A. Al Tuwaijri

发表

Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells

C. Laprise, A. Naumova, S. Rousseau, 2017, PloS one.

Current status of the molecular genetics of hepatitis C virus and its utilization in the diagnosis of infection.

E. Kurstak, A. Hossain, C. Kurstak, 1995, Clinical and diagnostic virology.

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Muhammad Umair, M. Alfadhel, M. Al-Owain, 2021, Molecular Syndromology.

Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population

C. Laprise, A. Naumova, A. Madore, 2015, Journal of Medical Genetics.

Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma

C. Laprise, A. Naumova, H. Kohan-Ghadr, 2013, Human Genetics.

Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines

T. Pastinen, D. Sinnett, D. Verlaan, 2012, Human Genetics.

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature

M. Alfadhel, A. Al Tuwaijri, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma

C. Laprise, A. Naumova, H. Kohan-Ghadr, 2013, Human Genetics.

Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines

T. Pastinen, D. Sinnett, D. Verlaan, 2012, Human Genetics.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

C. Laprise, F. Martínez, C. Greenwood, 2018, Biology of Sex Differences.

The diagnostic yield of CGH and WES in neurodevelopmental disorders

A. Alfares, Maaged A Akiel, Mashael Almutairi, 2023, Frontiers in Pediatrics.

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Bahauddeen M. Alrfaei, Muhammad Umair, M. Alfadhel, 2021, Genes.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

R. Hoehndorf, Azza Althagafi, Muhammad Umair, 2020, Clinical genetics.

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

Muhammad Umair, M. Alfadhel, Bader Almuzzaini, 2020, Annals of clinical and translational neurology.

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

M. Alfadhel, Q. Alam, Mashael Alharbi, 2022, Frontiers in Genetics.

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

Muhammad Umair, M. Alfadhel, M. Wadaan, 2021, Frontiers in Cell and Developmental Biology.

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

M. Alfadhel, Q. Alam, Mashael Alharbi, 2022, Molecular genetics & genomic medicine.

Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

Muhammad Umair, M. Alfadhel, Q. Alam, 2021, Frontiers in Genetics.

A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice.

M. Alfadhel, F. Al Mutairi, A. Al Tuwaijri, 2023, Clinical chemistry.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

C. Laprise, F. Martínez, C. Greenwood, 2018, Biology of Sex Differences.

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

M. Alfadhel, S. Abbas, Bashaer Almahdi, 2022, Frontiers in Genetics.