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Lista de obras de Joan Bailey-Wilson

8q24 risk alleles and prostate cancer in African-Barbadian men.

artículo científico publicado en 2014

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin

artículo científico publicado en 2016

A Comparison Study of Fixed and Mixed Effect Models for Gene Level Association Studies of Complex Traits

artículo científico publicado en 2016

A Comprehensive Method for Genome Scans

artículo científico publicado en 2002

A Genetic Contribution to Intraocular Pressure: The Beaver Dam Eye Study

artículo científico publicado en 2005

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase

artículo científico publicado en 2015

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics

artículo científico publicado en 2005

A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history

artículo científico publicado en 2005

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

artículo científico publicado en 2010

A comparison study of multivariate fixed models and Gene Association with Multiple Traits (GAMuT) for next-generation sequencing

artículo científico publicado en 2016

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.

artículo científico publicado en 2011

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

artículo científico publicado en 2012

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

article

A genome-wide association study of corneal astigmatism: The CREAM Consortium

artículo científico publicado en 2018

A genome‐wide scan for loci predisposing to non‐syndromic cleft lip with or without cleft palate in two large Syrian families ⬇️

artículo científico publicado el 1 de diciembre de 2003

A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

artículo científico publicado en 2001

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region

scholarly article by Agnes B. Baffoe-Bonnie et al published 22 October 2005 in Human Genetics

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.

artículo científico publicado en 2005

A major lung cancer susceptibility locus maps to chromosome 6q23-25.

artículo científico publicado en 2004

A more powerful robust sib-pair test of linkage for quantitative traits

artículo científico publicado en 1989

A powerful new method for rare-variant analysis of quantitative traits in families

scientific article published on 21 September 2020

A recurrent mutation in PARK2 is associated with familial lung cancer

artículo científico publicado en 2015

A second genetic variant on chromosome 15q24-25.1 associates with lung cancer

artículo científico publicado en 2010

A susceptibility locus on chromosome 6q greatly increases lung cancer risk among light and never smokers

artículo científico publicado en 2010

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer

artículo científico publicado en 2008

Abstract 2757: Evaluation ofEYA4as a candidate risk locus in familial lung cancer families linked to 6q

Abstract B40: Rare variant discovery in known cancer genes from whole-exome sequencingof African American hereditary prostate cancer families

article

Abstract LB-189: Genetic Epidemiology of Lung Cancer Consortium: genome-wide association study of familial lung cancer cases:

Admixture mapping of obesity-related traits in African Americans: the Atherosclerosis Risk in Communities (ARIC) Study

artículo científico publicado en 2009

African-American heredity prostate cancer study: a model for genetic research

artículo científico publicado en 2001

African-American heredity prostate cancer study: a model for genetic research.

artículo científico publicado en 2001

Allele frequency misspecification: effect on power and Type I error of model-dependent linkage analysis of quantitative traits under random ascertainment

artículo científico publicado en 2006

Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer

article

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families ⬇️

artículo científico publicado el 19 de junio de 2012

Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.

artículo científico publicado en 2017

Analysis of the CDKN2A Gene in FAMMM Syndrome Families Reveals Early Age of Onset for Additional Syndromic Cancers

artículo científico publicado en 2019

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

artículo científico publicado en 2015

Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data

artículo científico publicado en 2009

Application of the propensity score in a covariate-based linkage analysis of the Collaborative Study on the Genetics of Alcoholism

artículo científico publicado en 2005

Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study

artículo científico publicado en 2015

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

artículo científico publicado en 2013

Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families

artículo científico publicado en 2010

Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci

article

Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees

article

Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families

artículo científico publicado en 2004

Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.

artículo científico publicado en 2004

Autosomal dominant inheritance of prostate cancer: a confirmatory study

article

Bipolar disorder: evidence for a major locus

artículo científico publicado en 1995

Brief review of regression-based and machine learning methods in genetic epidemiology: the Genetic Analysis Workshop 17 experience.

artículo científico publicado en 2011

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

artículo científico publicado en 2004

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

artículo científico publicado en 2017

Cellular genes in the mouse regulate in trans the expression of endogenous mouse mammary tumor viruses

artículo científico publicado en 1985

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

artículo científico publicado en 2016

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

artículo científico publicado en 2011

Clinical characteristics of African-American men with hereditary prostate cancer: the AAHPC Study

artículo científico publicado en 2004

Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases

artículo científico publicado en 1998

ComPaSS-GWAS: A method to reduce type I error in genome-wide association studies when replication data are not available

artículo científico publicado en 2018

Combined Genome-Wide Scan for Prostate Cancer Susceptibility Genes

article

Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults

artículo científico publicado en 2015

Comparison of novel and existing methods for detection of linkage disequilibrium using parent-child trios in the GAW12 genetic isolate simulated data.

artículo científico publicado en 2001

Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data

artículo científico publicado en 2016

Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression

artículo científico publicado en 2011

Comparison of selected methods used to analyze bipolar disorder

Comparison of selected methods used to analyze bipolar disorder

artículo científico publicado en 1997

Comparison of sib-pair and variance-components methods for genomic screening

artículo científico publicado en 1997

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2007

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology

artículo científico publicado en 2022

Confirmation of Linkage to Ocular Refraction on Chromosome 22q and Identification of a Novel Linkage Region on 1q

artículo científico publicado en 2007

Consanguineous matings in an Israeli-Arab community

artículo científico publicado en 1994

Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population

artículo científico publicado en 2010

Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

artículo científico publicado en 2015

Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkage

artículo científico publicado en 2006

Critique of a published analysis of the Jacobsen data

Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer

artículo científico publicado en 2010

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

artículo científico publicado en 2014

Developmental expression of tyrosyl kinase activity in human serum

artículo científico publicado en 1987

Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading

artículo científico publicado en 1986

Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test

artículo científico publicado en 1985

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis

artículo científico publicado en 2011

EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity

artículo científico publicado en 2007

EPHA2 is associated with age-related cortical cataract in mice and humans

artículo científico publicado en 2009

Effect of cohort differences in smoking prevalence on models of lung cancer susceptibility

artículo científico publicado en 1992

Effects of Misspecification of Allele Frequencies on the Type I Error Rate of Model-Free Linkage Analysis

scientific article published on 01 March 2000

Effects of marker information on sib-pair linkage analysis of a rare disease

Effects of misspecification of allele frequencies on the power of Haseman-Elston sib-pair linkage method for quantitative traits

artículo científico publicado en 2001

Epidemiology. DNA identifications after the 9/11 World Trade Center attack

artículo científico publicado en 2005

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Erratum: Genome-wide scanning for linkage in Finnish breast cancer families

scholarly article published in European Journal of Human Genetics

Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies

artículo científico publicado en 2008

Estimation of Linkage and Association from Allele Transmission Data

article

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer

artículo científico publicado en 2001

Evaluation of random forests performance for genome-wide association studies in the presence of interaction effects

artículo científico publicado en 2009

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

artículo científico publicado en 2004

Evidence for a major gene effect in early-onset lung cancer.

artículo científico publicado en 1993

Evidence for a major gene influencing risk of pancreatic cancer

article

Evidence for a prostate cancer susceptibility locus on the X chromosome.

article

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

article published in 2003

Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data

artículo científico publicado en 2008

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families

scholarly article by Claire L Simpson et al published 31 January 2019 in BMC Medical Genetics

False-positive rates in two-point parametric linkage analysis

artículo científico publicado en 2014

Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies

artículo científico publicado en 2017

Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer

artículo científico publicado en 2008

Familial aggregation of myopia in the Tehran eye study: estimation of the sibling and parent offspring recurrence risk ratios

artículo científico publicado en 2007

Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene

artículo científico publicado en 2009

Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36.

artículo científico publicado en 2009

Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer

artículo científico publicado en 2016

Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis

artículo científico publicado en 2003

Functional linear models for association analysis of quantitative traits

artículo científico publicado en 2013

Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios

artículo científico publicado en 2015

Gene-based association analysis of survival traits via functional regression-based mixed effect cox models for related samples

artículo científico publicado en 2019

GeneLink: a database to facilitate genetic studies of complex traits

artículo científico publicado en 2004

Generalized functional linear models for gene-based case-control association studies

artículo científico publicado en 2014

Genes, environment and the value of prospective cohort studies

artículo científico publicado en 2006

Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans

artículo científico publicado en 2005

Genetic analysis of human breast cancer: A synthesis of contributions to Gaw IV

Genetic epidemiology of breast cancer: Segregation analysis of 389 Icelandic pedigrees

artículo científico publicado en 2000

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis

artículo científico publicado en 2012

Gene‐based analysis of bi‐variate survival traits via functional regressions with applications to eye diseases

artículo científico publicado en 2021

Genome screen in familial intracranial aneurysm

Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study

artículo científico publicado en 2008

Genome-wide Scan for Myopia in the Old Order Amish

artículo científico publicado en 2005

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

artículo científico publicado en 2014

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

artículo científico publicado en 2018

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

artículo científico publicado en 2014

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

artículo científico publicado en 2017

Genome-wide association study of familial lung cancer

Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk

artículo científico publicado en 2012

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses

artículo científico publicado en 2010

Genome-wide linkage analysis of multiple metabolic factors: evidence of genetic heterogeneity

artículo científico publicado en 2009

Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer Study (AAHPC)

artículo científico publicado en 2007

Genome-wide linkage scan for prostate cancer susceptibility in Finland: evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22.

artículo científico publicado en 2011

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

artículo científico publicado en 2013

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

artículo científico publicado en 2014

Genome-wide scan for linkage in finnish hereditary prostate cancer (HPC) families identifies novel susceptibility loci at 11q14 and 3p25-26.

artículo científico publicado en 2003

Genome-wide scan of African-American and white families for linkage to myopia

artículo científico publicado en 2008

Genome-wide scanning for linkage in Finnish breast cancer families

article

Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33

scientific article published on 02 March 2019

Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12

artículo científico publicado en 2004

Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study

artículo científico publicado en 2009

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.

artículo científico publicado en 2006

Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.

artículo científico publicado en 2008

George Bonney (1947-2013) Remembered

article published in 2013

Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer

artículo científico publicado en 2002

Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk

artículo científico publicado en 2002

Germline mutations in the ribonuclease L gene in families showing linkage with HPC1

artículo científico publicado en 2002

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

artículo científico publicado en 2012

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

artículo científico publicado en 2002

Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25.1.

artículo científico publicado en 2009

Haplotypes and haplotype-tagging single-nucleotide polymorphism: presentation Group 8 of Genetic Analysis Workshop 14.

artículo científico publicado en 2005

Haplotypic structure of the X chromosome in the COGA population sample and the quality of its reconstruction by extant software packages

artículo científico publicado en 2005

Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). I. Clinical description of resource

article

Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studies

article

Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus

scholarly article by Annika R�kman et al published 11 November 2004 in Human Genetics

Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study

artículo científico publicado en 2009

Heritability and familial aggregation of refractive error in the Old Order Amish

artículo científico publicado en 2007

High carrier frequency for recessive OI in West Africans

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

artículo científico publicado en 2015

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

artículo científico publicado en 2002

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1.

artículo científico publicado en 2007

Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree

artículo científico publicado en 2006

Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study

artículo científico publicado en 2007

Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium

artículo científico publicado en 2005

Identifying rare variants from exome scans: the GAW17 experience

artículo científico publicado en 2011

Importance sampling method of correction for multiple testing in affected sib-pair linkage analysis

artículo científico publicado en 2003

Increased familial risk for lung cancer

artículo científico publicado en 1986

Increased familial risk for non-lung cancer among relatives of lung cancer patients

artículo científico publicado en 1987

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare Variants

article

Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants

article

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

artículo científico publicado en 2014

Inferring relationships between pairs of individuals from locus heterozygosities

artículo científico publicado en 2002

Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: complexities associated with genealogical depth of pedigrees in segregation analyses

artículo científico publicado en 2005

Introduction: association and transmission/disequilibrium test analyses of discrete traits in the GAW12 simulated data.

artículo científico publicado en 2001

Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits

artículo científico publicado en 2005

KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland

artículo científico publicado en 2006

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

artículo científico publicado en 2012

Linear mixed models for association analysis of quantitative traits with next-generation sequencing data

Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association

artículo científico publicado en 2012

Linkage analysis in a large pedigree ascertained due to essential familial hypercholesterolemia

artículo científico publicado en 1993

Linkage analysis in the next-generation sequencing era

artículo científico publicado en 2011

Linkage analysis of quantitative refraction and refractive errors in the Beaver Dam Eye Study

artículo científico publicado en 2011

Localization of a gene for Duane retraction syndrome to chromosome 2q31

artículo científico publicado en 1999

Localization of a novel melanoma susceptibility locus to 1p22

artículo científico publicado en 2003

Lung Cancer Susceptibility Genes

article

Lung cancer detection and prevention: evidence for an interaction between smoking and genetic predisposition.

artículo científico publicado en 1992

Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search

artículo científico publicado en 1996

Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study

artículo científico publicado en 2012

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

artículo científico publicado en 2004

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

artículo científico publicado en 2013

Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: A meta-analysis

article

Model-free association analysis of a rare Disease

Myopia in Chinese families shows linkage to 10q26.13.

artículo científico publicado en 2018

National Cancer Institute Prostate Cancer Genetics Workshop

artículo científico publicado en 2011

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

artículo científico publicado en 2013

Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysis

artículo científico publicado en 2007

OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea.

artículo científico publicado en 2019

Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data

artículo científico publicado en 2011

Ordered subset analysis identifies loci influencing lung cancer risk on chromosomes 6q and 12q

artículo científico publicado en 2010

Parametric Linkage Analysis Identifies Five Novel Genome-Wide Significant Loci for Familial Lung Cancer

artículo científico publicado en 2017

Parametric and Nonparametric Linkage Analysis

Parametric versus nonparametric and two-point versus multipoint: controversies in gene mapping

article

Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate.

artículo científico publicado en 2004

Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations

artículo científico publicado en 2004

Performance of random forests and logic regression methods using mini-exome sequence data

artículo científico publicado en 2011

Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge

artículo científico publicado en 2017

Physical and transcript map of the hereditary prostate cancer region at xq27.

artículo científico publicado en 2002

Pleiotropy analysis of quantitative traits at gene level by multivariate functional linear models

artículo científico publicado en 2015

Polygenic Effects and Cigarette Smoking Account for a Portion of the Familial Aggregation of Nuclear Sclerosis

artículo científico publicado en 2005

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate

artículo científico publicado en 2009

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2006

Population Isolates in South Tyrol and Their Value for Genetic Dissection of Complex Diseases

artículo científico publicado en 2006

Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies

artículo científico publicado en 2016

Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific

scientific article published on 01 January 1993

Proceedings of the Genetic Analysis Workshop 13: analysis of longitudinal family data for complex diseases and related risk factors. November 11-14, 2002. New Orleans, Louisiana, USA

article

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

scholarly article by Nina Mononen et al published 15 January 2006 in Cancer Research

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

artículo científico publicado en 1999

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

artículo científico publicado en 2016

Rare copy number variants in patients with congenital conotruncal heart defects.

artículo científico publicado en 2017

Rare deleterious germline variants and risk of lung cancer

artículo científico publicado en 2021

Rare variants in known susceptibility loci and their contribution to risk of lung cancer

artículo científico publicado en 2018

Recruitment strategies and comparison of prostate cancer-specific clinical data on African-American and Caucasian males with and without family history

artículo científico publicado en 2008

Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort

artículo científico publicado en 2013

Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data

artículo científico publicado en 2011

Replicating genotype-phenotype associations

artículo científico publicado en 2007

Response to Craddock et al

Risk estimation using probability machines.

artículo científico publicado en 2014

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

article published in 1999

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.

artículo científico publicado en 1999

Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance

artículo científico publicado en 2007

Segregation analysis of 389 Icelandic pedigrees with Breast and prostate cancer

article

Segregation analysis of cutaneous melanoma in Queensland

article

Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China

artículo científico publicado en 2000

Segregation analysis of hereditary nonpolyposis colorectal cancer

artículo científico publicado en 1986

Segregation analysis of smoking-associated malignancies: evidence for Mendelian inheritance

artículo científico publicado en 1994

Segregation analysis of urothelial cell carcinoma

article

Sib-pair linkage analyses of Alzheimer's disease

artículo científico publicado en 1993

Sib-pair linkage analysis applied to pedigrees with melanoma and dysplastic nevi

scientific article published on 01 January 1992

Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing

scientific article published on 21 June 2019

Society for Social Medicine and the International Epidemiological Association European Group. Abstracts of oral presentations

article

Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

artículo científico publicado en 2000

Stepwise oligogenic segregation and linkage analysis illustrated with dopamine-beta-hydroxylase activity

artículo científico publicado en 1990

Structure-function correlations using scanning laser polarimetry in primary angle-closure glaucoma and primary open-angle glaucoma

artículo científico publicado en 2010

Suggestive evidence of linkage identified at chromosomes 12q24 and 2p16 in African American prostate cancer families from Louisiana

artículo científico publicado en 2011

Support for Polygenic Influences on Ocular Refractive Error

artículo científico publicado en 2005

Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate

artículo científico publicado en 1998

The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population

The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation ⬇️

artículo científico publicado en 2017

The HGAR1 familial hypercholesterolemia pedigree.

artículo científico publicado en 1993

The biology of tobacco and nicotine: bench to bedside.

artículo científico publicado en 2005

The number of STR markers necessary to resolve relationships in deficiency paternity cases

The relationship between smoking and replicated sequence variants on chromosomes 8 and 9 with familial intracranial aneurysm

artículo científico publicado en 2010

The transmission/disequilibrium test for linkage on the X chromosome

artículo científico publicado en 2000

The value of molecular haplotypes in a family-based linkage study

artículo científico publicado en 2006

Tiled regression reduces type I error rates in tests of association of rare single nucleotide variants with non-normally distributed traits, compared with simple linear regression

scholarly article published November 2015

Transmission/disequilibrium tests of androgen receptor and glutathione S-transferase pi variants in prostate cancer families

artículo científico publicado en 2002

Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect

article

Variable selection method for the identification of epistatic models

artículo científico publicado en 2015

Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q

scientific article published on 11 December 2019

Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts

artículo científico publicado en 2014

gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels

artículo científico publicado en 2017

r2VIM: A new variable selection method for random forests in genome-wide association studies

artículo científico publicado en 2016

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