Works by Arboleda, Valerie A

Results: 31

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

Published in:

Cells (2073-4409), 2023, v. 12, n. 11, p. 1455, doi. 10.3390/cells12111455

By:

Sono, Reiri;
Larrinaga, Tania M.;
Huang, Alden;
Makhlouf, Frank;
Kang, Xuedong;
Su, Jonathan;
Lau, Ryan;
Arboleda, Valerie A.;
Biniwale, Reshma;
Fishbein, Gregory A.;
Khanlou, Negar;
Si, Ming-Sing;
Satou, Gary M.;
Halnon, Nancy;
Van Arsdell, Glen S.;
Gregorio, Carol C.;
Nelson, Stanly;
Touma, Marlin

Publication type:

Article

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

Published in:

Clinical Infectious Diseases, 2022, v. 74, n. 2, p. 271, doi. 10.1093/cid/ciab360

By:

Hilt, Evann E;
Boocock, James;
Trejo, Marisol;
Le, Catherine Q;
Guo, Longhua;
Zhang, Yi;
Sathe, Laila;
Arboleda, Valerie A;
Yin, Yi;
Bloom, Joshua S;
Wang, Pin-Chieh;
Elmore, Joann G;
Kruglyak, Leonid;
Shrestha, Lasata;
Bakhash, Shah A Mohamed;
Lin, Michelle;
Xie, Hong;
Huang, Meei-Li;
Roychoudhury, Pavitra;
Greninger, Alexander

Publication type:

Article

Highly Efficient Small Interfering RNA Delivery to Primary Mammalian Neurons Induces MicroRNA-Like Effects before mRNA Degradation.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 45, p. 10040, doi. 10.1523/JNEUROSCI.3643-04.2004

By:

Davidson, Thomas J.;
Harel, Sivan;
Arboleda, Valerie A.;
Prunell, Giselle F.;
Shelanski, Michael L.;
Greene, Lloyd A.;
Troy, Carol M.

Publication type:

Article

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

Published in:

Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275

By:

Arboleda, Valerie A;
Lee, Hane;
Parnaik, Rahul;
Fleming, Alice;
Banerjee, Abhik;
Ferraz-de-Souza, Bruno;
Délot, Emmanuèle C;
Rodriguez-Fernandez, Imilce A;
Braslavsky, Debora;
Bergadá, Ignacio;
Dell'Angelica, Esteban C;
Nelson, Stanley F;
Martinez-Agosto, Julian A;
Achermann, John C;
Vilain, Eric

Publication type:

Article

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

Published in:

BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-04899-1

By:

Bondhus, Leroy;
Wei, Angela;
Arboleda, Valerie A.

Publication type:

Article

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Published in:

2011

By:

Sutton, Edwina;
Hughes, James;
White, Stefan;
Sekido, Ryohei;
Tan, Jacqueline;
Arboleda, Valerie;
Rogers, Nicholas;
Knower, Kevin;
Rowley, Lynn;
Eyre, Helen;
Rizzoti, Karine;
McAninch, Dale;
Goncalves, Joao;
Slee, Jennie;
Turbitt, Erin;
Bruno, Damien;
Bengtsson, Henrik;
Harley, Vincent;
Vilain, Eric;
Sinclair, Andrew

Publication type:

journal article

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

Published in:

Biology of Sex Differences, 2018, v. 9, p. 1, doi. 10.1186/s13293-018-0167-9

By:

Barseghyan, Hayk;
Symon, Aleisha;
Zadikyan, Mariam;
Almalvez, Miguel;
Segura, Eva E.;
Eskin, Ascia;
Bramble, Matthew S.;
Arboleda, Valerie A.;
Baxter, Ruth;
Nelson, Stanley F.;
Délot, Emmanuèle C.;
Harley, Vincent;
Vilain, Eric

Publication type:

Article

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

Published in:

Cell Division, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13008-015-0008-8

By:

Borges, Kleiton S.;
Arboleda, Valerie A.;
Vilain, Eric

Publication type:

Article

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

Published in:

BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08488-7

By:

Guo, Longhua;
Boocock, James;
Hilt, Evann E.;
Chandrasekaran, Sukantha;
Zhang, Yi;
Munugala, Chetan;
Sathe, Laila;
Alexander, Noah;
Arboleda, Valerie A.;
Flint, Jonathan;
Eskin, Eleazar;
Luo, Chongyuan;
Yang, Shangxin;
Garner, Omai B.;
Yin, Yi;
Bloom, Joshua S.;
Kruglyak, Leonid

Publication type:

Article

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

Published in:

Briefings in Bioinformatics, 2022, v. 23, n. 5, p. 1, doi. 10.1093/bib/bbac158

By:

Bondhus, Leroy;
Varma, Roshni;
Hernandez, Yenifer;
Arboleda, Valerie A

Publication type:

Article

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

Published in:

2022

By:

Johnson, Ruth;
Ding, Yi;
Venkateswaran, Vidhya;
Bhattacharya, Arjun;
Boulier, Kristin;
Chiu, Alec;
Knyazev, Sergey;
Schwarz, Tommer;
Freund, Malika;
Zhan, Lingyu;
Burch, Kathryn S.;
Caggiano, Christa;
Hill, Brian;
Rakocz, Nadav;
Balliu, Brunilda;
Denny, Christopher T.;
Sul, Jae Hoon;
Zaitlen, Noah;
Arboleda, Valerie A.;
Halperin, Eran

Publication type:

Correction Notice

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

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01106-x

By:

Johnson, Ruth;
Ding, Yi;
Venkateswaran, Vidhya;
Bhattacharya, Arjun;
Boulier, Kristin;
Chiu, Alec;
Knyazev, Sergey;
Schwarz, Tommer;
Freund, Malika;
Zhan, Lingyu;
Burch, Kathryn S.;
Caggiano, Christa;
Hill, Brian;
Rakocz, Nadav;
Balliu, Brunilda;
Denny, Christopher T.;
Sul, Jae Hoon;
Zaitlen, Noah;
Arboleda, Valerie A.;
Halperin, Eran

Publication type:

Article

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

Published in:

Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01106-x

By:

Johnson, Ruth;
Ding, Yi;
Venkateswaran, Vidhya;
Bhattacharya, Arjun;
Boulier, Kristin;
Chiu, Alec;
Knyazev, Sergey;
Schwarz, Tommer;
Freund, Malika;
Zhan, Lingyu;
Burch, Kathryn S.;
Caggiano, Christa;
Hill, Brian;
Rakocz, Nadav;
Balliu, Brunilda;
Denny, Christopher T.;
Sul, Jae Hoon;
Zaitlen, Noah;
Arboleda, Valerie A.;
Halperin, Eran

Publication type:

Article

Lower Severe Acute Respiratory Syndrome Coronavirus 2 Viral Shedding Following Coronavirus Disease 2019 Vaccination Among Healthcare Workers in Los Angeles, California.

Published in:

2021

By:

Adamson, Paul C;
Pfeffer, Michael A;
Arboleda, Valerie A;
Garner, Omai B;
Maurice, Annabelle de St;
Bredow, Benjamin von;
Flint, Jonathan;
Kruglyak, Leonid;
Currier, Judith S

Publication type:

Case Study

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

Published in:

2015

By:

Baxter, Ruth M;
Arboleda, Valerie A;
Lee, Hane;
Barseghyan, Hayk;
Adam, Margaret P;
Fechner, Patricia Y;
Bargman, Renee;
Keegan, Catherine;
Travers, Sharon;
Schelley, Susan;
Hudgins, Louanne;
Mathew, Revi P;
Stalker, Heather J;
Zori, Roberto;
Gordon, Ora K;
Ramos-Platt, Leigh;
Pawlikowska-Haddal, Anna;
Eskin, Ascia;
Nelson, Stanley F;
Délot, Emmanuèle

Publication type:

journal article

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

Published in:

Human Genetics, 2024, v. 143, n. 4, p. 475, doi. 10.1007/s00439-023-02560-2

By:

Nava, Aileen A.;
Arboleda, Valerie A.

Publication type:

Article

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.

Published in:

Human Genetics, 2023, v. 142, n. 12, p. 1705, doi. 10.1007/s00439-023-02608-3

By:

Singh, Meghna;
Spendlove, Sarah J.;
Wei, Angela;
Bondhus, Leroy M.;
Nava, Aileen A.;
de L. Vitorino, Francisca N.;
Amano, Seth;
Lee, Jacob;
Echeverria, Gesenia;
Gomez, Dianne;
Garcia, Benjamin A.;
Arboleda, Valerie A.

Publication type:

Article

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02039-7

By:

Lin, Isabella;
Awamleh, Zain;
Sinvhal, Mili;
Wan, Andrew;
Bondhus, Leroy;
Wei, Angela;
Russell, Bianca E.;
Weksberg, Rosanna;
Arboleda, Valerie A.

Publication type:

Article

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2829, doi. 10.1002/ajmg.a.40533

By:

Datkhaeva, Ilina;
Arboleda, Valerie A.;
Senaratne, T. Niroshi;
Nikpour, Gelareh;
Meyerson, Cherise;
Geng, Yipeng;
Afshar, Yalda;
Scibetta, Emily;
Goldstein, Jeffrey;
Quintero‐Rivera, Fabiola;
Crandall, Barbara F.;
Grody, Wayne W.;
Deignan, Joshua;
Janzen, Carla

Publication type:

Article

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

Published in:

Molecular Systems Biology, 2021, v. 17, n. 2, p. 1, doi. 10.15252/msb.20209840

By:

Palafox, Maria F;
Desai, Heta S;
Arboleda, Valerie A;
Backus, Keriann M

Publication type:

Article

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

Published in:

2016

By:

Bramble, Matthew S.;
Goldstein, Ellen H.;
Lipson, Allen;
Ngun, Tuck;
Eskin, Ascia;
Gosschalk, Jason E.;
Roach, Lara;
Vashist, Neerja;
Barseghyan, Hayk;
Lee, Eric;
Arboleda, Valerie A.;
Vaiman, Daniel;
Yuksel, Zafer;
Fellous, Marc;
Vilain, Eric

Publication type:

journal article

Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners.

Published in:

Epigenetics & Chromatin, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13072-025-00571-z

By:

Bondhus, Leroy;
Nava, Aileen A.;
Liu, Isabelle S.;
Arboleda, Valerie A.

Publication type:

Article

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis.

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017793

By:

White, Stefan;
Ohnesorg, Thomas;
Notini, Amanda;
Roeszler, Kelly;
Hewitt, Jacqueline;
Daggag, Hinda;
Smith, Craig;
Turbitt, Erin;
Gustin, Sonja;
van den Bergen, Jocelyn;
Miles, Denise;
Western, Patrick;
Arboleda, Valerie;
Schumacher, Valerie;
Gordon, Lavinia;
Bell, Katrina;
Bengtsson, Henrik;
Speed, Terry;
Hutson, John;
Warne, Garry

Publication type:

Article

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

Published in:

Laboratory Medicine, 2023, v. 54, n. 5, p. 512, doi. 10.1093/labmed/lmac161

By:

Sathe, Laila M;
Khan, Nishrat N;
Williams, Jazmine M;
Saul, Rosita;
Jajieh, Kane;
Sartippour, Maryam R;
Young, Rachel;
Xie, Joanna;
Marquette, Dawn M;
Duncan, Tiffany;
Eskin, Eleazar;
Arboleda, Valerie A

Publication type:

Article

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

Published in:

Laboratory Medicine, 2022, v. 53, n. 1, p. e8, doi. 10.1093/labmed/lmab069

By:

Jones, Janae;
Saul, Rosita;
Sathe, Laila;
Xie, Joanna;
Marquette, Dawn;
Arboleda, Valerie A

Publication type:

Article

Regulation of Sex Determination in Mice by a Non-coding Genomic Region.

Published in:

Genetics, 2014, v. 197, n. 3, p. 885, doi. 10.1534/genetics.113.160259

By:

Arboleda, Valerie A.;
Fleming, Alice;
Barseghyan, Hayk;
Délot, Emmanuèle;
Sinsheimer, Janet S.;
Vilain, Eric

Publication type:

Article

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60339-7

By:

Wei, Angela;
Border, Richard;
Fu, Boyang;
Cullina, Sinéad;
Brandes, Nadav;
Jang, Seon-Kyeong;
Sankararaman, Sriram;
Kenny, Eimear E.;
Udler, Miriam S.;
Ntranos, Vasilis;
Zaitlen, Noah;
Arboleda, Valerie A.

Publication type:

Article

Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.

Published in:

Science Translational Medicine, 2024, v. 16, n. 745, p. 1, doi. 10.1126/scitranslmed.ade4510

By:

Johnson, Ruth;
Stephens, Alexis V.;
Mester, Rachel;
Knyazev, Sergey;
Kohn, Lisa A.;
Freund, Malika K.;
Bondhus, Leroy;
Hill, Brian L.;
Schwarz, Tommer;
Zaitlen, Noah;
Arboleda, Valerie A.;
A. Bastarache, Lisa;
Pasaniuc, Bogdan;
Butte, Manish J.

Publication type:

Article

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

Published in:

2017

By:

Arboleda, Valerie A.;
Garner, Omai B.

Publication type:

journal article

Reigning in the Point-of-Care Beast: Assessing Quality of Point-of-Care Testing Within the Ambulatory Network of a Large Health System.

Published in:

2017

By:

Arboleda, Valerie;
Garner, Omai

Publication type:

journal article

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

Published in:

Scientific Reports, 2016, p. 36916, doi. 10.1038/srep36916

By:

Bramble, Matthew S.;
Roach, Lara;
Lipson, Allen;
Vashist, Neerja;
Eskin, Ascia;
Ngun, Tuck;
Gosschalk, Jason E.;
Klein, Steven;
Barseghyan, Hayk;
Arboleda, Valerie A.;
Vilain, Eric

Publication type:

Article