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Emmanuèle C. Délot | Researchclopedia

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Emmanuèle C. Délot

University of California, Irvine ORCID

98

Works

3,084

Citations

29

h-index

44

i10-index

Research Topics

Sexual Differentiation and Disorders Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Genomics and Phylogenetic Studies

Affiliations

Pontifical Gregorian University2025–2025

Cedars-Sinai Medical Center1998–1999

George Washington University Hospital2019–2022

Children’s Institute2020–2020

Children's National2017–2024

Top Works

Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans

Brian K. Jordan,Mansoor Mohammed,et al.

2001365 citations

Genomics and Rare Diseases

Urological Disorders and Treatments

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

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

2014231 citations

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

Valerie A. Arboleda,Hane Lee,et al.

2012206 citations

BMP signaling is required for septation of the outflow tract of the mammalian heart

Emmanuèle C. Délot,Matthew E. Bahamonde,et al.

2002205 citations

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Hayk Barseghyan,W.H. Wilson Tang,et al.

2017113 citations

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

Monica H. Wojcik,Chloe M. Reuter,et al.

2023112 citations

Towards improved genetic diagnosis of human differences of sex development

Emmanuèle C. Délot,Éric Vilain

2021103 citations

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen,Ruebena Dawes,et al.

2024103 citations

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

Valerie A. Arboleda,H Lee,et al.

201296 citations