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Stanley Nelson

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Professor

David Geffen School of Medicine at UCLA

United States

Research Interests

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Recent Grants

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UCLA clinical site for the investigation of undiagnosed disorders

Open Date: 2014-07-01

Close Date: 2022-06-30

Grant: Close

Rapid Phenotyping for Rare Variant Discovery in Autism

Open Date: 2011-09-01

Close Date: 2017-08-31

Grant: Close

Exome sequencing of melanomas with acquired resistance to BRAF inhibitors

Open Date: 2011-06-01

Close Date: 2014-05-31

Grant: Close

Identification of Enhancers of Therapeutic Exon Skipping for DMD

Open Date: 2009-09-25

Close Date: 2011-08-31

Grant: Close

UCLA Muscular Dystrophy Core Center

Open Date: 2009-04-01

Close Date: 2020-03-31

Articles (14)

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UNITED STATES

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The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology

UNITED STATES

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Christiane Zorbas

Université libre de Bruxelles

BELGIUM

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Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

UNITED STATES

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Director ad Interim Clinic 5, Full Professor, Consultant Neuropediatrics and Pediatrics, Head of Division for Pediatric Epileptology

Heidelberg University

GERMANY

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Stanley Nelson

Research Interests

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Recent Grants

Articles (14)

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects

The Genetic Architecture of Congenital Diarrhea and Enteropathy

ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Collaborators (15)

Maria T Acosta

Meghan Halley

Reshma Biniwale

Queenie K.-G Tan

Gloria Kafui Esi Zodanu

Mohamad Mikati

Deanna Bell

Jordan Mudery

Chu-Ting Chang

Christiane Zorbas

Nicholas Borja

Devin Oglesbee

Marcello Scala

Elizabeth Blue

Steffen Syrbe

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