List of works - Brian F Meyer

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

scientific article published on 18 April 2013

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 20 May 2015

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

scientific article

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

scientific article published in December 2011

A pressure overload model to track the molecular biology of heart failure.

scientific article published in December 2003

A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease

scientific article published on 09 September 2009

Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma.

scientific article

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

scientific article published on 01 February 2009

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

scientific article published on 26 August 2008

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

scientific article published in January 2012

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

scientific article

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

scientific article

Characterization of CTNS mutations in Arab patients with cystinosis

scientific article published in December 2009

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

scientific article

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

scientific article

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

scientific article published on 21 November 2011

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana

scientific article published on 01 September 2006

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation

scientific article published in April 2008

Developing a computer touch-screen interactive colorectal screening decision aid for a low-literacy African American population: lessons learned.

scientific article

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

scientific article published on 3 August 2015

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.

scientific article published in September 2006

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

scientific article

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

scientific article published in February 2008

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease

scientific article published on 16 June 2009

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

scientific article

Identification of the tetraspanin CD82 as a new barrier to xenotransplantation.

scientific article published on 19 July 2013

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

scientific article published in January 2008

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

scientific article published on 01 April 2012

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

scientific article

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

scientific article

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

scientific article

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population

scientific article

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.

scientific article published on 05 June 2013

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

scientific article

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

scientific article

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

scientific article published on 01 July 2006

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

scientific article published on 01 January 2006

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

scientific article published on 2 August 2011

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs)

scientific article published on 01 March 2002

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

scientific article published on 15 October 2007

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2

scientific article published on 20 March 2012

Skin-homing CD8+ T lymphocytes show preferential growth in vitro and suppress CD4+ T-cell proliferation in patients with early stages of cutaneous T-cell lymphoma.

scientific article

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

scientific article

The enhanced S-cone syndrome in children.

scientific article published on 8 May 2009

The enhanced S-cone syndrome in children.

scientific article published on March 2007

The peroxisome proliferator-activated receptor-gamma2 P12A polymorphism and type 2 diabetes in an Arab population

scientific article published on 01 January 2006

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

scientific article

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population

scientific article

List of works by Brian F Meyer

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

A pressure overload model to track the molecular biology of heart failure.

A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease

Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma.

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

Associations of autozygosity with a broad range of human phenotypes

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Characterization of CTNS mutations in Arab patients with cystinosis

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation

Developing a computer touch-screen interactive colorectal screening decision aid for a low-literacy African American population: lessons learned.

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

Identification of the tetraspanin CD82 as a new barrier to xenotransplantation.

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

Novel mutations underlying nephrogenic diabetes insipidus in Arab families

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs)

Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2

Skin-homing CD8+ T lymphocytes show preferential growth in vitro and suppress CD4+ T-cell proliferation in patients with early stages of cutaneous T-cell lymphoma.

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

The enhanced S-cone syndrome in children.

The enhanced S-cone syndrome in children.

The peroxisome proliferator-activated receptor-gamma2 P12A polymorphism and type 2 diabetes in an Arab population

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population