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Sarah Elsea

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Professor

Baylor College of Medicine

United States

Research Interests

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Recent Grants

Grant: Close

REFINING METRICS OF FOOD BEHAVIOR IN SMITH-MAGENIS SYNDROME

Open Date: 2022-08-26

Close Date: 2025-07-31

Grant: Close

The PMED-Qatar Study: Personalized Molecular Evaluation and Diagnosis for Rare Diseases in Qatar

Open Date: 2019-06-02

Close Date: 2023-09-14

Grant: Close

Preclinical Analyses of NAD Kinase as a Redox Vulnerability for the Treatment of Pancreatic Cancer

Open Date: 2016-12-05

Close Date: 2022-11-30

Grant: Close

Establishing zebrafish as a model for rai1 gene dosage

Open Date: 2010-09-01

Close Date: 2012-02-29

Grant: Close

Molecular Analysis of del(17)(p11.2)

Open Date: 2001-08-01

Close Date: 2007-06-30

Articles (20)

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2024

Collaborators (12)

Nishitha Pillai

University of Minnesota Twin Cities

UNITED STATES

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University Hospital

BELGIUM

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Laura Adang

Assistant Professor

Children's Hospital of Philadelphia

UNITED STATES

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Fiona Ulph

The University of Manchester

UNITED KINGDOM

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Stephanie Sisley

Associate Professor

Baylor College of Medicine

UNITED STATES

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Sarah Elsea

Research Interests

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Recent Grants

Articles (20)

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease

Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.

An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting

Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.

L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study.

Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.

Biallelic Loss-of-Function Variant in <i>MINPP1</i> Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

Broadcasters, receivers, functional groups of metabolites, and the link to heart failure by revealing metabolomic network connectivity.

Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome.

Collaborators (12)

Nishitha Pillai

Troy C. Lund

Panagiota Veloudi

Michael Wangler

Laura Milko

Youssef A Kousa, MS, DO, PhD

Julie B. Eisengart

Bo Yuan

François Boemer

Laura Adang

Fiona Ulph

Stephanie Sisley

Make your next move.

Sarah Elsea

Research Interests

Explore related searches

Recent Grants

Articles (20)

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Investigating food-related behaviors in Smith-Magenis syndrome: tailoring a questionnaire for a rare disease

Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.

An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting

Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.

L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study.

Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G&gt;A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.

Biallelic Loss-of-Function Variant in <i>MINPP1</i> Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

Broadcasters, receivers, functional groups of metabolites, and the link to heart failure by revealing metabolomic network connectivity.

Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome.

Collaborators (12)

Nishitha Pillai

Troy C. Lund

Panagiota Veloudi

Michael Wangler

Laura Milko

Youssef A Kousa, MS, DO, PhD

Julie B. Eisengart

Bo Yuan

François Boemer

Laura Adang

Fiona Ulph

Stephanie Sisley

Make your next move.

Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.