List of works - Nada Al Tassan

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

scientific article

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

scientific article published on 20 May 2015

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24

scientific article

A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits

scientific article published on 28 April 2014

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

scientific article published on 12 December 2013

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

scientific article

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

scientific article published on 01 January 2015

Association of the angiotensinogen gene polymorphism with atherosclerosis and its risk traits in the Saudi population ⬇️

scientific article published on March 11, 2013

Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)

scientific article published on 01 December 2008

Characterizing the morbid genome of ciliopathies. ⬇️

scientific article

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia ⬇️

scientific article published on February 16, 2011

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

scientific article

DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.

scientific article

Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.

scientific article published in January 2002

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

scientific article published on 3 August 2015

Estimating transfection efficiency in differentiated and undifferentiated neural cells

article

Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.

scientific article published on 20 September 2016

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

scientific article

Genetic Study of Alzheimer's Disease in Saudi Population

scientific article published on 01 January 2019

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

scientific article published on 28 September 2017

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

scientific article

Homozygosity analysis in subjects with autistic spectrum disorder.

scientific article published on 22 April 2015

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

scientific article

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

scientific article

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.

scientific article

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

scientific article published on 04 March 2019

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

scientific article

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 yield of targeted sequencing for Glanzmann thrombasthenia patients

scientific article published on 14 February 2019

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

scientific article

Parkinson's Disease in Saudi Patients: A Genetic Study

scientific article published on 14 August 2015

Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer

scientific article published on 01 August 2019

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

scientific article published on March 26, 2013

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

scientific article

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

scientific article published in July 2011

Rare variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

scientific article published on 19 December 2018

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder

scientific article

Screening for hOGG1 S326C variant in normal Saudi population

scientific article published on 01 May 2007

TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution

scientific article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

scientific article published on 18 December 2018

The optic nerve head in congenital fibrosis of the extraocular muscles.

scientific article published on 31 March 2011

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

scientific article

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

scientific article published on 23 February 2016

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

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

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

scientific article

List of works by Nada Al Tassan

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

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

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24

A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis

Association of the angiotensinogen gene polymorphism with atherosclerosis and its risk traits in the Saudi population ⬇️

Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)

Characterizing the morbid genome of ciliopathies. ⬇️

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia ⬇️

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.

Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.

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

Estimating transfection efficiency in differentiated and undifferentiated neural cells

Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.

Expanding the phenome and variome of skeletal dysplasia.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Genetic Study of Alzheimer's Disease in Saudi Population

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

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.

Homozygosity analysis in subjects with autistic spectrum disorder.

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

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.

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 yield of targeted sequencing for Glanzmann thrombasthenia patients

Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

Parkinson's Disease in Saudi Patients: A Genetic Study

Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

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

Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.

Rare variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder

Screening for hOGG1 S326C variant in normal Saudi population

TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

The optic nerve head in congenital fibrosis of the extraocular muscles.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

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

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families