| Year |
Citation |
Score |
| 2016 |
Xu P, Thomas S, Dellinger A, Etchevers H, Vekemans M, Gilbert JR, Speer MC. Transcriptome analysis of genes involved in neural tube closure during human embryonic development using Long-SAGE F1000research. 5. DOI: 10.7490/F1000Research.1111340.1 |
0.329 |
|
| 2013 |
Soldano KL, Garrett ME, Cope HL, Rusnak JM, Ellis NJ, Dunlap KL, Speer MC, Gregory SG, Ashley-Koch AE. Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype. Birth Defects Research. Part B, Developmental and Reproductive Toxicology. 98: 365-73. PMID 24323870 DOI: 10.1002/Bdrb.21079 |
0.427 |
|
| 2012 |
Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG. 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. 94: 683-92. PMID 22806986 DOI: 10.1002/Bdra.23040 |
0.334 |
|
| 2011 |
Zhang X, Nicholls PJ, Laje G, Sotnikova TD, Gainetdinov RR, Albert PR, Rajkowska G, Stockmeier CA, Speer MC, Steffens DC, Austin MC, McMahon FJ, Krishnan KR, Garcia-Blanco MA, Caron MG. A functional alternative splicing mutation in human tryptophan hydroxylase-2. Molecular Psychiatry. 16: 1169-76. PMID 20856248 DOI: 10.1097/01.Yic.0000405901.80483.0B |
0.311 |
|
| 2009 |
Gelineau-van Waes J, Voss KA, Stevens VL, Speer MC, Riley RT. Chapter 5 Maternal Fumonisin Exposure as a Risk Factor for Neural Tube Defects Advances in Food and Nutrition Research. 56: 145-181. PMID 19389609 DOI: 10.1016/S1043-4526(08)00605-0 |
0.316 |
|
| 2008 |
Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC. 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. 82: 662-9. PMID 18937341 DOI: 10.1002/Bdra.20511 |
0.725 |
|
| 2008 |
Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC. Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 71: 1764-9. PMID 18843099 DOI: 10.1212/01.Wnl.0000325060.16532.40 |
0.716 |
|
| 2008 |
Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. American Journal of Medical Genetics. Part A. 146: 1832-41. PMID 18553514 DOI: 10.1002/Ajmg.A.32370 |
0.308 |
|
| 2008 |
Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC. Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 441-52. PMID 18452155 DOI: 10.1002/Bdra.20462 |
0.466 |
|
| 2007 |
Züchner S, Roberts ST, Speer MC, Beckham JC. Update on psychiatric genetics. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 332-40. PMID 17575499 DOI: 10.1097/Gim.0B013E318065A9Fa |
0.342 |
|
| 2007 |
O'Grady G, Boyles AL, Speer M, DeRuyter F, Strittmatter W, Worley G. Apolipoprotein E alleles and sensorineural hearing loss International Journal of Audiology. 46: 183-186. PMID 17454231 DOI: 10.1080/14992020601145294 |
0.691 |
|
| 2007 |
Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 68: 578-82. PMID 17229919 DOI: 10.1212/01.Wnl.0000254991.21818.F3 |
0.734 |
|
| 2007 |
Rampersaud E, Morris RW, Weinberg CR, Speer MC, Martin ER. 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. Genetic Epidemiology. 31: 18-30. PMID 17096358 DOI: 10.1002/Gepi.20189 |
0.639 |
|
| 2007 |
Yang IV, Burch LH, Steele MP, Savov JD, Hollingsworth JW, McElvania-Tekippe E, Berman KG, Speer MC, Sporn TA, Brown KK, Schwarz MI, Schwartz DA. Gene expression profiling of familial and sporadic interstitial pneumonia. American Journal of Respiratory and Critical Care Medicine. 175: 45-54. PMID 16998095 DOI: 10.1164/Rccm.200601-062Oc |
0.376 |
|
| 2006 |
Speer MC. Use of LINKAGE programs for linkage analysis. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Unit 1.7. PMID 18428385 DOI: 10.1002/0471142905.Hg0107S48 |
0.393 |
|
| 2006 |
Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Mehltretter L, Gilbert JR, Hu-Lince D, Stephan D, Batzdorf U, Benzel E, Ellenbogen R, Green BA, Kula R, Menezes A, ... ... Speer MC, et al. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. American Journal of Medical Genetics. Part A. 140: 2776-85. PMID 17103432 DOI: 10.1002/Ajmg.A.31546 |
0.744 |
|
| 2006 |
Boyles AL, Billups AV, Deak KL, Siegel DG, Mehltretter L, Slifer SH, Bassuk AG, Kessler JA, Reed MC, Nijhout HF, George TM, Enterline DS, Gilbert JR, Speer MC. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environmental Health Perspectives. 114: 1547-52. PMID 17035141 DOI: 10.1289/Ehp.9166 |
0.772 |
|
| 2006 |
Stamm DS, Rampersaud E, Slifer SH, Mehltretter L, Siegel DG, Xie J, Hu-Lince D, Craig DW, Stephan DA, George TM, Gilbert JR, Speer MC. High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. Birth Defects Research. Part a, Clinical and Molecular Teratology. 76: 499-505. PMID 16933213 DOI: 10.1002/Bdra.20272 |
0.684 |
|
| 2006 |
Pillai SG, Chiano MN, White NJ, Speer M, Barnes KC, Carlsen K, Gerritsen J, Helms P, Lenney W, Silverman M, Sly P, Sundy J, Tsanakas J, von Berg A, Whyte M, et al. 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. European Journal of Human Genetics : Ejhg. 14: 307-16. PMID 16391567 DOI: 10.1038/Sj.Ejhg.5201532 |
0.366 |
|
| 2006 |
Halford J, Mazeika G, Slifer S, Speer M, Saunders AM, Strittmatter WJ, Morgenlander JC. APOE2 allele increased in tardive dyskinesia. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 540-2. PMID 16261623 DOI: 10.1002/Mds.20768 |
0.34 |
|
| 2006 |
STEELE MP, SPEER MC, LOYD JC, BROWN KK, HERRON A, SLIFER SH, BURCH LH, WAHIDI M, PHILLIPS JA, SPORN TA, MCADAMS HP, SCHWARZ MI, SCHWARTZ DA. The role of genetics and cigarette smoking in the development of pulmonary fibrosis Respirology. 11: S23-S23. DOI: 10.1111/J.1440-1843.2006.00802.X |
0.348 |
|
| 2005 |
Rampersaud E, Scott WK, Hauser ER, Speer MC. Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs. Journal of Medical Genetics. 42: e68. PMID 16326825 DOI: 10.1136/Jmg.2005.032029 |
0.601 |
|
| 2005 |
Deak KL, Dickerson ME, Linney E, Enterline DS, George TM, Melvin EC, Graham FL, Siegel DG, Hammock P, Mehltretter L, Bassuk AG, Kessler JA, Gilbert JR, Speer MC. Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 868-75. PMID 16237707 DOI: 10.1002/Bdra.20183 |
0.733 |
|
| 2005 |
Steele MP, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA, Sporn TA, McAdams HP, Schwarz MI, Schwartz DA. Clinical and pathologic features of familial interstitial pneumonia. American Journal of Respiratory and Critical Care Medicine. 172: 1146-52. PMID 16109978 DOI: 10.1164/Rccm.200408-1104Oc |
0.305 |
|
| 2005 |
Boyles AL, Scott WK, Martin ER, Schmidt S, Li YJ, Ashley-Koch A, Bass MP, Schmidt M, Pericak-Vance MA, Speer MC, Hauser ER. Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Human Heredity. 59: 220-7. PMID 16093727 DOI: 10.1159/000087122 |
0.711 |
|
| 2005 |
Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicology and Teratology. 27: 515-24. PMID 15939212 DOI: 10.1016/J.Ntt.2004.12.007 |
0.331 |
|
| 2005 |
Wolpert CM, Speer MC. Harnessing the power of the pedigree. Journal of Midwifery & Women's Health. 50: 189-96. PMID 15894996 DOI: 10.1016/J.Jmwh.2005.02.003 |
0.345 |
|
| 2005 |
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, ... Speer MC, et al. SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Human Genetics. 117: 133-42. PMID 15883837 DOI: 10.1007/S00439-005-1299-7 |
0.775 |
|
| 2005 |
Vieira AR, Murray JC, Trembath D, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Lennon-Graham F, Speer M. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. American Journal of Medical Genetics. Part A. 135: 220-3. PMID 15880745 DOI: 10.1002/Ajmg.A.30705 |
0.308 |
|
| 2005 |
Bammler T, Beyer RP, Bhattacharya S, Boorman GA, Boyles A, Bradford BU, Bumgarner RE, Bushel PR, Chaturvedi K, Choi D, Cunningham ML, Deng S, Dressman HK, Fannin RD, Farin FM, ... ... Speer MC, et al. Standardizing global gene expression analysis between laboratories and across platforms. Nature Methods. 2: 351-6. PMID 15846362 DOI: 10.1038/Nmeth754 |
0.679 |
|
| 2005 |
Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, ... ... Speer MC, et al. Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. Journal of Medical Genetics. 42: 940-6. PMID 15831595 DOI: 10.1136/Jmg.2005.031658 |
0.682 |
|
| 2005 |
Boyles AL, Hammock P, Speer MC. Candidate gene analysis in human neural tube defects. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 135: 9-23. PMID 15816061 DOI: 10.1002/Ajmg.C.30048 |
0.732 |
|
| 2005 |
Bastress KL, Stajich JM, Speer MC, Gilbert JR. The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B. Neuromuscular Disorders : Nmd. 15: 316-20. PMID 15792872 DOI: 10.1016/J.Nmd.2004.12.006 |
0.438 |
|
| 2005 |
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics. 37: 289-94. PMID 15731758 DOI: 10.1038/Ng1514 |
0.384 |
|
| 2005 |
Sebold CD, Melvin EC, Siegel D, Mehltretter L, Enterline DS, Nye JS, Kessler J, Bassuk A, Speer MC, George TM. Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele Genetics in Medicine. 7: 64-67. PMID 15654231 DOI: 10.1097/01.Gim.0000151158.09278.2B |
0.373 |
|
| 2005 |
Mathias RA, Beaty TH, Bailey-Wilson JE, Bickel C, Stockton ML, Barnes KC, Becker T, Knapp M, Vieland VJ, Wu X, Naiman DQ, Bergemann TL, Clarkson DB, Boyles AL, Scott WK, ... ... Speer MC, et al. Contents Vol. 59, 2005 Human Heredity. 59: 241-241. DOI: 10.1159/000087469 |
0.639 |
|
| 2005 |
Mathias RA, Beaty TH, Bailey-Wilson JE, Bickel C, Stockton ML, Barnes KC, Becker T, Knapp M, Vieland VJ, Wu X, Naiman DQ, Bergemann TL, Clarkson DB, Boyles AL, Scott WK, ... ... Speer MC, et al. Subject Index Vol. 59, 2005 Human Heredity. 59: 240-240. DOI: 10.1159/000087468 |
0.647 |
|
| 2004 |
Benz LP, Swift FE, Graham FL, Enterline DS, Melvin EC, Hammock P, Gilbert JR, Speer MC, Bassuk AG, Kessler JA, George TM. TERC is not a major gene in human neural tube defects. Birth Defects Research. Part a, Clinical and Molecular Teratology. 70: 531-3. PMID 15329831 DOI: 10.1002/Bdra.20057 |
0.371 |
|
| 2004 |
Sood R, Bader PI, Speer MC, Edwards YH, Eddings EM, Blair RT, Hu P, Faruque MU, Robbins CM, Zhang H, Leuders J, Morrison K, Thompson D, Schwartzberg PL, Meltzer PS, et al. Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis. Cytogenetic and Genome Research. 106: 61-7. PMID 15218243 DOI: 10.1159/000078563 |
0.404 |
|
| 2004 |
Rampersaud E, Brusato C, Melvin EC, Speer MC, Metcalf K. No evidence for heterozygote advantage at MTHFR in patients with lumbosacral myelomeningocele or their relatives. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 6: 69-70. PMID 14726815 DOI: 10.1097/01.Gim.0000106162.27561.68 |
0.568 |
|
| 2003 |
Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, Ellenbogen RG, Milhorat TH, Hauser MA, George TM. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics. Journal of Genetic Counseling. 12: 297-311. PMID 26141174 DOI: 10.1023/A:1023948921381 |
0.331 |
|
| 2003 |
Rampersaud E, Melvin EC, Siegel D, Mehltretter L, Dickerson ME, George TM, Enterline D, Nye JS, Speer MC. Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects. Clinical Genetics. 63: 210-4. PMID 12694231 DOI: 10.1034/J.1399-0004.2003.00043.X |
0.658 |
|
| 2002 |
Speer MC, Graham FL, Bonner E, Collier K, Stajich JM, Gaskell PC, Pericak-Vance MA, Vance JM. Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. Neurogenetics. 4: 83-5. PMID 12481986 DOI: 10.1007/S10048-002-0139-3 |
0.407 |
|
| 2002 |
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. myotilin Mutation found in second pedigree with LGMD1A. American Journal of Human Genetics. 71: 1428-32. PMID 12428213 DOI: 10.1086/344532 |
0.337 |
|
| 2002 |
Bauer KA, George TM, Enterline DS, Stottmann RW, Melvin EC, Siegel D, Samal S, Hauser MA, Klingensmith J, Nye JS, Speer MC. A novel mutation in the gene encoding noggin is not causative in human neural tube defects. Journal of Neurogenetics. 16: 65-71. PMID 12420790 DOI: 10.1080/Neg.16.1.65.71-1 |
0.366 |
|
| 2002 |
Ahearn EP, Speer MC, Chen YT, Steffens DC, Cassidy F, Van Meter S, Provenzale JM, Weisler RH, Krishnan KR. Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. American Journal of Medical Genetics. 114: 652-8. PMID 12210282 DOI: 10.1002/Ajmg.10512 |
0.375 |
|
| 2002 |
Speer MC, Melvin EC, Viles KD, Bauer KA, Rampersaud E, Drake C, George TM, Enterline DS, Mackey JF, Worley G, Gilbert JR, Nye JS. T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. American Journal of Medical Genetics. 110: 215-8. PMID 12116228 DOI: 10.1002/Ajmg.10436 |
0.675 |
|
| 2002 |
Thomas AQ, Lane K, Phillips J, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, Roberts R, Haines J, Stahlman M, Loyd JE. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. American Journal of Respiratory and Critical Care Medicine. 165: 1322-8. PMID 11991887 DOI: 10.1164/Rccm.200112-123Oc |
0.332 |
|
| 2001 |
Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC. Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. Journal of Clinical Neuromuscular Disease. 3: 1-7. PMID 19078645 DOI: 10.1097/00131402-200109000-00001 |
0.623 |
|
| 2001 |
Calvert JT, Burns S, Riney TJ, Sahoo T, Orlow SJ, Nevin NC, Haisley-Royster C, Prose N, Simpson SA, Speer MC, Marchuk DA. Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. Human Heredity. 51: 180-2. PMID 11173970 DOI: 10.1159/000053340 |
0.438 |
|
| 2001 |
Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, Van Der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC. Clinical studies in non-chromosome 4-linked facioscapulohumeral muscular dystrophy Journal of Clinical Neuromuscular Disease. 3: 1-7. |
0.637 |
|
| 2000 |
Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH. A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurgical Focus. 8: E12. PMID 16676924 DOI: 10.3171/Foc.2000.8.3.12 |
0.363 |
|
| 2000 |
White KE, Evans WE, O'Riordan JLH, Speer MC, Econs MJ, Lorenz-Depiereux B, Grabowski M, Meitinger T, Strom TM. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 Nature Genetics. 26: 345-348. PMID 11062477 DOI: 10.1038/81664 |
0.354 |
|
| 2000 |
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, ... ... Speer MC, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Human Molecular Genetics. 9: 2141-7. PMID 10958653 DOI: 10.1093/Hmg/9.14.2141 |
0.337 |
|
| 2000 |
Nance MA, Nuttall FQ, Econs MJ, Lyles KW, Viles KD, Vance JM, Pericak-Vance MA, Speer MC. Heterogeneity in Paget disease of the bone American Journal of Medical Genetics. 92: 303-307. PMID 10861657 DOI: 10.1002/1096-8628(20000619)92:5<303::Aid-Ajmg2>3.0.Co;2-E |
0.325 |
|
| 2000 |
Melvin EC, George TM, Worley G, Franklin A, Mackey J, Viles K, Shah N, Drake CR, Enterline DS, McLone D, Nye J, Oakes WJ, McLaughlin C, Walker ML, Peterson P, ... ... Speer MC, et al. Genetic studies in neural tube defects. NTD Collaborative Group. Pediatric Neurosurgery. 32: 1-9. PMID 10765131 DOI: 10.1159/000028889 |
0.43 |
|
| 2000 |
George TM, Speer MC. Genetic and embryological approaches to studies of neural tube defects: a critical review. NTD Collaborative Group. Neurological Research. 22: 117-22. PMID 10672589 DOI: 10.1080/01616412.2000.11741046 |
0.356 |
|
| 2000 |
Nye JS, Hayes EA, Amendola M, Vaughn D, Charrow J, McLone DG, Speer MC, Nance WE, Pandya A. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies Teratology. 61: 165-171. PMID 10661905 DOI: 10.1002/(Sici)1096-9926(200003)61:3<165::Aid-Tera3>3.0.Co;2-E |
0.346 |
|
| 1999 |
Anderson JL, Hauser ER, Martin ER, Scott WK, Ashley-Koch A, Kim KJ, Monks SA, Haynes CS, Speer MC, Pericak-Vance MA. Complete genomic screen for disease susceptibility loci in nuclear families. Genetic Epidemiology. 17: S473-8. PMID 10597478 DOI: 10.1002/Gepi.1370170776 |
0.43 |
|
| 1999 |
Conlon PJ, Lynn K, Winn MP, Quarles LD, Bembe ML, Pericak-Vance M, Speer M, Howell DN. Spectrum of disease in familial focal and segmental glomerulosclerosis. Kidney International. 56: 1863-71. PMID 10571795 DOI: 10.1046/J.1523-1755.1999.00727.X |
0.322 |
|
| 1999 |
Speer MC, Nye J, McLone D, Worley G, Melvin EC, Viles KD, Franklin A, Drake C, Mackey J, George TM, Enterline DS, Fuchs HE, Fitch RD, Vance JM, Pericak-Vance MA, et al. Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects Clinical Genetics. 56: 142-144. PMID 10517251 DOI: 10.1034/J.1399-0004.1999.560208.X |
0.357 |
|
| 1999 |
Calvert JT, Riney TJ, Kontos CD, Cha EH, Prieto VG, Shea CR, Berg JN, Nevin NC, Simpson SA, Pasyk KA, Speer MC, Peters KG, Marchuk DA. Allelic and locus heterogeneity in inherited venous malformations. Human Molecular Genetics. 8: 1279-89. PMID 10369874 DOI: 10.1093/Hmg/8.7.1279 |
0.38 |
|
| 1999 |
Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC. Chiari I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients Neurosurgery. 44: 1005-1017. PMID 10232534 DOI: 10.1097/00006123-199905000-00042 |
0.315 |
|
| 1999 |
Horrigan SK, Bartoloni L, Speer MC, Fulton N, Kravarusic J, Ramesar R, Vance JM, Yamaoka LH, Westbrook CA. A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. Genomics. 57: 24-35. PMID 10191080 DOI: 10.1006/Geno.1999.5765 |
0.334 |
|
| 1999 |
Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA. Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. American Journal of Human Genetics. 64: 556-62. PMID 9973293 DOI: 10.1086/302252 |
0.415 |
|
| 1999 |
Walter JW, Blei F, Anderson JL, Orlow SJ, Speer MC, Marchuk DA. Genetic mapping of a novel familial form of infantile hemangioma American Journal of Medical Genetics. 82: 77-83. PMID 9916848 DOI: 10.1002/(Sici)1096-8628(19990101)82:1<77::Aid-Ajmg15>3.0.Co;2-A |
0.431 |
|
| 1998 |
Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance JM, Yamaoka LH, Pericak-Vance MA, Westbrook CA, Speer MC. Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. Genomics. 54: 250-5. PMID 9828127 DOI: 10.1006/Geno.1998.5579 |
0.429 |
|
| 1998 |
Econs MJ, Friedman NE, Rowe PSN, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H. 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 Journal of Clinical Endocrinology and Metabolism. 83: 3459-3462. PMID 9768646 DOI: 10.1210/Jcem.83.10.5167 |
0.3 |
|
| 1998 |
Pan TC, Zhang RZ, Speer MC, Chu ML. CA repeat polymorphism of the COL6A3 gene on chromosome 2q37. Human Heredity. 48: 235-6. PMID 9694257 DOI: 10.1159/000022808 |
0.383 |
|
| 1998 |
Speer MC, Vance JM, Lennon-Graham F, Stajich JM, Viles KD, Gilchrist JM, Nigro V, McMichael R, Chutkow JG, Bartoloni L, Horrigan SK, Westbrook CA, Pericak-Vance MA. Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. Human Heredity. 48: 179-84. PMID 9694248 DOI: 10.1159/000022799 |
0.421 |
|
| 1998 |
Stumpo DJ, Eddy RL, Haley LL, Sait S, Shows TB, Lai WS, Young WS, Speer MC, Dehejia A, Polymeropoulos M, Blackshear PJ. 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. Genomics. 49: 253-64. PMID 9598313 DOI: 10.1006/Geno.1998.5247 |
0.453 |
|
| 1998 |
Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Human Molecular Genetics. 7: 807-12. PMID 9536084 DOI: 10.1093/Hmg/7.5.807 |
0.392 |
|
| 1998 |
Damji KF, Gallione CJ, Allingham RR, Slotterbeck B, Guttmacher AE, Pasyk KA, Vance JM, Pericak-Vance MA, Speer MC, Marchuk DA. Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease Human Genetics. 102: 207-212. PMID 9521591 DOI: 10.1007/S004390050679 |
0.404 |
|
| 1997 |
Speer MC, Pericak-Vance MA, Stajich JM, Sarrica J, Jordan M, Roses AD, Vance JM, Gilbert JR. Further exclusion of FSHD1B from the telomeric region of 10q. Neurogenetics. 1: 151-2. PMID 10732819 DOI: 10.1007/S100480050023 |
0.398 |
|
| 1997 |
Speer MC, Worley G, Mackey JF, Melvin E, Oakes WJ, George TM. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. Neurogenetics. 1: 149-50. PMID 10732818 DOI: 10.1007/S100480050022 |
0.367 |
|
| 1997 |
Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM. Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics. 1: 89-93. PMID 10732809 DOI: 10.1007/S100480050013 |
0.422 |
|
| 1997 |
Scott WK, Speer MC, Leal SM, Brzustowicz LM, Haynes CS, Pericak-Vance MA. False positive rates in a genomic screen for complex quantitative traits. Genetic Epidemiology. 14: 891-6. PMID 9433596 DOI: 10.1002/(Sici)1098-2272(1997)14:6<891::Aid-Gepi55>3.0.Co;2-H |
0.368 |
|
| 1997 |
MacCluer JW, Blangero J, Dyer TD, Speer MC. GAW10: Simulated family data for a common oligogenic disease with quantitative risk factors Genetic Epidemiology. 14: 737-742. PMID 9433570 DOI: 10.1002/(Sici)1098-2272(1997)14:6<737::Aid-Gepi29>3.0.Co;2-Q |
0.36 |
|
| 1997 |
Econs MJ, McEnery PT, Lennon F, Speer MC. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13 Journal of Clinical Investigation. 100: 2653-2657. PMID 9389727 DOI: 10.1172/Jci119809 |
0.399 |
|
| 1997 |
Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23 American Journal of Human Genetics. 61: 909-917. PMID 9382102 DOI: 10.1086/514896 |
0.417 |
|
| 1996 |
Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, et al. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Human Molecular Genetics. 5: 1043-6. PMID 8817344 DOI: 10.1093/Hmg/5.7.1043 |
0.385 |
|
| 1996 |
Jobsis GJ, Keizers H, Vreijling JP, De Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures Nature Genetics. 14: 113-115. PMID 8782832 DOI: 10.1038/Ng0996-113 |
0.387 |
|
| 1996 |
Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nature Genetics. 13: 189-95. PMID 8640225 DOI: 10.1038/Ng0696-189 |
0.414 |
|
| 1995 |
Gilbert JR, Speer MC, Stajich J, Clancy R, Lewis K, Qiu H, Yamaoka L, Kumar A, Vance J, Stewart C. Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B. Journal of Medical Genetics. 32: 770-3. PMID 8558552 DOI: 10.1136/Jmg.32.10.770 |
0.395 |
|
| 1995 |
Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. American Journal of Human Genetics. 57: 1371-6. PMID 8533766 |
0.304 |
|
| 1995 |
Speer MC, Kingston HM, Boustany RM, Gaskell PC, Robinson LC, Lennon F, Wolpert CM, Yamaoka LH, Kahler SG, Hogan EL. Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia. American Journal of Medical Genetics. 60: 307-11. PMID 7485266 DOI: 10.1002/Ajmg.1320600409 |
0.404 |
|
| 1994 |
Econs MJ, Francis F, Rowe PSN, Speer MC, O'riordan JLH, Lehrach H, Becker PA. Dinucleotide repeat polymorphism at the DXS1683 locus Human Molecular Genetics. 3: 680. PMID 8069326 DOI: 10.1093/Hmg/3.4.680 |
0.362 |
|
| 1994 |
Chatkupt S, Speer MC, Ding Y, Thomas M, Stenroos ES, Dermody JJ, Koenigsberger MR, Ott J, Johnson WG. Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele. American Journal of Medical Genetics. 52: 1-4. PMID 7977450 DOI: 10.1002/Ajmg.1320520102 |
0.305 |
|
| 1994 |
Econs MJ, Rowe PS, Francis F, Barker DF, Speer MC, Norman M, Fain PR, Weissenbach J, Read A, Davis KE. Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus. The Journal of Clinical Endocrinology and Metabolism. 79: 1351-4. PMID 7962329 DOI: 10.1210/Jcem.79.5.7962329 |
0.371 |
|
| 1994 |
Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nature Genetics. 7: 425-8. PMID 7920663 DOI: 10.1038/Ng0794-425 |
0.388 |
|
| 1994 |
Westbrook CA, Le Beau MM, Neuman WL, Keinanen M, Yamaoka LH, Speer MC, Espinosa R, Nakamura Y, Williamson R, Mullan M. Physical and genetic map of 5q31: use of fluorescence in situ hybridization data to identify errors in the CEPH database. Centre d'Etude de Polymorphisme Humain. Cytogenetics and Cell Genetics. 67: 86-93. PMID 7913678 DOI: 10.1159/000133805 |
0.361 |
|
| 1994 |
Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromuscular Disorders : Nmd. 4: 471-5. PMID 7881291 DOI: 10.1016/0960-8966(94)90086-8 |
0.373 |
|
| 1993 |
Petrukhin KE, Speer MC, Cayanis E, Bonaldo MdF, Tantravahi U, Soares MB, Fischer SG, Warburton D, Gilliam TC, Ott J. A Microsatellite Genetic Linkage Map of Human Chromosome 13 Genomics. 15: 76-85. PMID 8432553 DOI: 10.1006/Geno.1993.1012 |
0.367 |
|
| 1993 |
Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss C, Cadle R, Hall B, Brown K. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics. 18: 7-13. PMID 8276417 DOI: 10.1006/Geno.1993.1420 |
0.394 |
|
| 1993 |
Econs MJ, Fain PR, Norman M, Speer MC, Pericak-Vance MA, Becker PA, Barker DF, Taylor A, Drezner MK. Flanking markers define the X-linked hypophosphatemic rickets gene locus. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 8: 1149-52. PMID 8237485 DOI: 10.1002/Jbmr.5650080916 |
0.404 |
|
| 1992 |
Speer MC, Haynes CS, Pericak-Vance MA. Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. Cytogenetics and Cell Genetics. 59: 225-7. PMID 1737509 DOI: 10.1159/000133254 |
0.31 |
|
| 1992 |
Gilbert JR, Stajich JM, Speer MC, Vance JM, Stewart CS, Yamaoka LH, Samson F, Fardeau M, Potter TG, Roses AD. Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). American Journal of Human Genetics. 51: 424-7. PMID 1642241 |
0.305 |
|
| 1992 |
Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. American Journal of Human Genetics. 50: 1211-7. PMID 1598902 |
0.314 |
|
| 1992 |
Samson F, de Jong PJ, Trask BJ, Koza-Taylor P, Speer MC, Potter T, Roses AD, Gilbert JR. Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis. Genomics. 13: 1374-5. PMID 1505979 DOI: 10.1016/0888-7543(92)90077-6 |
0.315 |
|
| 1992 |
Econs MJ, Barker DF, Speer MC, Pericak-Vance MA, Fain PR, Drezner MK. Multilocus mapping of the X-linked hypophosphatemic rickets gene. The Journal of Clinical Endocrinology and Metabolism. 75: 201-6. PMID 1352307 DOI: 10.1210/Jcem.75.1.1352307 |
0.397 |
|
| 1991 |
Kandt RS, Pericak-Vance MA, Hung WY, Gardner RJ, Crossen PE, Nellist MD, Speer MC, Roses AD. Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! Annals of the New York Academy of Sciences. 615: 284-97. PMID 2039152 DOI: 10.1111/J.1749-6632.1991.Tb37770.X |
0.409 |
|
| 1991 |
Samson F, Gilbert JR, Koza-Taylor P, Speer MC, Lee J, Roses AD. A PstI polymorphism detected by a genomic clone at the human slow troponin T (TNNT1) gene locus. Nucleic Acids Research. 19: 6058. PMID 1682896 DOI: 10.1093/Nar/19.21.6058 |
0.342 |
|
| 1991 |
Speer MC, Goldgaber D, Goldfarb LG, Roses AD, Pericak-Vance MA. Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter Genomics. 9: 366-368. PMID 1672296 DOI: 10.1016/0888-7543(91)90266-H |
0.413 |
|
| 1990 |
Speer MC, Pericak-Vance MA, Yamaoka L, Hung WY, Ashley A, Stajich JM, Roses AD. Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies Neurology. 40: 671-676. PMID 2320244 DOI: 10.1212/Wnl.40.4.671 |
0.371 |
|
| 1990 |
Yamaoka LH, Pericak-Vance MA, Speer MC, Gaskell PC, Stajich J, Haynes C, Hung WY, Laberge C, Thibault MC, Mathieu J, Walker AP, Bartlett RJ, Roses AD. Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19 Neurology. 40: 222-226. PMID 2300239 DOI: 10.1212/Wnl.40.2.222 |
0.389 |
|
| 1990 |
Econs MJ, Pericak-Vance MA, Betz H, Bartlett RJ, Speer MC, Drezner MK. The human glycine receptor: A new probe that is linked to the X-linked hypophosphatemic rickets gene Genomics. 7: 439-441. PMID 2163973 DOI: 10.1016/0888-7543(90)90180-3 |
0.341 |
|
| 1989 |
McConkie-Rosell A, Chen YT, Harris D, Speer MC, Pericak-Vance MA, Ding JH, Highsmith WE, Knowles M, Kahler SG. Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype Annals of Internal Medicine. 111: 797-801. PMID 2817627 DOI: 10.7326/0003-4819-111-10-797 |
0.416 |
|
| 1989 |
Siddique T, Pericak-Vance MA, Brooks BR, Roos RP, Hung WY, Antel JP, Munsat TL, Phillips K, Warner K, Speer M. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology. 39: 919-25. PMID 2739919 DOI: 10.1212/Wnl.39.7.919 |
0.4 |
|
| 1989 |
Kandt RS, Pericak-Vance MA, Hung WY, Gardner RJ, Nellist M, Phillips K, Warner K, Speer MC, Crossen PE, Laing NG. Absence of linkage of ABO blood group locus to familial tuberous sclerosis. Experimental Neurology. 104: 223-8. PMID 2721625 DOI: 10.1016/0014-4886(89)90033-2 |
0.412 |
|
| 1989 |
Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17 Experimental Neurology. 104: 186-189. PMID 2707366 DOI: 10.1016/S0014-4886(89)80013-5 |
0.364 |
|
| 1988 |
Bartlett RJ, Pericak-Vance MA, Koh J, Yamaoka LH, Chen JC, Hung WY, Speer MC, Wapenaar MC, Van Ommen GJB, Bakker E, Pearson PL, Kandt RS, Siddique T, Gilbert JR, Lee JE, et al. Duchenne muscular dystrophy: High frequency of deletions Neurology. 38: 1-4. PMID 3275902 DOI: 10.1212/Wnl.38.1.1 |
0.389 |
|
| 1988 |
Speer MC, Pericak-Vance MA, Yamaoka LH, Koh J, Wu-Yen Hung, Gaskell PC, Vance JM, Bartlett RJ, Roses AD. Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy Prenatal Diagnosis. 8: 427-437. PMID 3211845 DOI: 10.1002/Pd.1970080607 |
0.332 |
|
| 1988 |
Pericak-Vance MA, Yamaoka LH, Haynes CS, Speer MC, Haines JL, Gaskell PC, Hung WY, Clark CM, Heyman AL, Trofatter JA. Genetic linkage studies in Alzheimer's disease families. Experimental Neurology. 102: 271-9. PMID 3197787 DOI: 10.1016/0014-4886(88)90220-8 |
0.343 |
|
| 1987 |
Pericak-Vance MA, Yamaoka LH, Vance JM, Small K, Rosenwasser GO, Gaskell PC, Hung WY, Alberts MJ, Haynes CS, Speer MC. Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). Genomics. 1: 349-52. PMID 3130305 DOI: 10.1016/0888-7543(87)90036-X |
0.385 |
|
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