Heather C Mefford
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Explore the profile of Heather C Mefford including associated specialties, affiliations and a list of published articles.
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207
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Recent Articles
1.
Finkel R, Hughes S, Parker J, Civitello M, Lavado A, Mefford H, et al.
N Engl J Med
. 2025 Feb;
392(11):1138-1140.
PMID: 39970420
No abstract available.
2.
LaFlamme C, Karimi K, Rastin C, Almanza Fuerte E, Allan T, Russ-Hall S, et al.
Epilepsia
. 2025 Feb;
PMID: 39932319
DNA methylation signatures ("episignatures") can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants...
3.
Marquez J, Cech J, Paschal C, Dingmann B, Scott A, Thies J, et al.
Genet Med Open
. 2024 Nov;
2.
PMID: 39484203
Purpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or...
4.
Prince S, Bonkowski E, McGraw C, SanInocencio C, Mefford H, Carvill G, et al.
Ther Adv Rare Dis
. 2024 Oct;
5:26330040241283749.
PMID: 39391213
Coalition to Cure CHD2 (CCC) is a patient advocacy group dedicated to improving the lives of those affected by CHD2-related disorders (CHD2-RD) by increasing education, building community, and accelerating research...
5.
Chourasia N, Vaidya R, Sengupta S, Mefford H, Wheless J
Pediatr Neurol
. 2024 Oct;
161:101-107.
PMID: 39357456
Background: The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB)...
6.
Saettini F, Guerra F, Mauri M, Salter C, Adam M, Adams D, et al.
J Clin Immunol
. 2024 Sep;
45(1):15.
PMID: 39312004
Purpose: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia)...
7.
Scheffer I, Zuberi S, Mefford H, Guerrini R, McTague A
Nat Rev Dis Primers
. 2024 Sep;
10(1):66.
PMID: 39271712
No abstract available.
8.
Scheffer I, Zuberi S, Mefford H, Guerrini R, McTague A
Nat Rev Dis Primers
. 2024 Sep;
10(1):61.
PMID: 39237642
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or...
9.
Ellis C, Oliver K, Harris R, Ottman R, Scheffer I, Mefford H, et al.
Am J Hum Genet
. 2024 Aug;
111(9):1805-1809.
PMID: 39168121
Polygenic risk scores (PRSs) are an important tool for understanding the role of common genetic variants in human disease. Standard best practices recommend that PRSs be analyzed in cohorts that...
10.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...