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Marcy Speer

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Deidre R Krupp; Marcy C Speer; Sophie Thomas; Michel Vekemans; Pu-Ting Xu; Allison E Ashley-Koch; Andrew Dellinger; Heather C Etchevers; John Gilbert; Simon G Gregory
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Christina A Markunas; Roham Moftakhar; W Jerry Oakes; Marcy C Speer; R Shane Tubbs; Allison E Ashley-Koch; Simon G Gregory; Bermans J Iskandar
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.
Max A Seibold; Anastasia L Wise; Marcy C Speer; Mark P Steele; Kevin K Brown; James E Loyd; Tasha E Fingerlin; Weiming Zhang; Gunnar Gudmundsson; Steve D Groshong; Christopher M Evans; Stavros Garantziotis; Kenneth B Adler; Burton F Dickey; Roland M du Bois; Ivana V Yang; Aretha Herron; Dolly Kervitsky; Janet L Talbert; Cheryl Markin; Joungjoa Park; Anne L Crews; Susan H Slifer; Scott Auerbach; Michelle G Roy; Jia Lin; Corinne E Hennessy; Marvin I Schwarz; David A Schwartz
A common MUC5B promoter polymorphism and pulmonary fibrosis.

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2012: Deidre R Krupp; Marcy C Speer; Sophie Thomas; Michel Vekemans; Pu-Ting Xu; Allison E Ashley-Koch; Andrew Dellinger; Heather C Etchevers; John Gilbert; Simon G Gregory
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;94(9):683-92.
2012: Christina A Markunas; Roham Moftakhar; W Jerry Oakes; Marcy C Speer; R Shane Tubbs; Allison E Ashley-Koch; Simon G Gregory; Bermans J Iskandar
Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.
Journal of neurosurgery. Pediatrics 2012;9(4):372-8.
2011: Max A Seibold; Anastasia L Wise; Marcy C Speer; Mark P Steele; Kevin K Brown; James E Loyd; Tasha E Fingerlin; Weiming Zhang; Gunnar Gudmundsson; Steve D Groshong; Christopher M Evans; Stavros Garantziotis; Kenneth B Adler; Burton F Dickey; Roland M du Bois; Ivana V Yang; Aretha Herron; Dolly Kervitsky; Janet L Talbert; Cheryl Markin; Joungjoa Park; Anne L Crews; Susan H Slifer; Scott Auerbach; Michelle G Roy; Jia Lin; Corinne E Hennessy; Marvin I Schwarz; David A Schwartz
A common MUC5B promoter polymorphism and pulmonary fibrosis.
The New England journal of medicine 2011;364(16):1503-12.
2009: Martha E Payne; Brenda D Jamerson; Christopher F Potocky; Allison E Ashley-Koch; Marcy C Speer; David C Steffens
Natural food folate and late-life depression.
Journal of nutrition for the elderly 2009;28(4):348-58.
2008: Demetra S Stamm; CM Powell; Jeffrey M Stajich; Victoria L Zismann; Dietrich A Stephan; B Chesnut; Arthur S Aylsworth; Stephen Kahler; Kristen L Deak; John Gilbert; Marcy C Speer
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.
Neurology 2008;71(22):1764-9.
2008: Sophie Thomas; Marie Thomas; Patrick Wincker; Candice Babarit; Puting Xu; Marcy C Speer; Arnold Munnich; Stanislas LYONNET; Michel Vekemans; Heather C Etchevers
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
Human molecular genetics 2008;17(21):3411-25.
2008: Kristen L Deak; Deborah G Siegel; Timothy M George; Simon Gregory; Allison Ashley-Koch; Marcy C Speer
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;82(10):662-9.
2008: Demetra S Stamm; Arthur S Aylsworth; Jeffrey M Stajich; Stephen Kahler; Leigh B Thorne; Marcy C Speer; CM Powell
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
American journal of medical genetics. Part A 2008;146A(14):1832-41.
2008: Demetra S Stamm; Deborah G Siegel; Lorraine Mehltretter; Jessica J Connelly; Alison Trott; Nathen Ellis; Victoria L Zismann; Dietrich A Stephan; Timothy M George; Michel Vekemans; Allison Ashley-Koch; John Gilbert; Simon G Gregory; Marcy C Speer
Refinement of 2q and 7p loci in a large multiplex NTD family.
Birth defects research. Part A, Clinical and molecular teratology 2008;82(6):441-52.
2008: Warren D Taylor; Stephan Zuchner; Douglas R McQuoid; Martha E Payne; James R MacFall; David C Steffens; Marcy C Speer; K Ranga Rama Krishnan
The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression.
The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2008;16(4):263-71.
2007: Olga Torres; Edwin Palencia; Ligia Lopez de Pratdesaba; Ruben Grajeda; Mario Fuentes; Marcy C Speer; Alfred H Merrill; Kerry O'Donnell; Charles W Bacon; Anthony E Glenn; Ronald T Riley
Estimated fumonisin exposure in Guatemala is greatest in consumers of lowland maize.
The Journal of nutrition 2007;137(12):2723-9.
2007: Warren D Taylor; Stephan Zuchner; Douglas R McQuoid; David C Steffens; Marcy C Speer; K Ranga Rama Krishnan
Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression.
The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2007;15(10):850-7.
2007: Douglas G Kondo; Marcy C Speer; K Ranga Rama Krishnan; Douglas R McQuoid; Susan H Slifer; Carl F Pieper; Ashley V Billups; David C Steffens
Association of AGTR1 with 18-month treatment outcome in late-life depression.
The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2007;15(7):564-72.
2007: Stephan Zuchner; Sushma T Roberts; Marcy C Speer; Jean C Beckham
Update on psychiatric genetics.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(6):332-40.
2007: Gwen O'Grady; Abee L Boyles; Marcy C Speer; Frank DeRuyter; Warren J Strittmatter; Gordon Worley
Apolipoprotein E alleles and sensorineural hearing loss.
International journal of audiology 2007;46(4):183-6.
2007: Kristen L Deak; Richard Lemmers; Jeffrey M Stajich; R Klooster; R Tawil; Rune R Frants; Marcy C Speer; Silvère M van der Maarel; John Gilbert
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Neurology 2007;68(8):578-82.
2007: Evadnie Rampersaud; Richard Morris; C R Weinberg; Marcy C Speer; Eden R Martin
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 2007;31(1):18-30.
2007: Ivana V Yang; Lauranell H Burch; Mark P Steele; Jordan D Savov; John W Hollingsworth; Erin McElvania-Tekippe; Katherine G Berman; Marcy C Speer; Thomas A Sporn; Kevin K Brown; Marvin I Schwarz; David A Schwartz
Gene expression profiling of familial and sporadic interstitial pneumonia.
American journal of respiratory and critical care medicine 2007;175(1):45-54.
2006: Abee L Boyles; David S Enterline; Preston Hammock; Deborah G Siegel; Susan H Slifer; Lorraine Mehltretter; John Gilbert; Diane Hu-Lince; Dietrich A Stephan; Ulrich Batzdorf; Edward C Benzel; Richard Ellenbogen; Barth A Green; Roger Kula; Arnold Menezes; Diane Mueller; John J Oro'; Bermans J Iskandar; Timothy M George; Thomas H Milhorat; Marcy C Speer
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 2006;140(24):2776-85.
2006: Abee L Boyles; Ashley V Billups; Kristen L Deak; Deborah G Siegel; Lorraine Mehltretter; Susan H Slifer; Alexander G Bassuk; John A Kessler; Michael C Reed; H Frederik Nijhout; Timothy M George; David S Enterline; John Gilbert; Marcy C Speer
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Environmental health perspectives 2006;114(10):1547-52.
2006: Demetra S Stamm; Evadnie Rampersaud; Susan H Slifer; Lorraine Mehltretter; Deborah G Siegel; Jianzhen Xie; Diane Hu-Lince; David Craig; Dietrich A Stephan; Timothy M George; John Gilbert; Marcy C Speer
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 2006;76(6):499-505.
2006: C Michael Cotten; Geoffrey S Ginsburg; Ronald N Goldberg; Marcy C Speer
Genomic analyses: a neonatology perspective.
The Journal of pediatrics 2006;148(6):720-6.
2006: Jonathan J. Halford; Gandis Mazeika; Susan H Slifer; Marcy C Speer; Ann M Saunders; Warren J Strittmatter; Joel C Morgenlander
APOE2 allele increased in tardive dyskinesia.
Movement disorders : official journal of the Movement Disorder Society 2006;21(4):540-2.
2006: Sreekumar Pillai; Mathias N Chiano; Nicola J White; Marcy C Speer; Kathleen C Barnes; Karin Carlsen; Jorrit Gerritsen; Peter J Helms; Warren Lenney; Michael Silverman; Peter Sly; John Sundy; John Tsanakas; Andrea Von Berg; Moira Whyte; Shela Varsani; Paul Skelding; Michael Hauser; Jeffery Vance; Margaret Pericak-Vance; Daniel K Burns; Lefkos T Middleton; Shyama R Brewster; Wayne H Anderson; John H Riley
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 2006;14(3):307-16.
2006: Marcy C Speer
Use of LINKAGE programs for linkage analysis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2006;Chapter 1():Unit 1.7.
2005: Evadnie Rampersaud; William Scott; Elizabeth R Hauser; Marcy C Speer
Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs.
Journal of medical genetics 2005;42(12):e68.
2005: Kristen L Deak; Margaret E Dickerson; Elwood Linney; David S Enterline; Timothy M George; Elizabeth C Melvin; Felicia L Graham; Deborah G Siegel; Preston Hammock; Lorraine Mehltretter; Alexander G Bassuk; John A Kessler; John Gilbert; Marcy C Speer
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 2005;73(11):868-75.
2005: Mark P Steele; Marcy C Speer; James E Loyd; Kevin K Brown; Aretha Herron; Susan H Slifer; Lauranell H Burch; Momen M Wahidi; John A Phillips; Thomas A Sporn; H Page McAdams; Marvin I Schwarz; David A Schwartz
Clinical and pathologic features of familial interstitial pneumonia.
American journal of respiratory and critical care medicine 2005;172(9):1146-52.
2005: Kristen L Deak; Abee L Boyles; Heather C Etchevers; Elizabeth C Melvin; Deborah G Siegel; Felicia L Graham; Susan H Slifer; David S Enterline; Timothy M George; Michel Vekemans; David R McClay; Alexander G Bassuk; John A Kessler; Elwood Linney; John Gilbert; Marcy C Speer
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Human genetics 2005;117(2-3):133-42.
2005: Abee L Boyles; Preston Hammock; Marcy C Speer
Candidate gene analysis in human neural tube defects.
American journal of medical genetics. Part C, Seminars in medical genetics 2005;135C(1):9-23.
2005: Eric R Detrait; Timothy M George; Heather C Etchevers; John Gilbert; Michel Vekemans; Marcy C Speer
Human neural tube defects: developmental biology, epidemiology, and genetics.
Neurotoxicology and teratology 2005;27(3):515-24.
2005: Chantelle M Wolpert; Marcy C Speer
Harnessing the power of the pedigree.
Journal of midwifery & women's health 2005;50(3):189-96.
2005: Chantelle M Wolpert; Margaret L Singer; Marcy C Speer
Speaking the language of genetics: a primer.
Journal of midwifery & women's health 2005;50(3):184-8.
2005: K L Bastress; Jeffrey M Stajich; Marcy C Speer; John Gilbert
The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B.
Neuromuscular disorders : NMD 2005;15(4):316-20.
2005: Stephan Zuchner; Maher A Noureddine; Marina L Kennerson; Kristien Verhoeven; Kristl G Claeys; Peter De Jonghe; John Merory; Sofia A Oliveira; Marcy C Speer; Judith E Stenger; Gina Walizada; Danqing Zhu; Margaret Pericak-Vance; Garth Nicholson; Vincent Timmerman; Jeffery Vance
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Nature genetics 2005;37(3):289-94.
2005: Abee L Boyles; William Scott; Eden R Martin; Silke Schmidt; Yi-Ju Li; Allison Ashley-Koch; Meredyth P Bass; Mike Schmidt; Margaret Pericak-Vance; Marcy C Speer; Elizabeth R Hauser
Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.
Human heredity 2005;59(4):220-7.
2005: Courtney Drake Sebold; Elizabeth C Melvin; Deborah Siegel; Lorraine Mehltretter; David S Enterline; Jeffrey S Nye; John Kessler; Alexander G Bassuk; Marcy C Speer; Timothy M George
Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(1):64-7.
2004: Lisa P Benz; Frances E Swift; Felicia L Graham; David S Enterline; Elizabeth C Melvin; Preston Hammock; John Gilbert; Marcy C Speer; Alexander G Bassuk; John A Kessler; Timothy M George
TERC is not a major gene in human neural tube defects.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(8):531-3.
2004: Evadnie Rampersaud; C Brusato; Elizabeth C Melvin; Marcy C Speer; K Metcalf
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 2004;6(1):69-70.
2003: Helga V Toriello; Marcy C Speer
Proceedings of the Second International Conference on Neural Tube Defects.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(5):400-6.
2003: Evadnie Rampersaud; Elizabeth C Melvin; Deborah Siegel; Lorraine Mehltretter; M E Dickerson; Timothy M George; David S Enterline; Jeffrey S Nye; Marcy C Speer
Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.
Clinical genetics 2003;63(3):210-4.
2003: Donald N Cook; Shuibang Wang; Gabriel P Howles; Marcy C Speer; Gary Churchhill; John Quackenbush; David A Schwartz
The genetics of innate immunity in the lung.
Chest 2003;123(3 Suppl):369S.
2002: Michael A Hauser; Cecilia B Conde; Valeria Kowaljow; Guillermo Zeppa; Ana L Taratuto; Udana M Torian; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer; Alberto L Rosa
myotilin Mutation found in second pedigree with LGMD1A.
American journal of human genetics 2002;71(6):1428-32.
2002: Marcy C Speer; Felicia L Graham; Erin Bonner; Keva Collier; Jeffrey M Stajich; Perry C Gaskell; Margaret Pericak-Vance; Jeffery Vance
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.
Neurogenetics 2002;4(2):83-5.
2002: Eileen P Ahearn; Marcy C Speer; Y T Chen; David C Steffens; Frederick Cassidy; Susan van Meter; James M Provenzale; Richard H Weisler; K Ranga Rama Krishnan
Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.
American journal of medical genetics 2002;114(6):652-8.
2002: Marcy C Speer; Elizabeth C Melvin; Kristi D Viles; Kim A Bauer; Evadnie Rampersaud; Courtney Drake; Timothy M George; David S Enterline; Joanne F Mackey; Gordon Worley; John Gilbert; Jeffrey S Nye
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
American journal of medical genetics 2002;110(3):215-8.
2002: Momen M Wahidi; Marcy C Speer; Mark P Steele; Kevin K Brown; Marvin I Schwarz; David A Schwartz
Familial pulmonary fibrosis in the United States.
Chest 2002;121(3 Suppl):30S.
2002: Kim A Bauer; Timothy M George; David S Enterline; Rolf W Stottmann; Elizabeth C Melvin; Deborah Siegel; Surekha Samal; Michael A Hauser; John Klingensmith; Jeffrey S Nye; Marcy C Speer
A novel mutation in the gene encoding noggin is not causative in human neural tube defects.
Journal of neurogenetics 2002;16(1):65-71.
2001: RW Tim; Silvère M van der Maarel; Kristi D Viles; Jeffrey M Stajich; R Tawil; E H Bossen; Rune R Frants; A H Friedman; John Gilbert; George W Padberg; Margaret Pericak-Vance; Evadnie Rampersaud; Marcy C Speer
Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.
Journal of clinical neuromuscular disease 2001;3(1):1-7.
2001: Silke Schmidt; Y Shao; Elizabeth R Hauser; Susan H Slifer; Eden R Martin; William Scott; Marcy C Speer; Margaret Pericak-Vance
Life after the screen: making sense of many P-values.
Genetic epidemiology 2001;21 Suppl 1():S546-51.
2001: J T Calvert; S Burns; TJ Riney; T Sahoo; S J Orlow; N C Nevin; Camille Haisley-Royster; Neil S Prose; S A Simpson; Marcy C Speer; Douglas A Marchuk
Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity.
Human heredity 2001;51(3):180-2.
2000: Michael A Hauser; stephen horrigan; Paula Salmikangas; U M Torian; Kristi D Viles; R Dancel; RW Tim; Anu Taivainen; L Bartoloni; JM Gilchrist; Jeffrey M Stajich; Perry C Gaskell; John Gilbert; Jeffery Vance; Margaret Pericak-Vance; Olli Carpen; Carol A Westbrook; Marcy C Speer
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Human molecular genetics 2000;9(14):2141-7.
2000: Martha A Nance; F Q Nuttall; Michael J Econs; K W Lyles; Kristi D Viles; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer
Heterogeneity in Paget disease of the bone.
American journal of medical genetics 2000;92(5):303-7.
2000: T Sasaki; Erhard Hohenester; Rui-Zhu Zhang; S Gotta; Marcy C Speer; Rup Tandan; Rupert Timpl; Mon-Li Chu
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2000;14(5):761-8.
2000: Jeffrey S Nye; E A Hayes; M Amendola; D Vaughn; J Charrow; David G McLone; Marcy C Speer; Walter E Nance; A Pandya
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.
Teratology 2000;61(3):165-71.
2000: Marcy C Speer; Timothy M George; David S Enterline; A Franklin; Chantelle M Wolpert; Thomas H Milhorat
A genetic hypothesis for Chiari I malformation with or without syringomyelia.
Neurosurgical focus 2000;8(3):E12.
2000: Elizabeth C Melvin; Timothy M George; Gordon Worley; A Franklin; Joanne Mackey; Kristi D Viles; N Shah; C R Drake; David S Enterline; D McLone; Jeffrey S Nye; W J Oakes; Colleen McLaughlin; M L Walker; P Peterson; Timothy J Brei; C Buran; J Aben; B Ohm; I Bermans; Mazin B Qumsiyeh; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer
Genetic studies in neural tube defects. NTD Collaborative Group.
Pediatric neurosurgery 2000;32(1):1-9.
2000: Timothy M George; Marcy C Speer
Genetic and embryological approaches to studies of neural tube defects: a critical review. NTD Collaborative Group.
Neurological research 2000;22(1):117-22.
1999: Marcy C Speer; Jeffrey S Nye; D McLone; Gordon Worley; Elizabeth C Melvin; Kristi D Viles; A Franklin; C Drake; Joanne Mackey; Timothy M George
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
Clinical genetics 1999;56(2):142-4.
1999: J T Calvert; TJ Riney; Christopher D Kontos; Eugene H Cha; V G Prieto; C R Shea; Jonathan N Berg; N C Nevin; S A Simpson; K A Pasyk; Marcy C Speer; Kevin G Peters; Douglas A Marchuk
Allelic and locus heterogeneity in inherited venous malformations.
Human molecular genetics 1999;8(7):1279-89.
1999: Thomas H Milhorat; M W Chou; E M Trinidad; R W Kula; M Mandell; C Wolpert; Marcy C Speer
Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.
Neurosurgery 1999;44(5):1005-17.
1999: stephen horrigan; L Bartoloni; Marcy C Speer; Noreen Fulton; J Kravarusic; Rajkumar Ramesar; Jeffery Vance; LH Yamaoka; Carol A Westbrook
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 1999;57(1):24-35.
1999: Marcy C Speer; Jeffery Vance; Janet Grubber; F Lennon Graham; Jeffrey M Stajich; Kristi D Viles; AR Rogala; R McMichael; J Chutkow; C Goldsmith; RW Tim; Margaret Pericak-Vance
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
American journal of human genetics 1999;64(2):556-62.
1999: JL Anderson; Elizabeth R Hauser; Eden R Martin; William Scott; Allison Ashley-Koch; K J Kim; Stephanie A Monks; CS Haynes; Marcy C Speer; Margaret Pericak-Vance
Complete genomic screen for disease susceptibility loci in nuclear families.
Genetic epidemiology 1999;17 Suppl 1():S473-8.
1999: Rizwan U Haq; Marcy C Speer; Mon-Li Chu; Rup Tandan
Respiratory muscle involvement in Bethlem myopathy.
Neurology 1999;52(1):174-6.
1999: Jeffrey W Walter; Francine Blei; JL Anderson; S J Orlow; Marcy C Speer; Douglas A Marchuk
Genetic mapping of a novel familial form of infantile hemangioma.
American journal of medical genetics 1999;82(1):77-83.
1998: L Bartoloni; stephen horrigan; Kristi D Viles; JM Gilchrist; Jeffrey M Stajich; Jeffery Vance; LH Yamaoka; Margaret Pericak-Vance; Carol A Westbrook; Marcy C Speer
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 1998;54(2):250-5.
1998: Te-Cheng Pan; Rui-Zhu Zhang; Marcy C Speer; Mon-Li Chu
CA repeat polymorphism of the COL6A3 gene on chromosome 2q37.
Human heredity 1998;48(4):235-6.
1998: Marcy C Speer; Jeffery Vance; F Lennon-Graham; Jeffrey M Stajich; Kristi D Viles; JM Gilchrist; V Nigro; R McMichael; J G Chutkow; L Bartoloni; stephen horrigan; Carol A Westbrook; Margaret Pericak-Vance
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families.
Human heredity 1998;48(4):179-84.
1998: Te-Cheng Pan; Rui-Zhu Zhang; Margaret Pericak-Vance; Rup Tandan; Timothy J Fries; Jeffrey M Stajich; Kristi D Viles; Jeffery Vance; Mon-Li Chu; Marcy C Speer
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 1998;7(5):807-12.
1998: Deborah J Stumpo; RL Eddy; LL Haley; Sheila N J Sait; TB Shows; Wi S Lai; scott young; Marcy C Speer; A Dehejia; Mihael H Polymeropoulos; Perry Blackshear
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 1998;49(2):253-64.
1998: Marcy C Speer; JM Gilchrist; Jeffrey M Stajich; Perry C Gaskell; Carol A Westbrook; stephen horrigan; L Bartoloni; LH Yamaoka; William Scott; Margaret Pericak-Vance
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
Journal of medical genetics 1998;35(4):305-8.
1998: Catherine T Falk; JM Gilchrist; Margaret Pericak-Vance; Marcy C Speer
Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.
American journal of human genetics 1998;62(4):941-9.
1998: Karim F Damji; Carol J Gallione; R Rand Allingham; BD Slotterbeck; Alan E Guttmacher; K A Pasyk; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer; Douglas A Marchuk
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
Human genetics 1998;102(2):207-12.
1997: MJ Econs; P T McEnery; F Lennon; Marcy C Speer
Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.
The Journal of clinical investigation 1997;100(11):2653-7.
1997: Marcy C Speer; Margaret Pericak-Vance; Jeffrey M Stajich; J Sarrica; M Jordan; Allen D Roses; Jeffery Vance; John Gilbert
Further exclusion of FSHD1B from the telomeric region of 10q.
Neurogenetics 1997;1(2):151-2.
1997: Marcy C Speer; Gordon Worley; Joanne F Mackey; Elizabeth C Melvin; W J Oakes; Timothy M George
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 1997;1(2):149-50.
1997: Margaret Pericak-Vance; Marcy C Speer; F Lennon; Sandra G West; Marisa M Menold; Jeffrey M Stajich; Chantelle M Wolpert; BD Slotterbeck; M Saito; RW Tim; M P Rozear; Lefkos T Middleton; S Tsuji; Jeffery Vance
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.
Neurogenetics 1997;1(2):89-93.
1997: William Scott; J M Staijich; LH Yamaoka; Marcy C Speer; Jeffery Vance; Allen D Roses; Margaret Pericak-Vance
Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group.
Science (New York, N.Y.) 1997;277(5324):387-8; author reply 389.
1997: William Scott; Marcy C Speer; S M Leal; L M Brzustowicz; CS Haynes; Margaret Pericak-Vance
False positive rates in a genomic screen for complex quantitative traits.
Genetic epidemiology 1997;14(6):891-6.
1996: Michael J Econs; Marcy C Speer
Genetic studies of complex diseases: let the reader beware.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1996;11(12):1835-40.
1996: G Joost Jöbsis; H Keizers; J P Vreijling; Marianne De Visser; Marcy C Speer; R A Wolterman; F Baas; PA Bolhuis
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
Nature genetics 1996;14(1):113-5.
1996: Marcy C Speer; Rup Tandan; P N Rao; T Fries; Jeffrey M Stajich; PA Bolhuis; G Joost Jöbsis; Jeffery Vance; Kristi D Viles; K Sheffield; C James; SG Kahler; M Pettenati; John Gilbert; P H Denton; LH Yamaoka; Margaret Pericak-Vance
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Human molecular genetics 1996;5(7):1043-6.
1996: Jeffery Vance; Marcy C Speer; Jeffrey M Stajich; Sandra G West; Chantelle M Wolpert; Perry C Gaskell; F Lennon; R M Tim; M Rozear; K B Othmane
Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.
American journal of human genetics 1996;59(1):258-62.
1995: Marcy C Speer; JM Gilchrist; J G Chutkow; R McMichael; Carol A Westbrook; Jeffrey M Stajich; E M Jorgenson; Perry C Gaskell; B L Rosi; R Ramesar
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.
American journal of human genetics 1995;57(6):1371-6.
1995: John Gilbert; Marcy C Speer; Jeffrey M Stajich; R Clancy; K Lewis; H Qiu; LH Yamaoka; A Kumar; Jeffery Vance; C Stewart
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B.
Journal of medical genetics 1995;32(10):770-3.
1995: Marcy C Speer; LH Yamaoka; Jeffrey M Stajich; K Lewis; Margaret Pericak-Vance; R Stacy; Rup Tandan; T J Fries
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A.
American journal of medical genetics 1995;58(2):197-8.
1995: Marcy C Speer; H M Kingston; Rose-Mary N Boustany; Perry C Gaskell; L C Robinson; F Lennon; Chantelle M Wolpert; LH Yamaoka; SG Kahler; Edward Leo Hogan
Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia.
American journal of medical genetics 1995;60(4):307-11.
1995: Marcy C Speer; Joseph D Terwilliger; J Ott
Data simulation for GAW9 problems 1 and 2.
Genetic epidemiology 1995;12(6):561-4.
1994: Michael J Econs; Peter S N Rowe; Fiona Francis; David Barker; Marcy C Speer; M Norman; P R Fain; J Weissenbach; A Read; K E Davis
Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus.
The Journal of clinical endocrinology and metabolism 1994;79(5):1351-4.
1994: LH Yamaoka; Carol A Westbrook; Marcy C Speer; JM Gilchrist; Ethylin Jabs; E G Schweins; Jeffrey M Stajich; Perry C Gaskell; Allen D Roses; Margaret Pericak-Vance
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.
Neuromuscular disorders : NMD 1994;4(5-6):471-5.
1994: Michael J Econs; Fiona Francis; Peter S N Rowe; Marcy C Speer; Jeffrey L H O'Riordan; Hans Lehrach; P A Becker
Dinucleotide repeat polymorphism at the DXS1683 locus.
Human molecular genetics 1994;3(4):680.
1993: Michael J Econs; P R Fain; M Norman; Marcy C Speer; Margaret Pericak-Vance; P A Becker; David Barker; A Taylor; Marc K Drezner
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 1993;8(9):1149-52.
1993: John Gilbert; Jeffrey M Stajich; S Wall; S C Carter; H Qiu; Jeffery Vance; C S Stewart; Marcy C Speer; J Pufky; LH Yamaoka
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
American journal of human genetics 1993;53(2):401-8.
1992: John Gilbert; Jeffrey M Stajich; Marcy C Speer; Jeffery Vance; C S Stewart; LH Yamaoka; F Samson; M Fardeau; T G Potter; Allen D Roses
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
American journal of human genetics 1992;51(2):424-7.
1992: F Samson; P J de Jong; B J Trask; P Koza-Taylor; Marcy C Speer; T Potter; Allen D Roses; John Gilbert
Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis.
Genomics 1992;13(4):1374-5.
1992: Michael J Econs; David Barker; Marcy C Speer; Margaret Pericak-Vance; P R Fain; Marc K Drezner
Multilocus mapping of the X-linked hypophosphatemic rickets gene.
The Journal of clinical endocrinology and metabolism 1992;75(1):201-6.
1992: Marcy C Speer; LH Yamaoka; J H Gilchrist; C P Gaskell; Jeffrey M Stajich; Jeffery Vance; A Kazantsev; A A Lastra; CS Haynes; Jacques Beckmann
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
American journal of human genetics 1992;50(6):1211-7.
1992: Marcy C Speer; C S Haynes; Margaret Pericak-Vance
Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families.
Cytogenetics and cell genetics 1992;59(2-3):225-7.
1991: S L Secore; A P Walker; Michael H Herbstreith; Teepu Siddique; A J Jeffers; T R DeShields; Marcy C Speer; Margaret Pericak-Vance; W A Golembieski; David I Smith
A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.
Nucleic acids research 1991;19(22):6349.
1991: F Samson; John Gilbert; P Koza-Taylor; Marcy C Speer; J Lee; Allen D Roses
A PstI polymorphism detected by a genomic clone at the human slow troponin T (TNNT1) gene locus.
Nucleic acids research 1991;19(21):6058.
1991: Mark J Alberts; R S Kandt; Margaret Pericak-Vance; J Bebout; Marcy C Speer; Teepu Siddique; LH Yamaoka; Wu-Yen Hung; Perry C Gaskell; Allen D Roses
MspI RFLP for microtubule associated protein-2 (MAP2).
Nucleic acids research 1991;19(4):960.
1991: Marcy C Speer; Dmitry Goldgaber; Lev G Goldfarb; Allen D Roses; Margaret Pericak-Vance
Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
Genomics 1991;9(2):366-8.
1991: R S Kandt; Margaret Pericak-Vance; Wu-Yen Hung; R J Gardner; P E Crossen; M D Nellist; Marcy C Speer; Allen D Roses
Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!
Annals of the New York Academy of Sciences 1991;615():284-97.
1990: Michael J Econs; Margaret Pericak-Vance; Heinrich Betz; R J Bartlett; Marcy C Speer; Marc K Drezner
The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.
Genomics 1990;7(3):439-41.
1990: Marcy C Speer; Margaret Pericak-Vance; LH Yamaoka; Wu-Yen Hung; A Ashley; Jeffrey M Stajich; Allen D Roses
Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.
Neurology 1990;40(4):671-6.
1990: LH Yamaoka; Margaret Pericak-Vance; Marcy C Speer; Perry C Gaskell; Jeffrey M Stajich; CS Haynes; Wu-Yen Hung; C Laberge; M C Thibault; J Mathieu
Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.
Neurology 1990;40(2):222-6.
1990: Allen D Roses; Margaret Pericak-Vance; C M Clark; John Gilbert; LH Yamaoka; CS Haynes; Marcy C Speer; Perry C Gaskell; Wu-Yen Hung; J A Trofatter
Linkage studies of late-onset familial Alzheimer's disease.
Advances in neurology 1990;51():185-96.
1989: Allyn McConkie-Rosell; Yuan-Tsong Chen; D Harris; Marcy C Speer; Margaret Pericak-Vance; Jia-huan Ding; W Edward Highsmith; Michael Knowles; SG Kahler
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
Annals of internal medicine 1989;111(10):797-801.
1989: R S Kandt; Margaret Pericak-Vance; Wu-Yen Hung; R J Gardner; M Nellist; K Phillips; K Warner; Marcy C Speer; P E Crossen; Nigel G Laing
Absence of linkage of ABO blood group locus to familial tuberous sclerosis.
Experimental neurology 1989;104(3):223-8.
1989: Jeffery Vance; G A Nicholson; LH Yamaoka; Jeffrey M Stajich; C S Stewart; Marcy C Speer; Wu-Yen Hung; Allen D Roses; D Barker; Margaret Pericak-Vance
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
Experimental neurology 1989;104(2):186-9.
1989: R J Bartlett; A P Walker; Nigel G Laing; James Koh; S L Secore; Marcy C Speer; Margaret Pericak-Vance; Wu-Yen Hung; LH Yamaoka; Teepu Siddique
Inherited deletion at Duchenne dystrophy locus in normal male.
Lancet 1989;1(8636):496-7.
1989: Marcy C Speer; Stephanie L Sherman; CS Haynes; Margaret Pericak-Vance
Mapping strategies for multiple linked markers.
Progress in clinical and biological research 1989;329():75-80.
1989: Jeffery Vance; Margaret Pericak-Vance; LH Yamaoka; Marcy C Speer; G O Rosenwasser; Kent W Small; Perry C Gaskell; Wu-Yen Hung; Mark J Alberts; CS Haynes
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.
American journal of human genetics 1989;44(1):25-9.
1988: Margaret Pericak-Vance; LH Yamaoka; CS Haynes; Marcy C Speer; Jonathan L Haines; Perry C Gaskell; Wu-Yen Hung; C M Clark; Albert Heyman; J A Trofatter
Genetic linkage studies in Alzheimer's disease families.
Experimental neurology 1988;102(3):271-9.
1988: Marcy C Speer; Margaret Pericak-Vance; LH Yamaoka; James Koh; Wu-Yen Hung; Perry C Gaskell; Jeffery Vance; R J Bartlett; Allen D Roses
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy.
Prenatal diagnosis 1988;8(6):427-37.
1988: R J Bartlett; Margaret Pericak-Vance; James Koh; LH Yamaoka; J C Chen; Wu-Yen Hung; Marcy C Speer; M C Wapenaar; G J Van Ommen; E Bakker
Duchenne muscular dystrophy: high frequency of deletions.
Neurology 1988;38(1):1-4.
1987: Margaret Pericak-Vance; LH Yamaoka; Jeffery Vance; Kent W Small; G O Rosenwasser; Perry C Gaskell; Wu-Yen Hung; Mark J Alberts; CS Haynes; Marcy C Speer
Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).
Genomics 1987;1(4):349-52.
1987: J T Lanman; Margaret Pericak-Vance; R J Bartlett; J C Chen; L Yamaoka; James Koh; Marcy C Speer; Wu-Yen Hung; Allen D Roses
Familial inheritance of a DXS164 deletion mutation from a heterozygous female.
American journal of human genetics 1987;41(2):138-44.