Marcy C. Speer

Medicine · Health Sciences

47h-index13.2kcitations173works0.02yr avg
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Research Topics

Folate and B Vitamins Research(23), Muscle Physiology and Disorders(22), Genetic Neurodegenerative Diseases(19), RNA Research and Splicing(13), Cardiomyopathy and Myosin Studies(13)

Publications171 total

High Density SNP Screen in A Large Multiplex Neural Tube Defect Family Refines Linkage to Loci at 7p21-Pter And 2q33.1-35
UNC Libraries·2021Open Access
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
UNC Libraries·2020Open Access
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy
UNC Libraries·2020Open Access
Isolation and transcriptional profiling of embryonic human neural crest cells
Faculty of 1000 Research Ltd·2016Open Access
Transcriptome analysis of genes involved in neural tube closure during human embryonic development using Long-SAGE
Faculty of 1000 Research Ltd·2016Open Access
Genetic Association Analyses of Nitric Oxide Synthase Genes and Neural Tube Defects Vary by Phenotype
Birth Defects Research Part B Developmental and Reproductive Toxicology·2013· 5 citedOpen Access
Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy
Nature Communications·2013· 256 citedOpen Access
Folate metabolism genes, dietary folate and response to antidepressant medications in late‐life depression
International Journal of Geriatric Psychiatry·2012· 21 cited
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long‐SAGE)
Birth Defects Research Part A Clinical and Molecular Teratology·2012· 27 cited
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations
Journal of Neurosurgery Pediatrics·2012· 48 citedOpen Access
A functional alternative splicing mutation in human tryptophan hydroxylase-2
International Clinical Psychopharmacology·2011
A Common <i>MUC5B</i> Promoter Polymorphism and Pulmonary Fibrosis
New England Journal of Medicine·2011· 1.2k citedOpen Access
A functional alternative splicing mutation in human tryptophan hydroxylase-2
Molecular Psychiatry·2010· 27 citedOpen Access
Natural Food Folate and Late-Life Depression
Journal of Nutrition for the Elderly·2009· 26 cited
A Community’s Awareness and Perceptions of Genomic Medicine
Public Health Genomics·2009· 32 citedOpen Access
Chapter 5 Maternal Fumonisin Exposure as a Risk Factor for Neural Tube Defects
Advances in food and nutrition research·2009· 119 cited
Further evidence for a maternal genetic effect and a sex‐influenced effect contributing to risk for human neural tube defects
Birth Defects Research Part A Clinical and Molecular Teratology·2008· 80 citedOpen Access
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
Human Molecular Genetics·2008· 105 citedOpen Access
Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia
American Journal of Medical Genetics Part A·2008· 81 cited
Refinement of 2q and 7p loci in a large multiplex NTD family
Birth Defects Research Part A Clinical and Molecular Teratology·2008· 13 cited
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Frequent Co-authors

Timothy M. George(9), Jeffery M. Vance(8), David S. Enterline(7), John R. Gilbert(6), Margaret A. Pericak‐Vance(6), David A. Schwartz(5), Lorraine Mehltretter(5), Abee L. Boyles(5), Larry H. Yamaoka(5), Thomas H. Milhorat(4), Susan H. Slifer(4), Allison E. Ashley‐Koch(4), Preston Hammock(4), Jürg Ott(4), Deborah G. Siegel(4), Michael J. Econs(3), Mark P. Steele(3), James E. Loyd(3), Marvin I. Schwarz(3), Jonathan L. Haines(3)