M. Speer

发表

GAW10: Simulated family data for a common oligogenic disease with quantitative risk factors

J. Blangero, J. Blangero, T. Dyer, 1997, Genetic epidemiology.

Standardizing global gene expression analysis between laboratories and across platforms

Kathleen F. Kerr, Roger E Bumgarner, H. Dressman, 2005, Nature Methods.

myotilin Mutation found in second pedigree with LGMD1A.

M. Pericak-Vance, J. Vance, M. Hauser, 2002, American journal of human genetics.

Candidate gene analysis in human neural tube defects

A. Boyles, M. Speer, P. Hammock, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Human neural tube defects: developmental biology, epidemiology, and genetics.

John R Gilbert, J. Gilbert, M. Vekemans, 2005, Neurotoxicology and teratology.

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.

J. Gilbert, D. Stephan, D. Craig, 2006, Birth defects research. Part A, Clinical and molecular teratology.

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

Jonathan Haines, J. Haines, D. Schwartz, 2002, American journal of respiratory and critical care medicine.

APOE2 allele increased in tardive dyskinesia

J. Halford, A. Saunders, W. Strittmatter, 2006, Movement disorders : official journal of the Movement Disorder Society.

Harnessing the power of the pedigree.

M. Speer, C. Wolpert, 2005, Journal of midwifery & women's health.

Speaking the language of genetics: a primer.

M. Speer, C. Wolpert, Margaret L Singer, 2005, Journal of midwifery & women's health.

Myotilin is mutated in limb girdle muscular dystrophy 1A.

J. Gilbert, M. Pericak-Vance, J. Vance, 2000, Human molecular genetics.

Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

L. Thorne, J. Stajich, C. Powell, 2008, American journal of medical genetics. Part A.

Data simulation for GAW9 problems 1 and 2

J Ott, M C Speer, J D Terwilliger, 1995, Genetic epidemiology.

Chromosome‐based method for rapid computer simulation in human genetic linkage analysis

M Speer, J D Terwilliger, J. Terwilliger, 1993, Genetic epidemiology.

Evaluation of Current Methods of Testing Differential Gene expression and Beyond

Marcy C. Speer, Eden R. Martin, Yi-Ju Li, 2002 .

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

J. Gilbert, S. Gregory, A. Ashley-Koch, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Contents Vol. 59, 2005

M. Pericak-Vance, V. Vieland, D. Naiman, 2005, Human Heredity.

Natural Food Folate and Late-Life Depression

B. Jamerson, D. Steffens, A. Ashley-Koch, 2008, Journal of nutrition for the elderly.

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

A. Munnich, P. Wincker, P. Xu, 2008, Human molecular genetics.

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

M. Pericak-Vance, J. Riley, J. Vance, 2006, European Journal of Human Genetics.

The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression.

Stephan Züchner, Warren D Taylor, James R MacFall, 2008, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Basic Concepts in Genetics and Linkage Analysis

M. Speer, E. Melvin, E. C. Melvin, 2005 .

Linkage studies in familial Alzheimer's disease.

M. Pericak-Vance, A. Roses, C. Clark, 1989 .

High Density SNP Screen in A Large Multiplex Neural Tube Defect Family Refines Linkage to Loci at 7p21-Pter And 2q33.1-35

J. Gilbert, D. Stephan, Diane Hu-Lince, 2014 .

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.

M. Pericak-Vance, J. Vance, J. Stajich, 1998, Genomics.

Spectrum of disease in familial focal and segmental glomerulosclerosis.

M. Pericak-Vance, K. Lynn, L. Quarles, 1999, Kidney international.

Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9

M. Pericak-Vance, A. Roses, E. Jabs, 1994, Neuromuscular Disorders.

Apolipoprotein E alleles and sensorineural hearing loss

W. Strittmatter, F. DeRuyter, A. Boyles, 2007, International journal of audiology.

Maternal fumonisin exposure as a risk factor for neural tube defects.

V. Stevens, M. Speer, R. Riley, 2009, Advances in food and nutrition research.

Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis.

B. Trask, J. Gilbert, P. D. de Jong, 1992, Genomics.

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

M. Pericak-Vance, A. Guttmacher, J. Vance, 1998, Human Genetics.

Linkage analysis in familial amyotrophic lateral sclerosis

M. Pericak-Vance, W. Hung, N. Siddique, 1989, Neurology.

Haplotype analysis of human AMPD1 gene: origin of common mutant allele

T. Morisaki, H. Morisaki, N. Kamatani, 2004, Journal of Medical Genetics.

Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).

J. Gilbert, A. Roses, J. Vance, 1992, American journal of human genetics.

Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.

M. Pericak-Vance, A. Roses, J. Vance, 1989, American journal of human genetics.

Genetic Studies in Neural Tube Defects

W. J. Oakes, M. Pericak-Vance, M. Qumsiyeh, 2000, Pediatric Neurosurgery.

Familial pulmonary fibrosis in the United States.

M. Wahidi, D. Schwartz, K. Brown, 2002, Chest.

Characterization of asthma, atopy and associated phenotypes in families identified through child probands with physician diagnosed asthma.

M. Pericak-Vance, A. Roses, K. Carlsen, 2000 .

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

J. Gilbert, M. Pericak-Vance, J. Vance, 1993, American journal of human genetics.

Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

M. Pericak-Vance, R. Bartlett, W. Hung, 1987, American journal of human genetics.

Fumonisin Inhibition of Ceramide Synthase: A Possible Risk Factor for Human Neural Tube Defects

V. Stevens, M. Speer, R. Riley, 2006 .

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

F. Baas, M. Speer, M. Visser, 1996, Nature Genetics.

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

W. J. Oakes, A. Ashley-Koch, M. Speer, 2012, Journal of neurosurgery. Pediatrics.

A genetic hypothesis for Chiari I malformation with or without syringomyelia.

T. Milhorat, T. George, M. Speer, 2000, Neurosurgical focus.

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.

L. Peltonen, J. Ott, K. Alitalo, 1993, Genomics.

Linkage studies of late-onset familial Alzheimer's disease.

J. Gilbert, M. Pericak-Vance, A. Roses, 1990, Advances in neurology.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Danqing Zhu, Stephan Züchner, M. Pericak-Vance, 2005, Nature Genetics.

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

T. Meitinger, T. Strom, K. White, 2000, Nature Genetics.

Gene expression profiling of familial and sporadic interstitial pneumonia.

Ivana V. Yang, John W Hollingsworth, D. Schwartz, 2007, American journal of respiratory and critical care medicine.

Gene Expression Profiling of Familial and Sporadic Cases of Interstitial Pneumonia

Ivana V. Yang, D. Schwartz, K. Brown, 2006 .

Clinical and pathologic features of familial interstitial pneumonia.

H Page McAdams, Susan H Slifer, M. Wahidi, 2005, American journal of respiratory and critical care medicine.

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)

A. Roses, M. Speer, F. Hentati, 1995, American journal of human genetics.

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Jeremy W. Linsley, Hiromi Hirata, M. Hauser, 2013, Nature Communications.

Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.

M C Speer, T. Milhorat, M. Speer, 1999, Neurosurgery.

Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.

K. Krishnan, D. Steffens, J. Provenzale, 2002, American journal of medical genetics.

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.

C T Falk, J M Gilchrist, M A Pericak-Vance, 1998, American journal of human genetics.

Complex Genetic Disorders: Evaluating When Genetic Research Findings Are Applicable for Genetic Counseling Practice

M. Speer, C. Wolpert, E. C. Melvin, 1999, Journal of Genetic Counseling.

False positive rates in a genomic screen for complex quantitative traits

M. Pericak-Vance, S. Leal, W. Scott, 1997, Genetic epidemiology.

T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.

J. Gilbert, E. Rampersaud, K. Viles, 2002, American journal of medical genetics.

Update on psychiatric genetics

S. Züchner, J. Beckham, M. Speer, 2007, Genetics in Medicine.

Genetic linkage studies in Alzheimer's disease families

J. M. Vance, J. L. Haines, A. D. Roses, 1988, Experimental Neurology.

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

J. Gilbert, D. McClay, A. Bassuk, 2005, Human Genetics.

Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele

A. Bassuk, J. Kessler, T. George, 2005, Genetics in Medicine.

Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

M. Speer, P. Mcenery, F. Lennon, 1997, The Journal of clinical investigation.

Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.

M. Polymeropoulos, M. Lovett, E. Jabs, 1993, Genomics.

Genetic Linkage Analysis in Human Disease

S. Leal, M. Speer, 2000 .

Genetic Linkage Studies in Late-Onset Alzheimer’s Disease Families

J. Gilbert, J. Haines, M. Pericak-Vance, 1988 .

A common MUC5B promoter polymorphism and pulmonary fibrosis.

Ivana V. Yang, S. Auerbach, D. Schwartz, 2011, The New England journal of medicine.

Linkage Disequilibrium Inflates Type I Error Rates in Multipoint Linkage Analysis when Parental Genotypes Are Missing

Margaret A. Pericak-Vance, Silke Schmidt, Marcy C. Speer, 2005, Human Heredity.

Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics

Richard G. Ellenbogen, Thomas H. Milhorat, Marcy C. Speer, 2003, Journal of Genetic Counseling.

Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.

J. Gilbert, A. Bassuk, E. Linney, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

J. Vance, J. Stajich, M. Speer, 1996, American journal of human genetics.

CA Repeat Polymorphism of theCOL6A3 Gene on Chromosome 2 q37

M. Speer, M. Chu, T. Pan, 1998, Human Heredity.

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1

J. Gilbert, D. Stephan, V. Zismann, 2008, Neurology.

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

M. Pericak-Vance, J. Vance, W. Hung, 1987, Genomics.

Refinement of 2q and 7p loci in a large multiplex NTD family.

J. Gilbert, D. Stephan, J. Connelly, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

M. Pericak-Vance, J. Vance, W. Hung, 1989, Experimental Neurology.

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.

M. Pericak-Vance, J. Beckmann, J. Vance, 1992, American journal of human genetics.

Folic acid and the prevention of neural tube defects: A position paper of the national society of genetic counselors

M. Speer, B. Baty, Leslie Cohen, 1996, Journal of Genetic Counseling.

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

J. Gilbert, D. Stephan, B. Green, 2006, American journal of medical genetics. Part A.

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35

J. Haines, M. Pericak-Vance, Robert H. Brown, 1994, Nature Genetics.

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

M. Pericak-Vance, M. Speer, E. McNally, 1997, American journal of human genetics.

Respiratory muscle involvement in Bethlem myopathy

M. Speer, R. Tandan, R. Haq, 1999, Neurology.

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.

M. Pericak-Vance, W. Scott, J. Stajich, 1998, Journal of medical genetics.

Duchenne muscular dystrophy

J. Gilbert, M. Pericak-Vance, R. Bartlett, 1988, Neurology.

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.

J. Stajich, R. Ramesar, E. Jorgenson, 1995, American journal of human genetics.

Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions

J. Gilbert, H. Nijhout, M. Reed, 2006, Environmental health perspectives.

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

D. W. Johnson, M. Pericak-Vance, R. Kucherlapati, 1996, Nature Genetics.

TERC is not a major gene in human neural tube defects.

J. Gilbert, A. Bassuk, J. Kessler, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Genetic mapping of a novel familial form of infantile hemangioma.

S. Orlow, D. Marchuk, F. Blei, 1999, American journal of medical genetics.

Absence of linkage of ABO blood group locus to familial tuberous sclerosis

M. Pericak-Vance, W. Hung, M. Nellist, 1989, Experimental Neurology.

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.

T. Strom, M. Econs, F. Francis, 1998, The Journal of clinical endocrinology and metabolism.

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

J. Gilbert, M. Pericak-Vance, J. Vance, 1996, Human molecular genetics.

Association of AGTR1 with 18-month treatment outcome in late-life depression.

K. Krishnan, C. Pieper, D. Steffens, 2007, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4

J. Gilbert, J. Stajich, R. Frants, 2007, Neurology.

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.

M. Pericak-Vance, M. Knowles, M. Speer, 1989, Annals of internal medicine.

A microsatellite genetic linkage map of human chromosome 13.

M C Speer, J. Ott, T. Gilliam, 1993, Genomics.

A microsatellite genetic linkage map of human chromosome 18.

M C Speer, J. Ott, R. Straub, 1993, Genomics.

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

S. Gregory, T. George, M. Speer, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Use of LINKAGE Programs for Linkage Analysis

M. Speer, 2001, Current protocols in human genetics.

Use of LINKAGE Programs for Linkage Analysis

M. Speer, 2001 .

Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.

M. Pericak-Vance, D. Goldgaber, M. Speer, 1991, Genomics.

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

M. Pericak-Vance, J. Vance, J. Stajich, 1999, American journal of human genetics.

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

R. Timpl, Takako Sasaki, E. Hohenester, 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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.

J. Vance, R. Ramesar, S. Horrigan, 1999, Genomics.

Estimated fumonisin exposure in Guatemala is greatest in consumers of lowland maize.

Kerry O'Donnell, A. Merrill, K. O’Donnell, 2007, The Journal of nutrition.

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432

M. Pericak-Vance, J. Vance, J. Stajich, 2002, Neurogenetics.

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

M. Pericak-Vance, J. Vance, S. Tsuji, 1997, Neurogenetics.

Genomic analyses: a neonatology perspective.

G. Ginsburg, R. Goldberg, M. Speer, 2006, The Journal of pediatrics.

Rapid publication: Flanking markers define the X‐linked hypophosphatemic rickets gene locus

M. Pericak-Vance, M. Econs, D. Barker, 1993, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Multilocus mapping of the X-linked hypophosphatemic rickets gene.

M. Pericak-Vance, D. Barker, P. Fain, 1992, The Journal of clinical endocrinology and metabolism.

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

M. Pericak-Vance, R. Bartlett, H. Betz, 1990, Genomics.

Additional Glomangioma Families Link to Chromosome 1p: No Evidence for Genetic Heterogeneity

S. Orlow, D. Marchuk, M. Speer, 2001, Human Heredity.

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy

J. Gilbert, M. Pericak-Vance, E. Rampersaud, 2001, Journal of clinical neuromuscular disease.

Allelic and locus heterogeneity in inherited venous malformations.

M C Speer, N C Nevin, J T Calvert, 1999, Human molecular genetics.

Life After the Screen: Making Sense of Many P‐Values

E R Martin, M A Pericak-Vance, M C Speer, 2001, Genetic epidemiology.

Complete genomic screen for disease susceptibility loci in nuclear families

M. Pericak-Vance, E. Hauser, W. Scott, 1999, Genetic epidemiology.

Folate metabolism genes, dietary folate and response to antidepressant medications in late‐life depression

B. Jamerson, D. Steffens, A. Ashley-Koch, 2013, International journal of geriatric psychiatry.

Linkage Studies in Tuberous Sclerosis

M. Pericak-Vance, W. Hung, M. Nellist, 1991, Annals of the New York Academy of Sciences.

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a

J. Haines, M. Pericak-Vance, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Studies of reduced folate carrier 1 (RFC1) A80G and 5,10‐methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects

M. Marazita, J. Murray, M. Speer, 2005, American journal of medical genetics. Part A.

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

M. Pericak-Vance, J. Vance, J. Stajich, 1998, Human molecular genetics.

The genetics of innate immunity in the lung.

Shuibang Wang, John Quackenbush, D. Schwartz, 2003, Chest.

Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects.

J. Murray, M. Speer, A. R. Vieira, 2002, American journal of medical genetics.

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

M. Pericak-Vance, R. Bartlett, A. Roses, 1988, Prenatal diagnosis.

Heterogeneity in Paget disease of the bone.

M. Pericak-Vance, F. Nuttall, J. Vance, 2000, American journal of medical genetics.

Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression.

Stephan Züchner, Warren D Taylor, K. Krishnan, 2007, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

A functional alternative splicing mutation in human tryptophan hydroxylase-2

F. McMahon, K. Krishnan, T. Sotnikova, 2010, Molecular Psychiatry.

A Common MUC 5 B Promoter Polymorphism and Pulmonary Fibrosis

Ivana V. Yang, D. A. Schwartz, S. Auerbach, 2011 .

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

M. Pericak-Vance, J. Vance, J. Stajich, 1998, Human Heredity.

The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B

J. Gilbert, J. Stajich, M. Speer, 2005, Neuromuscular Disorders.

Further exclusion of FSHD1B from the telomeric region of 10q

J. Gilbert, M. Pericak-Vance, J. Vance, 1997, Neurogenetics.

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

J. Gilbert, M. Pericak-Vance, J. Vance, 1995, Journal of Medical Genetics.