Contributors: Hilt EE; Boocock J; Trejo M; Le CQ; Guo L; Zhang Y; Sathe L; Arboleda VA; Yin Y; Bloom JS et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Lean Principles to Improve Quality in High-Throughput COVID-19 Testing Using SwabSeq: A Barcoded Sequencing-Based Testing Platform

Laboratory Medicine
2022-01-06 | Journal article
Contributors: Janae Jones; Rosita Saul; Laila Sathe; Joanna Xie; Dawn Marquette; Valerie A Arboleda
Source: check_circle
Crossref

Lower SARS-CoV-2 viral shedding following COVID-19 vaccination among healthcare workers in Los Angeles, California

Open Forum Infectious Diseases
2021-11-18 | Journal article
Contributors: 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
Source: check_circle
Crossref

Leveraging genomic diversity for discovery in an EHR-linked biobank: the UCLA ATLAS Community Health Initiative

2021-09 | Preprint
Contributors: Johnson R; Ding Y; Venkateswaran V; Bhattacharya A; Chiu A; Schwarz T; Freund M; Zhan L; Burch KS; Caggiano C et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Molecular genetics & genomic medicine
2021-09 | Journal article
Contributors: Yabumoto M; Kianmahd J; Singh M; Palafox MF; Wei A; Elliott K; Goodloe DH; Dean SJ; Gooch C; Murray BK et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples.

Nature biomedical engineering
2021-07 | Journal article
Contributors: Bloom JS; Sathe L; Munugala C; Jones EM; Gasperini M; Lubock NB; Yarza F; Thompson EM; Kovary KM; Park J et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Genomic Epidemiology of the Los Angeles COVID-19 Outbreak

2021-05 | Preprint
Contributors: Guo​ L; Boocock​ J; Hilt​ EE; Chandrasekaran​ S; Zhang​ Y; Munugala​ C; Sathe​ L; Alexander​ N; Arboleda​ VA; Flint​ J et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

From chemoproteomic‐detected amino acids to genomic coordinates: insights into precise multi‐omic data integration

Molecular Systems Biology
2021-02 | Journal article
Contributors: Maria F Palafox; Heta S Desai; Valerie A Arboleda; Keriann M Backus
Source: check_circle
Crossref

DMRscaler: A Scale-Aware Method to Identify Regions of Differential DNA Methylation Spanning Basepair to Multi-Megabase Features

2021-02-04 | Preprint
Contributors: Leroy Bondhus; Angela Wei; Valerie A. Arboleda
Source: check_circle
Crossref

Metabolic reprogramming and epigenetic changes of vital organs in SARS-CoV-2-induced systemic toxicity.

JCI insight
2021-01 | Journal article
Contributors: Li S; Ma F; Yokota T; Garcia G; Palermo A; Wang Y; Farrell C; Wang YC; Wu R; Zhou Z et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Genomic epidemiology of the Los Angeles COVID-19 outbreak

2020-09-18 | Other
Contributors: Longhua Guo; James Boocock; Evann E. Hilt; Sukantha Chandrasekaran; Yi Zhang; Chetan Munugala; Laila Sathe; Noah Alexander; Valerie A. Arboleda; Jonathan Flint et al.
Source: check_circle
Crossref

Rapid cost-effective viral genome sequencing by V-seq

[]
2020-08-15 | Preprint
Source: Self-asserted source
Valerie Arboleda

Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing

[]
2020-08-06 | Preprint
Source: Self-asserted source
Valerie Arboleda

From Chemoproteomic-Detected Amino Acids to Genomic Coordinates: Insights into Precise Multi-omic Data Integration

[]
2020-07-04 | Preprint
Source: Self-asserted source
Valerie Arboleda

An Overview of DNA Analytical Methods.

Methods in molecular biology (Clifton, N.J.)
2019-01 | Journal article
Contributors: Arboleda VA; Xian RR
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y<sup>POS</sup>mouse model

Biology of Sex Differences
2018 | Journal article
EID:

2-s2.0-85041207668

Contributors: Barseghyan, H.; Symon, A.; Zadikyan, M.; Almalvez, M.; Segura, E.E.; Eskin, A.; Bramble, M.S.; Arboleda, V.A.; Baxter, R.; Nelson, S.F. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

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
2018 | Journal article
EID:

2-s2.0-85053695990

Contributors: Datkhaeva, I.; Arboleda, V.A.; Senaratne, T.N.; Nikpour, G.; Meyerson, C.; Geng, Y.; Afshar, Y.; Scibetta, E.; Goldstein, J.; Quintero-Rivera, F. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in Medicine
2018 | Journal article
EID:

2-s2.0-85053824960

Contributors: Kennedy, J.; Goudie, D.; Blair, E.; Chandler, K.; Joss, S.; McKay, V.; Green, A.; Armstrong, R.; Lees, M.; Kamien, B. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

American Journal of Human Genetics
2018 | Journal article
EID:

2-s2.0-85054184280

Contributors: Freund, M.K.; Burch, K.S.; Shi, H.; Mancuso, N.; Kichaev, G.; Garske, K.M.; Pan, D.Z.; Miao, Z.; Mohlke, K.L.; Laakso, M. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits

2018-05-17 | Other
Contributors: Malika Kumar Freund; Kathryn Burch; Huwenbo Shi; Nicholas Mancuso; Gleb Kichaev; Kristina M. Garske; David Z. Pan; Päivi Pajukanta; Gleb Pasaniuc; Valerie A. Arboleda
Source: check_circle
Crossref

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Neuron
2017 | Journal article
EID:

2-s2.0-85009067781

Contributors: Yoon, W.H.; Sandoval, H.; Nagarkar-Jaiswal, S.; Jaiswal, M.; Yamamoto, S.; Haelterman, N.A.; Putluri, N.; Putluri, V.; Sreekumar, A.; Tos, T. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Point-of-Care Testing for Group A Streptococcus Infection and Influenza

Clinical Microbiology Newsletter
2017 | Journal article
EID:

2-s2.0-85031896718

Contributors: Woo, J.; Arboleda, V.; Garner, O.B.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting

American Journal of Clinical Pathology
2017-10 | Journal article
Contributors: Valerie A Arboleda; Omai B Garner
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

Human Reproduction
2016 | Journal article
EID:

2-s2.0-84963954442

Contributors: Bramble, M.S.; Goldstein, E.H.; Lipson, A.; Ngun, T.; Eskin, A.; Gosschalk, J.E.; Roach, L.; Vashist, N.; Barseghyan, H.; Lee, E. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

Scientific Reports
2016 | Journal article
EID:

2-s2.0-84995402605

Contributors: Bramble, M.S.; Roach, L.; Lipson, A.; Vashist, N.; Eskin, A.; Ngun, T.; Gosschalk, J.E.; Klein, S.; Barseghyan, H.; Arboleda, V.A. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

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
2015 | Journal article
EID:

2-s2.0-84924254832

Contributors: Arboleda, V.A.; Lee, H.; Dorrani, N.; Zadeh, N.; Willis, M.; Macmurdo, C.F.; Manning, M.A.; Kwan, A.; Hudgins, L.; Barthelemy, F. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Exome sequencing for the diagnosis of 46, XY disorders of sex development

Journal of Clinical Endocrinology and Metabolism
2015 | Journal article
EID:

2-s2.0-84928350986

Contributors: Baxter, R.M.; Arboleda, V.A.; Lee, H.; Barseghyan, H.; Adam, M.P.; Fechner, P.Y.; Bargman, R.; Keegan, C.; Travers, S.; Schelley, S. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Lymphoma and gout coexisting in the same joint fluid

Blood
2015 | Journal article
EID:

2-s2.0-84929379724

Contributors: Arboleda, V.A.; Lee, S.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1

Oncotarget
2015 | Journal article
EID:

2-s2.0-84929648710

Contributors: Contreras, J.R.; Palanichamy, J.K.; Tran, T.M.; Fernando, T.R.; Rodriguez-Malave, N.I.; Goswami, N.; Arboleda, V.A.; Casero, D.; Rao, D.S.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

Cell Division
2015 | Journal article
EID:

2-s2.0-84926380121

Contributors: Borges, K.S.; Arboleda, V.A.; Vilain, E.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

DSDs: Genetics, underlying pathologies and psychosexual differentiation

Nature Reviews Endocrinology
2014 | Journal article
EID:

2-s2.0-84926228907

Contributors: Arboleda, V.A.; Sandberg, D.E.; Vilain, E.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Mutant cohesin in premature ovarian failure

2014 | Journal article
DOI:

10.1056/NEJMbr1309635

EID:

2-s2.0-84895433616

Contributors: Caburet, S.; Arboleda, V.A.; Llano, E.; Overbeek, P.A.; Barbero, J.L.; Oka, K.; Harrison, W.; Vaiman, D.; Ben-Neriah, Z.; Garciá-Tuñ́on, I. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Regulation of sex determination in mice by a non-coding genomic region

2014 | Journal article
DOI:

10.1534/genetics.113.160259

EID:

2-s2.0-84904262983

Contributors: Arboleda, V.A.; Fleming, A.; Barseghyan, H.; Délot, E.; Sinsheimer, J.S.; Vilain, E.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Mutant cohesin in premature ovarian failure.

The New England journal of medicine
2014-03 | Journal article
Contributors: Caburet S; Arboleda VA; Llano E; Overbeek PA; Barbero JL; Oka K; Harrison W; Vaiman D; Ben-Neriah Z; García-Tuñón I et al.
Source: Self-asserted source
Valerie Arboleda via Europe PubMed Central

Disorders of Sex Development

2013 | Book
DOI:

10.1016/B978-1-4557-2758-2.00017-2

EID:

2-s2.0-84903247119

Contributors: Arboleda, V.A.; Vilain, E.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

2012 | Journal article
DOI:

10.1038/ng.2275

EID:

2-s2.0-84862992962

Contributors: Arboleda, V.A.; Lee, H.; Parnaik, R.; Fleming, A.; Banerjee, A.; Ferraz-De-Souza, B.; Délot, E.C.; Rodriguez-Fernandez, I.A.; Braslavsky, D.; Bergadá, I. et al.
Source: Self-asserted source
Valerie Arboleda via Scopus - Elsevier
Items per page:
Page 1 of 2

Peer review (13 reviews for 7 publications/grants)

Review activity for American journal of human genetics. (4)
Review activity for Communications biology. (1)
Review activity for European journal of medical genetics. (3)
Review activity for Genetics in medicine. (1)
Review activity for iScience. (1)
Review activity for Nature biotechnology. (2)
Review activity for Nature communications (1)