List of works by Andrew D. Paterson

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

scientific article published on 27 April 2018

A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways

scientific article

A Novel Locus of Ectodermal Dysplasia Maps to Chromosome 10q24.32–q25.1

A functional polymorphism of Ptpn22 is associated with type 1 diabetes in the BioBreeding rat

scientific journal article

A genome scan for parent-of-origin linkage effects in alcoholism

scientific article

A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose

scientific article

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.

scientific article published on 11 June 2018

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

scientific article published on 21 December 2011

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A large Calabrian kindred segregating frontotemporal dementia.

scientific article published in July 2002

A novel susceptibility locus on rat chromosome 8 affects spontaneous but not experimentally induced type 1 diabetes

scientific article published on 27 March 2007

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

ANKH variants associated with ankylosing spondylitis: gender differences

scientific article

Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

scientific article

Age and sex based genetic locus heterogeneity in type 1 diabetes.

scientific article

Age of diagnosis-based linkage analysis in type 1 diabetes.

scientific article published in February 2000

Albuminuria Changes and Cardiovascular and Renal Outcomes in Type 1 Diabetes: The DCCT/EDIC Study

scientific article

An analysis of identical single-nucleotide polymorphisms genotyped by two different platforms

scientific article

An enzyme linked immunosorbent assay (ELISA) for the determination of the human haptoglobin phenotype

scientific article published on August 2013

Analysis 3: Genetic analysis of chromosome 6 in inflammatory bowel disease

Analysis of Genetic Association of Intestinal Permeability in Healthy First-degree Relatives of Patients with Crohn's Disease

scientific article published in October 2019

Analysis of parental-origin effects in linkage data

scientific article published on 01 March 2000

Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease

article

Assessing models for genetic prediction of complex traits: a comparison of visualization and quantitative methods

scientific article published on 22 May 2015

Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes

article

Assessment and Selection of Competing Models for Zero-Inflated Microbiome Data

scientific article

Assessment of linkage and association of 13 genetic loci with bone mineral density

article

Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism

scientific article published in February 2004

Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women

Association of host genome with intestinal microbial composition in a large healthy cohort

scientific article

Association of systemic lupus erythematosus (SLE) genetic susceptibility loci with lupus nephritis in childhood-onset and adult-onset SLE

scientific article published on 01 January 2020

Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia

scientific article published in July 1999

Association study between the dopamine D4 receptor gene and schizophrenia

scientific article published in October 1995

Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn's disease subjects

scientific article published on 15 October 2020

BR-squared: a practical solution to the winner's curse in genome-wide scans

scientific article

Bayesian latent variable models for hierarchical clustered count outcomes with repeated measures in microbiome studies

scientific article

CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa

scientific article

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

scientific article

CUBN is a gene locus for albuminuria

scientific article

Caffeine Consumption Contributes to Skin Intrinsic Fluorescence in Type 1 Diabetes

scientific article

Case-control association studies in complex traits–the end of an era? ⬇️

scientific article published on July 1, 1997

Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia

scientific article published on 30 January 2003

Childhood antecedents of schizophrenia

scientific article published on March 1995

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

scientific article published on 13 May 2016

Cohort profile: genomic data for 26 622 individuals from the Canadian Longitudinal Study on Aging (CLSA)

scientific article published in 2022

Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families.

scientific article published on 13 February 2017

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

scientific article

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

scientific article

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

DNA methylation at the putative promoter region of the human dopamine D2 receptor gene

scientific article

DNA methylation mediates development of HbA1c-associated complications in type 1 diabetes

scientific article published on 20 July 2020

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that act independently?

scientific article published on 23 June 2012

Drinking from the Holy Grail: analysis of whole-genome sequencing from the Genetic Analysis Workshop 18.

scientific article published on September 2014

Effect of environmental factors and gender on the heritability of bone mineral density and bone size

scientific article published in July 2006

Effect of linkage disequilibrium on the identification of functional variants

scientific article published on January 2011

Effects of covariates: a summary of Group 5 contributions

scientific article published in January 2003

Epigenomic profiling reveals an association between persistence of DNA methylation and metabolic memory in the DCCT/EDIC type 1 diabetes cohort

scientific article published on 09 May 2016

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

scientific article published on 27 April 2020

Erratum: Corrigendum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

scientific article published in Nature Communications

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

article

Evaluating outlier loci and their effect on the identification of pedigree errors.

scientific article

Evaluating the role of epigenetic histone modifications in the metabolic memory of type 1 diabetes.

scientific article published on 23 January 2014

Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data

scientific article

Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method

scientific article published on 01 July 2000

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

scientific article published in August 1998

Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease

scientific article published on 21 January 2009

Evidence of batch effects masking treatment effect in GAW20 methylation data

article

Expanded repeat in canine epilepsy

scientific article

Expression of concern re: Kulminski, A. 2011. Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. Experimental Gerontology. DOI: 10.1016/j.exger.2011.08.010

FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects.

scientific article published on 13 March 2018

Family history of renal disease severity predicts the mutated gene in ADPKD.

scientific article published on 14 May 2009

Family-based association study of IGF1 microsatellites and height, weight, and body mass index

scientific article published on 19 March 2010

Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk.

scientific article published on 20 February 2009

Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE

scientific article published on 06 June 2019

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes

scientific article

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

GRIN1 polymorphisms do not affect susceptibility or phenotype in NMDA receptor encephalitis

scientific article

GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence

scientific article

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

scientific article (publication date: 30 December 2005)

Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation

scientific article

Genetic Determinants of Glycated Hemoglobin in Type 1 Diabetes

scientific article published on 23 January 2019

Genetic Variants Associated with Circulating Parathyroid Hormone

scientific article published on 07 December 2016

Genetic anticipation and breast cancer: a prospective follow-up study.

scientific article published in May 1999

Genetic anticipation: fact or artifact, genetics or epigenetics?

scientific article published in The Lancet

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic determinants of impaired awareness of hypoglycemia in type 1 diabetes

scientific article published on 7 July 2017

Genetic dissection of B cell traits in New Zealand black mice. The expanded population of B cells expressing up-regulated costimulatory molecules shows linkage to Nba2

article

Genetic dissection of B cell traits in New Zealand black mice. The expanded population of B cells expressing up-regulated costimulatory molecules shows linkage to Nba2

scientific article published on 01 February 2000

Genetic dissection of Iddm26 in the spontaneously diabetic BBDP rat

article

Genetic epidemiology of type 1 diabetes

scientific article published in April 2006

Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study

scientific article published in April 2006

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

scientific article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study

scientific article

Genetic variation of 5-HT2A receptor and response to clozapine

scientific article published in The Lancet

Genetic variation of DKK3 may modify renal disease severity in ADPKD.

scientific article

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

scientific article

Genome-Wide Linkage Scan of a Large Family with IgA Nephropathy Localizes a Novel Susceptibility Locus to Chromosome 2q36

scientific article published on 18 July 2007

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

scientific article

Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.

scientific article

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

scientific article published on 28 May 2018

Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes

scientific article

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

scientific article

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

scientific article

Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes

article by Niina Sandholm et al published 5 March 2014 in Diabetologia

Genome-wide linkage analyses of quantitative and categorical autism subphenotypes

scientific article

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

scientific article

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

scientific article

Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure

scientific journal article

Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population

scientific article

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

scientific article

HLA class II haplotypes in Mexican systemic lupus erythematosus patients.

scientific article published in December 2004

Haptoglobin genotype and the rate of renal function decline in the diabetes control and complications trial/epidemiology of diabetes interventions and complications study

scientific article published on 12 June 2013

HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW!

scientific article published on 12 September 2017

High Incidence of Childhood Type 1 Diabetes in the Avalon Peninsula, Newfoundland, Canada

article

High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis

scientific article

How many gay men owe their sexual orientation to fraternal birth order?

scientific article (publication date: February 2002)

IBD Genetic Risk Profile in Healthy First-Degree Relatives of Crohn's Disease Patients

scientific article published on 28 October 2015

IDDM9 and a locus for rheumatoid arthritis on chromosome 3q appear to be distinct.

scientific article published in September 1999

IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy

scientific article published on 6 February 2008

Iddm30 Controls Pancreatic Expression of Ccl11 (Eotaxin) and the Th1/Th2 Balance within the Insulitic Lesions

scientific article published on 19 March 2014

Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association

scientific article published on 12 August 2008

Identification of a novel percent mammographic density locus at 12q24.

scientific article

Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders

scientific article published on July 2011

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS

scientific article published on 15 January 2019

Is there a third gene for autosomal dominant polycystic kidney disease?

scientific article

LDL composition in E2/2 subjects and LDL distribution by Apo E genotype in type 1 diabetes

scientific article published on 05 June 2006

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

scientific article

Letter to the editor: expression of concern, reaffirmed

scientific article published on 24 August 2013

Lifestyle and clinical determinants of skin autofluorescence in a population-based cohort study

scientific article

Long repeat tracts at SCA8 in major psychosis.

scientific article published in December 2000

Long-term haloperidol elevates dopamine D4 receptors by 2-fold in rats

scientific article published on 01 March 1995

Lymphoblastoid Cell Lines as a Tool to Study Inter-Individual Differences in the Response to Glucose

scientific article published on 10 August 2016

Major sex differences in allele frequencies for X chromosomal variants in both the 1000 Genomes Project and gnomAD

scientific article published in 2022

Male sex bias in placental dysfunction.

scientific article

Mammographic breast density and breast cancer: evidence of a shared genetic basis

scientific article

Mammographic breast density as an intermediate phenotype for breast cancer

scientific article

Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry

scientific article published on 25 May 2013

Mammographic density: a heritable risk factor for breast cancer

scientific article published on January 2009

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Measurement equivalence of the autism symptom phenotype in children and youth

scientific article

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

scientific article published on 29 March 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

scientific article

Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative.

scientific article

Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes

scientific article published on 5 February 2018

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

scientific article published on 3 January 2013

Model-Free Linkage Analysis of a Binary Trait.

scientific article published in January 2017

Modulation of Intracellular Cyclic AMP Levels by Different Human Dopamine D4 Receptor Variants ⬇️

scientific article published on September 1, 1995

Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations

scientific article published on 12 December 2007

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation

scientific article

Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance?

scientific article published in January 2003

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

scientific article published on 28 November 2018

Multiple Variants in Vascular Endothelial Growth Factor (VEGFA) Are Risk Factors for Time to Severe Retinopathy in Type 1 Diabetes

scientific article published on 18 May 2007

Multiple linear combination (MLC) regression tests for common variants adapted to linkage disequilibrium structure

scientific article

Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complicat

scientific article published on 03 October 2007

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

scientific article published on 14 May 2010

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

scientific article (publication date: July 2012)

New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins.

scientific article published on 12 April 2016

New susceptibility loci associated with kidney disease in type 1 diabetes

scientific article

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

scientific article

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

scientific article

Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis

scientific article (publication date: March 2003)

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

scientific article

Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.

scientific article

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

scientific article published on 7 October 2014

Oxidized Low-Density Lipoprotein and the Incidence of Proliferative Diabetic Retinopathy and Clinically Significant Macular Edema Determined From Fundus Photographs

scientific article

P4-115 Molecular analysis of the nicastrin promoter SNPS in Alzheimer's disease

scholarly article by Antonio Orlacchio et al published July 2004 in Neurobiology of Aging

PKD3—to be or not to be?

scientific article published on 01 December 1999

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

scientific article

Parameter Expanded Algorithms for Bayesian Latent Variable Modeling of Genetic Pleiotropy Data

scientific article

Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data

scientific article

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene.

scientific article

Phenotype definition and development--contributions from Group 7.

scientific article

Phenotypic and genetic analysis of an adult cohort with extreme obesity

scientific article published on 21 September 2018

Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort

scientific article

Polycystic Kidney Disease without an Apparent Family History

scientific article published on 18 May 2017

Potential mapping of corneal dermoids to Xq24-qter

scientific article published in October 2001

Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia.

scientific article published in June 2001

Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing

article

Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease

scientific article

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

scientific article published on 6 November 2008

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

scientific article

Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease

scientific article published in July 2002

Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity

scientific article published on 10 September 2008

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

scientific article published on 09 October 2015

Relationship of mode of conception and sex concordance with mortality/morbidity in preterm twins

scientific article published on 28 August 2013

Resampling to Address the Winner's Curse in Genetic Association Analysis of Time to Event

scientific article

Risk Factors for Kidney Disease in Type 1 Diabetes

article

Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability

scientific article published on 16 November 2011

Sex of affected sibpairs and genetic linkage to type 1 diabetes.

scientific article published in May 1999

Sex ratio of offspring of diabetics

scientific article published in The Lancet

Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse.

scientific article

Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis

scientific article published on 4 May 2011

Sixth World Congress of Psychiatric Genetics X Chromosome Workshop

scientific article published in June 1999

Sixth World Congress of Psychiatric Genetics X chromosome workshop

article

Skin autofluorescence predicts incident type 2 diabetes, cardiovascular disease and mortality in the general population

scientific article published on 21 November 2018

Skin autofluorescence, a non-invasive biomarker for advanced glycation end products, is associated with the metabolic syndrome and its individual components.

scientific article

Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer

scientific article

Statistical challenges in high-dimensional molecular and genetic epidemiology

scholarly article by Shelley B. Bull et al published 15 November 2017 in Canadian Journal of Statistics

Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies

Strengthening the reporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement

scientific article published on 12 February 2009

The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels

scientific article published on 25 March 2013

The Genetic Landscape of Renal Complications in Type 1 Diabetes

scientific article

The analysis of parental origin of alleles may detect susceptibility loci for complex disorders

scientific article published on July 1999

The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy.

scientific article

The associations of apolipoprotein E and angiotensin-converting enzyme polymorphisms and cognitive function in Type 1 diabetes based on an 18-year follow-up of the DCCT cohort

scientific article

The attitudes of heroin users and matched non-users to drugs and drug users.

scientific article published in October 1991

The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes

scientific article published on 16 March 2017

The effect of intensive diabetes treatment on resting heart rate in type 1 diabetes: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications study

scientific article published on 27 April 2007

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23

scientific article published on 01 February 2004

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

scientific article

The origins of breast cancer associated with mammographic density: a testable biological hypothesis.

scientific article published on 7 March 2018

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

scientific article published on 25 November 2014

The role of Self-Defined Race/Ethnicity in Population Structure Control

article

The unstable trinucleotide repeat story of major psychosis.

scientific article

Thymectomy and radiation-induced type 1 diabetes in nonlymphopenic BB rats

scientific article published in October 2002

To: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905

scientific article published on 13 August 2005

Transmission ratio distortion in females on chromosome 10p11-p15.

scientific article published in December 1999

Tu1744 The Relationship Between Common IBD-Associated Risk Alleles and Intestinal Permeability in a Cohort of Healthy First Degree Relatives of Individuals With Crohn's Disease

Two genetic loci regulate T cell-dependent islet inflammation and drive autoimmune diabetes pathogenesis

scientific article

Type 1 diabetes in the BB rat: a polygenic disease

scientific article published on 23 January 2009

Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin

scientific article published in February 2004

Unified criteria for ultrasonographic diagnosis of ADPKD.

scientific article published on 22 October 2008

Update on chromosomal locations for psychiatric disorders: report of the interim meeting of chromosome workshop chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey, California, October 14-18, 1999.

scientific article published in June 2000

Using a Bayesian latent variable approach to detect pleiotropy in the Genetic Analysis Workshop 18 data

scientific article

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

scientific article published on 29 November 2014

Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes

scientific article published on 30 December 2015

Very high and increasing incidence of type 1 diabetes mellitus in Newfoundland and Labrador, Canada

article

Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies

scientific article

X-Chromosome workshop

X-Linked Glomerulopathy Due to COL4A5 Founder Variant

scientific article published on 29 November 2017

X-chromosome workshop

scientific article published in January 1998

gpart: human genome partitioning and visualization of high-density SNP data by identifying haplotype blocks

scientific article published on 01 November 2019

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