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M. Speer · SciRah

Researcher profile · Semantic Scholar

M. Speer

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M. Speer — researcher profile on SciRah

h-index: 46
Works: 141
Citations: 13K

Most-cited papers

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
K. White, Wayne E. Evans, J. O'Riordan, M. Speer +5 more
2000Nature Genetics1,462 citations
Semantic Scholar
Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.
T. Milhorat, M. W. Chou, Elizabeth M. Trinidad, R. Kula +3 more
1999Neurosurgery1,253 citations
Semantic Scholar
A Common MUC5B Promoter Polymorphism and Pulmonary Fibrosis
M. Seibold, A. Wise, M. Speer, M. Steele +25 more
2011New England Journal of Medicine1,084 citations Open access
Semantic Scholar
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.
Alan Q. Thomas, K. Lane, J. Phillips, Melissa A. Prince +10 more
2002American Journal of Respiratory and Critical Care Medicine630 citations
Semantic Scholar
Standardizing global gene expression analysis between laboratories and across platforms
T. Bammler, R. Beyer, S. Bhattacharya, G. Boorman +60 more
2005Nature Methods493 citations
Semantic Scholar
Clinical and pathologic features of familial interstitial pneumonia.
M. Steele, M. Speer, J. Loyd, Kevin K. Brown +9 more
2005American Journal of Respiratory and Critical Care Medicine417 citations Open access
Semantic Scholar
Human neural tube defects: developmental biology, epidemiology, and genetics.
E. Detrait, T. George, H. Etchevers, J. Gilbert +2 more
2005Neurotoxicology and Teratology394 citations Open access
Semantic Scholar
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S. Züchner, M. Noureddine, M. Kennerson, K. Verhoeven +12 more
2005Nature Genetics371 citations
Semantic Scholar
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Michael A. Hauser, S. Horrigan, P. Salmikangas, U. Torian +14 more
2000Human Molecular Genetics282 citations Open access
Semantic Scholar
Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics
M. Speer, D. Enterline, L. Mehltretter, Preston Hammock +6 more
2003Journal of Genetic Counseling228 citations Open access
Semantic Scholar
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
David N. Messina, M. Speer, M. Pericak-Vance, E. Mcnally
1997American Journal of Human Genetics182 citations Open access
Semantic Scholar
Genetic mapping of a novel familial form of infantile hemangioma.
Jeffrey W. Walter, Francine Blei, Jennifer L Anderson, S. Orlow +2 more
1999American journal of medical genetics167 citations
Semantic Scholar
Gene expression profiling of familial and sporadic interstitial pneumonia.
Ivana V. Yang, L. Burch, M. Steele, J. Savov +8 more
2007American Journal of Respiratory and Critical Care Medicine160 citations Open access
Semantic Scholar
Allelic and locus heterogeneity in inherited venous malformations.
Jennifer T. Calvert, Travis J. Riney, C. Kontos, Eugene H. Cha +9 more
1999Human Molecular Genetics143 citations Open access
Semantic Scholar
Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions
A. Boyles, Ashley V. Billups, Kristen Deak, Deborah G. Siegel +27 more
2006Environmental Health Perspectives136 citations Open access
Semantic Scholar
A genetic hypothesis for Chiari I malformation with or without syringomyelia.
M. Speer, T. George, D. Enterline, A. Franklin +2 more
2000Neurosurgical Focus118 citations Open access
Semantic Scholar
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
S. Thomas, Marie K Thomas, P. Wincker, C. Babarit +6 more
2008Human Molecular Genetics114 citations Open access
Semantic Scholar
Maternal fumonisin exposure as a risk factor for neural tube defects.
J. G. Waes, K. Voss, V. L. Stevens, M. Speer +1 more
2009Advances in Food and Nutrition Research113 citations
Semantic Scholar
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.
M. Econs, P. Mcenery, F. Lennon, M. Speer
1997Journal of Clinical Investigation112 citations Open access
Semantic Scholar
Candidate gene analysis in human neural tube defects
A. Boyles, Preston Hammock, M. Speer
2005American Journal of Medical Genetics. Part C, Seminars in Medical Genetics100 citations Open access
Semantic Scholar
myotilin Mutation found in second pedigree with LGMD1A.
Michael A. Hauser, Cecilia Conde, Valeria Kowaljow, G. Zeppa +6 more
2002American Journal of Human Genetics96 citations Open access
Semantic Scholar
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
Te-Cheng Pan, Rui-Zhu Zhang, M. Pericak-Vance, R. Tandan +6 more
1998Human Molecular Genetics96 citations
Semantic Scholar
Linkage Disequilibrium Inflates Type I Error Rates in Multipoint Linkage Analysis when Parental Genotypes Are Missing
A. Boyles, W. Scott, E. Martin, S. Schmidt +7 more
2005Human Heredity90 citations Open access
Semantic Scholar
Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects
Kristen Deak, Deborah G. Siegel, T. George, S. Gregory +2 more
2008Birth defects research. Clinical and molecular teratology82 citations Open access
Semantic Scholar
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.
Kristen Deak, M. Dickerson, E. Linney, D. Enterline +10 more
2005Birth defects research. Clinical and molecular teratology64 citations
Semantic Scholar
Spectrum of disease in familial focal and segmental glomerulosclerosis.
Peter J. Conlon, Kelvin L. Lynn, M. Winn, L. Quarles +4 more
1999Kidney International63 citations Open access
Semantic Scholar
A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
M. Econs, Nancy E. Friedman, P. S. N. Rowe, M. Speer +7 more
1998Journal of Clinical Endocrinology and Metabolism58 citations
Semantic Scholar
Studies of reduced folate carrier 1 (RFC1) A80G and 5,10‐methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects
A. R. Vieira, J. Murray, D. Trembath, I. Orioli +5 more
2005American Journal of Medical Genetics. Part A56 citations
Semantic Scholar
Estimated fumonisin exposure in Guatemala is greatest in consumers of lowland maize.
O. Torres, E. Palencia, Ligia Lopez de Pratdesaba, R. Grajeda +7 more
2007Journal of NutriLife55 citations Open access
Semantic Scholar
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10
E. Rampersaud, Alexander G. Bassuk, D. Enterline, Timothy M. George +30 more
2005Journal of Medical Genetics52 citations Open access
Semantic Scholar
Genetic Complexity and Parkinson's Disease
W. Scott, Staijich Jm, L. Yamaoka, M. Speer +3 more
199746 citations
Semantic Scholar
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4
Kristen L. Deak, R. Lemmers, J. Stajich, R. Klooster +5 more
2007Neurology44 citations
Semantic Scholar
Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.
Eileen P. Ahearn, M. Speer, Yuan-Tsong Chen, D. Steffens +5 more
2002American journal of medical genetics44 citations
Semantic Scholar
Respiratory muscle involvement in Bethlem myopathy
R. Haq, M. Speer, Mon-li Chu, R. Tandan
1999Neurology44 citations
Semantic Scholar
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations
Christina A Markunas, R. S. Tubbs, R. Moftakhar, A. Ashley-Koch +4 more
2012Journal of Neurosurgery: Pediatrics43 citations Open access
Semantic Scholar
Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele
C. Sebold, E. C. Melvin, Deborah G. Siegel, L. Mehltretter +6 more
2005Genetics in Medicine42 citations Open access
Semantic Scholar
A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p
S. Pillai, M. Chiano, Nicola J. White, M. Speer +21 more
2006European Journal of Human Genetics41 citations Open access
Semantic Scholar
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen α3(VI) chain interferes with protein folding
T. Sasaki, E. Hohenester, Rui-Zhu Zhang, Susan Gotta +4 more
2000The FASEB Journal41 citations
Semantic Scholar
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects
Kristen Deak, A. Boyles, H. Etchevers, E. C. Melvin +12 more
2005Human Genetics38 citations Open access
Semantic Scholar
Promoter sequence, expression, and fine chromosomal mapping of the human gene (MLP) encoding the MARCKS-like protein: identification of neighboring and linked polymorphic loci for MLP and MACS and use in the evaluation of human neural tube defects.
D. Stumpo, R. Eddy, L. Haley, S. Sait +7 more
1998Genomics36 citations
Semantic Scholar
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1
D. S. Stamm, C. Powell, J. Stajich, V. Zismann +7 more
2008Neurology32 citations
Semantic Scholar
A Community’s Awareness and Perceptions of Genomic Medicine
Susan E. Hahn, S. Letvak, Karen Powell, C. Christianson +7 more
2009Public Health Genomics30 citations Open access
Semantic Scholar
Apolipoprotein E alleles and sensorineural hearing loss
Gwendolyn M. O'Grady, A. Boyles, M. Speer, F. DeRuyter +2 more
2007International Journal of Audiology30 citations
Semantic Scholar
GAW10: Simulated family data for a common oligogenic disease with quantitative risk factors
J. Maccluer, J. Blangero, T. Dyer, M. Speer
1997Genetic Epidemiology30 citations
Semantic Scholar
Natural Food Folate and Late-Life Depression
M. Payne, B. Jamerson, C. Potocky, A. Ashley-Koch +2 more
2008Journal of Nutrition for the Elderly25 citations Open access
Semantic Scholar
Harnessing the power of the pedigree.
C. Wolpert, M. Speer
2005Journal of midwifery & women's health23 citations
Semantic Scholar
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
M. Speer, E. C. Melvin, Kristi D. Viles, K. Bauer +8 more
2002American journal of medical genetics23 citations
Semantic Scholar
Transcriptome Profiling of Genes Involved in Neural Tube Closure During Human Embryonic Development Using Long Serial Analysis of Gene Expression (Long-SAGE)
D. Krupp, Pu-Ting Xu, S. Thomas, A. Dellinger +6 more
2012Birth defects research. Clinical and molecular teratology22 citations Open access
Semantic Scholar
Power calculations for likelihood ratio tests for offspring genotype risks, maternal effects, and parent‐of‐origin (POO) effects in the presence of missing parental genotypes when unaffected siblings are available
E. Rampersaud, R. Morris, C. Weinberg, M. Speer +1 more
2007Genetic Epidemiology21 citations Open access
Semantic Scholar
Folate Metabolism Genes, Dietary Folate and Response to Antidepressant Medications in Late-Life Depression
B. Jamerson, M. Payne, M. Garrett, A. Ashley-Koch +2 more
2012International Journal of Geriatric Psychiatry20 citations Open access
Semantic Scholar

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