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Laura E MacMullen

Explore the profile of Laura E MacMullen including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 10
Citations 28
Followers 0
Related Specialties
Endocrinology
Genetics
Science
Top 10 Co-Authors
Marni J Falk
Ibrahim George-Sankoh
Amy Goldstein
Namni Goel
Zarazuela Zolkipli-Cunningham
Elizabeth M McCormick
Rui Xiao
Erika M Yamazaki
Rebecca D Ganetzky
Tommy H Ng
Published In
Front Physiol
Mol Genet Metab
Sci Rep
JCSM Clin Rep
JAMIA Open
Affiliations
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Recent Articles
1.
Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS)
Ganetzky R, Stanley K, MacMullen L, George-Sankoh I, Wang J, Goldstein A, et al.
Genet Med . 2025 Feb; :101386. PMID: 39985363
Introduction: Single Large-Scale mtDNA Deletions (SLSMD) result in Single Large Scale Deletion Syndromes (SLSMDS). SLSMDS presentations have classically been recognized to encompass at least three distinct clinical phenotypes, Pearson Syndrome...
2.
Expanded-access use of elamipretide in a critically ill patient with Barth syndrome
Goldstein A, Pantano C, Redko M, MacMullen L, Maeda K, OConnor M
Genet Med Open . 2024 Dec; 2:101859. PMID: 39669625
No abstract available.
3.
MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data
George-Sankoh I, MacMullen L, Chinwalla A, Taylor D, Ganetzky R, Stanley K, et al.
JAMIA Open . 2024 Nov; 7(4):ooae134. PMID: 39559492
Objective: To describe a novel data integration workflow developed to automate clinical and research electronic health system data integration and harmonization from siloed sources for centralized access, visualization and analysis...
4.
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine
MacMullen L, George-Sankoh I, Stanley K, McCormick E, Muraresku C, Goldstein A, et al.
Mol Genet Metab . 2024 Feb; 142(1):108348. PMID: 38387305
Purpose: Optimizing individualized clinical care in heterogeneous rare disorders, such as primary mitochondrial disease (PMD), will require gaining more comprehensive and objective understanding of the patient experience by longitudinally tracking...
5.
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Elander J, McCormick E, Varendh M, Stenfeldt K, Ganetzky R, Goldstein A, et al.
Mol Genet Metab . 2022 Oct; 137(3):230-238. PMID: 36182714
In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and...
6.
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Karaa A, MacMullen L, Campbell J, Christodoulou J, Cohen B, Klopstock T, et al.
Adv Genet (Hoboken) . 2022 Mar; 3(1). PMID: 35317023
Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable...
7.
Left Ventricular Ejection Time Measured by Echocardiography Differentiates Neurobehavioral Resilience and Vulnerability to Sleep Loss and Stress
Yamazaki E, Rosendahl-Garcia K, Casale C, MacMullen L, Ecker A, Kirkpatrick J, et al.
Front Physiol . 2022 Jan; 12:795321. PMID: 35087419
There are substantial individual differences (resilience and vulnerability) in performance resulting from sleep loss and psychosocial stress, but predictive potential biomarkers remain elusive. Similarly, marked changes in the cardiovascular system...
8.
Development of a Mitochondrial Myopathy-Composite Assessment Tool
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku C, et al.
JCSM Clin Rep . 2022 Jan; 6(4):109-127. PMID: 35071983
Background: 'Mitochondrial Myopathy' (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of muscle weakness, muscle fatigue, imbalance,...
9.
Cortisol and C-Reactive Protein Vary During Sleep Loss and Recovery but Are Not Markers of Neurobehavioral Resilience
Yamazaki E, Antler C, Casale C, MacMullen L, Ecker A, Goel N
Front Physiol . 2021 Dec; 12:782860. PMID: 34912243
Cortisol and C-reactive protein (CRP) typically change during total sleep deprivation (TSD) and psychological stress; however, it remains unknown whether these biological markers can differentiate robust individual differences in neurobehavioral...
10.
Impulsivity and sleep and circadian rhythm disturbance predict next-day mood symptoms in a sample at high risk for or with recent-onset bipolar spectrum disorder: An ecological momentary assessment study
Titone M, Goel N, Ng T, MacMullen L, Alloy L
J Affect Disord . 2021 Nov; 298(Pt A):17-25. PMID: 34728283
Background: Impulsivity and sleep and circadian rhythm disturbance are core features of bipolar spectrum disorders (BSDs) that are antecedents to onset and persist even between mood episodes; their pervasive presence...