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Valerie A. Arboleda | Researchclopedia

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Valerie A. Arboleda

University of California, Los Angeles ORCID

111

Works

3,084

Citations

25

h-index

40

i10-index

Research Topics

Genomics and Rare Diseases Epigenetics and DNA Methylation Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Affiliations

Mayo Clinic2020–2020

University of California, Los Angeles2007–2025

UCLA Health2017–2025

WinnMed2020–2020

University of California System2022–2022

Top Works

Mutant Cohesin in Premature Ovarian Failure

Sandrine Caburet,Valerie A. Arboleda,et al.

2014314 citations

Sexual Differentiation and Disorders

Cancer Genomics and Diagnostics

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

Edwina Sutton,James Hughes,et al.

2010277 citations

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Ruth M. Baxter,Valerie A. Arboleda,et al.

2014231 citations

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

Thomas J. Davidson,Sivan Harel,et al.

2004211 citations

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

Valerie A. Arboleda,Hane Lee,et al.

2012206 citations

DSDs: genetics, underlying pathologies and psychosexual differentiation

Valerie A. Arboleda,David E. Sandberg,et al.

2014157 citations

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

Stefan J. White,Thomas Ohnesorg,et al.

2011140 citations

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda,Hane Lee,et al.

2015139 citations

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

Malika Freund,Kathryn S. Burch,et al.

2018111 citations