Education and Training

Publications

1. Lin I, Wei A, Gebo TA, Boutros PC, Flanagan M, Kucine N, Cunniff C, Arboleda VA, Chang VY. Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.. medRxiv : the preprint server for health sciences, 2024.
2. 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. KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.. Human genetics, 2023.
3. Wei A, Border R, Fu B, Cullina S, Brandes N, Sankararaman S, Kenny EE, Udler MS, Ntranos V, Zaitlen N, Arboleda VA. The genetic underpinnings of variable penetrance and expressivity of pathogenic mutations in cardiometabolic traits.. medRxiv : the preprint server for health sciences, 2023.
4. Sathe LM, Khan NN, Williams JM, Saul R, Jajieh K, Sartippour MR, Young R, Xie J, Marquette DM, Duncan T, Eskin E, Arboleda VA. 3D Printing as an Effective Quality Assurance Implementation in Massive-Scale SARS-CoV-2 Testing at a SwabSeq Next-Generation Sequencing Laboratory.. Laboratory medicine, 2023.
5. 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. KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.. bioRxiv : the preprint server for biology, 2023.
6. 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. Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.. Nature medicine, 2023.
7. 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. Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.. Cells, 2023.
8. Lin I, Wei A, Awamleh Z, Singh M, Ning A, Herrera A, REACH Biobank and Registry, Russell BE, Weksberg R, Arboleda VA. Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.. JCI insight, 2023.
9. Nava AA, Arboleda VA. The omics era: a nexus of untapped potential for Mendelian chromatinopathies.. Human genetics, 2023.
10. 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. Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.. Genome medicine, 2022.
11. Bondhus L, Varma R, Hernandez Y, Arboleda VA. Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity.. Briefings in bioinformatics, 2022.
12. 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. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.. Genome medicine, 2022.
13. Bondhus L, Wei A, Arboleda VA. DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features.. BMC bioinformatics, 2022.
14. Spendlove SJ, Bondhus L, Lluri G, Sul JH, Arboleda VA. Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.. HGG advances, 2022.
15. 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. 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.
16. 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. 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.
17. 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. 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.
18. Jones J, Saul R, Sathe L, Xie J, Marquette D, Arboleda VA. Lean Principles to Improve Quality in High-Throughput COVID-19 Testing Using SwabSeq: A Barcoded Sequencing-Based Testing Platform.. Laboratory medicine, 2022.
19. Adamson PC, Pfeffer MA, Arboleda VA, Garner OB, de St Maurice A, von Bredow B, Flint J, Kruglyak L, Currier JS. Lower Severe Acute Respiratory Syndrome Coronavirus 2 Viral Shedding Following Coronavirus Disease 2019 Vaccination Among Healthcare Workers in Los Angeles, California.. Open forum infectious diseases, 2021.
20. 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. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.. Molecular genetics & genomic medicine, 2021.
21. 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. 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.
22. 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. Swab-Seq: A high-throughput platform for massively scaled up SARS-CoV-2 testing.. medRxiv : the preprint server for health sciences, 2021.
23. Palafox MF, Desai HS, Arboleda VA, Backus KM. From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration.. Molecular systems biology, 2021.
24. 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. Metabolic reprogramming and epigenetic changes of vital organs in SARS-CoV-2-induced systemic toxicity.. JCI insight, 2021.
25. 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. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.. Genetics in medicine : official journal of the American College of Medical Genetics, 2020.
26. Arboleda VA, Xian RR. An Overview of DNA Analytical Methods.. Methods in molecular biology (Clifton, N.J.), 2019.
27. 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, 2018.
28. 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. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.. Genetics in medicine : official journal of the American College of Medical Genetics, 2018.
29. 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, 2018.
30. 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, 2018.
31. Arboleda VA, Garner OB. Ensuring the Quality of Point-of-Care Testing in a Large and Decentralized Ambulatory Care Setting.. American journal of clinical pathology, 2017.
32. 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. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.. Neuron, 2016.
33. 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, 2016.
34. 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), 2016.
35. Arboleda VA, Lee S. Lymphoma and gout coexisting in the same joint fluid.. Blood, 2015.
36. Contreras JR, Palanichamy JK, Tran TM, Fernando TR, Rodriguez-Malave NI, Goswami N, Arboleda VA, Casero D, Rao DS. MicroRNA-146a modulates B-cell oncogenesis by regulating Egr1.. Oncotarget, 2015.
37. 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, 2015.
38. 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. 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.
39. 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. Exome sequencing for the diagnosis of 46,XY disorders of sex development.. The Journal of clinical endocrinology and metabolism, 2014.
40. Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation.. Nature reviews. Endocrinology, 2014.
41. 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, 2014.
42. 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, 2014.
43. 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, 2012.
44. 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, 2012.
45. Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men.. Molecular genetics and metabolism, 2011.
46. 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. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.. PloS one, 2011.
47. 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. Identification of SOX3 as an XX male sex reversal gene in mice and humans.. The Journal of clinical investigation, 2010.
48. Prunell GF, Arboleda VA, Troy CM. Caspase function in neuronal death: delineation of the role of caspases in ischemia.. Current drug targets. CNS and neurological disorders, 2005.
49. Davidson TJ, Harel S, Arboleda VA, Prunell GF, Shelanski ML, Greene LA, Troy CM. Highly efficient small interfering RNA delivery to primary mammalian neurons induces MicroRNA-like effects before mRNA degradation.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2004.