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Devin Oglesbee

Mayo Clinic

United States

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Professors in United States

Articles (20)

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Collaborators (14)

Sylvie Girard

Mayo Clinic

UNITED STATES

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Meghan Halley

Assistant Professor

Medical College of Wisconsin

UNITED STATES

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Mohamad Mikati

Duke University

UNITED STATES

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Deanna Bell

Associate Professor; Medical Director, Program for Children with Medical Complexity

Vanderbilt University Medical Center

UNITED STATES

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Akhilesh Pandey

Professor

Mayo Clinic Rochester

UNITED STATES

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Chu-Ting Chang

The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology

UNITED STATES

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Nicholas Borja

Assistant Professor of Clinical Genetics

University of Miami Miller School of Medicine

UNITED STATES

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Matthew Wheeler

Associate Professor

Stanford University

UNITED STATES

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Andrea Cortes Fernandez

Assistant professor

Cincinnati Children's Hospital Medical Center

UNITED STATES

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Stanley Nelson

Professor

David Geffen School of Medicine at UCLA

UNITED STATES

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Elizabeth Blue

Professor

University of Washington

UNITED STATES

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Steffen Syrbe

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

Heidelberg University

GERMANY

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Austin Larson

Assistant Professor

UNITED STATES

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Consultant/Assistant Professor

Mayo Clinic

UNITED STATES

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Devin Oglesbee

Research Interests

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Articles (20)

Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia

Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease

Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins

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

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

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

The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders

Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy

Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia

Clinical Insights Into Disaccharidase Deficiency: Prevalence, Intestinal Histology, and Outcomes

Clinical utility of untargeted urine oligosaccharide screening

Lost in the Sauce: An Atypical Cause of Optic Neuropathy

Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing

Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches

Collaborators (14)

Sylvie Girard

Meghan Halley

Mohamad Mikati

Deanna Bell

Akhilesh Pandey

Chu-Ting Chang

Nicholas Borja

Matthew Wheeler

Andrea Cortes Fernandez

Stanley Nelson

Elizabeth Blue

Steffen Syrbe

Austin Larson

zhiyv niu

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