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List of works by Sarah H. Elsea

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

scientific article

ASAH1 pathogenic variants associated with acid ceramidase deficiency (ACD): Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

scientific article published on 25 May 2020

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

scientific article

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies

scientific article published on 6 January 2017

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

scientific article published on 08 June 2020

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

scientific article published on 29 September 2017

CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

scientific article published on 29 January 2021

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency

scientific article published on 07 March 2019

Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

scientific article published on 3 March 2016

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations

scientific article

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

scientific article published on 15 July 2020

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

scientific article published on 25 May 2016

Cloning of a human “epidermal-type” 12-lipoxygenase-related gene and chromosomal localization to 17p13 ⬇️

scientific article published on January 1, 1998

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD

scientific article published on 26 August 2020

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis

scientific article

Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast ⬇️

scientific article (publication date: 5 July 1992)

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

scientific article published on 27 July 2016

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities ⬇️

scientific article published on April 16, 2013

Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome ⬇️

scientific article published on June 29, 2012

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

scientific article published on 18 November 2015

Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay

scientific article published on 9 April 2017

Family planning--much more than the "pill"

scientific article published on May 1, 1970

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype

scientific article

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: Analysis of cell-cycle distribution and radiation sensitivity ⬇️

scientific article published on January 6, 1998

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

scientific article

Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay

scientific article

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor

scientific article published on 07 March 2019

Improved standards for prenatal diagnosis of citrullinemia

scientific article published on 16 May 2014

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome

scientific article

MBD5 Haploinsufficiency

scientific article

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes

scientific article published on October 2014

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights

scientific article published on 05 March 2019

Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats ⬇️

scientific article published on 01 January 1992

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder

scientific article published on 7 April 2015

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome

scientific article

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

scientific article published on 2 September 2015

Siblings of individuals with Smith–Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits ⬇️

scientific article published on June 7, 2012

Sickle cell disease in Grenada: Quality of life and barriers to care

scientific article published on 17 December 2020

Simultaneous determination of plasma total homocysteine and methionine by liquid chromatography-tandem mass spectrometry

scientific article published on 11 November 2016

Smith-Magenis Syndrome

scientific article published on 5 September 2019

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies

scientific article published on 9 March 2017

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience

scientific article

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