Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.
Jiang R et al.
Biorxiv : the Preprint Server for Biology, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
Ben-Mahmoud A et al.
International Journal of Molecular Sciences, 2024
The genetic landscape of autism spectrum disorder in the Middle Eastern population.
Al-Sarraj Y et al.
Frontiers in Genetics, 2024
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child.
Alfiya F et al.
Journal of Genetics, 2022
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.
Schafer ST et al.
Nature Neuroscience, 2019
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Lin CY et al.
Scientific Reports, 2018
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L et al.
American Journal of Medical Genetics. Part A, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K et al.
American Journal of Medical Genetics. Part A, 2014
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
Salih MA et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Zahrani F et al.
American Journal of Human Genetics, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N et al.
American Journal of Human Genetics, 2013