A5101960267- Protein Degradation and Inhibitors
- Multiple Myeloma Research and Treatments
- RNA Research and Splicing
- Genomics and Rare Diseases
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Connective tissue disorders research
- Agricultural pest management studies
- Algal biology and biofuel production
- Renal and related cancers
- Insect Pest Control Strategies
- Agricultural Practices and Plant Genetics
- Insect-Plant Interactions and Control
- Retinal Diseases and Treatments
- Skin and Cellular Biology Research
- Retinal Development and Disorders
- Molecular Biology Techniques and Applications
- Acute Myeloid Leukemia Research
- Chronic Lymphocytic Leukemia Research
- Tumors and Oncological Cases
- Connexins and lens biology
- Genetic Associations and Epidemiology
Central Arid Zone Research Institute
2020-2023
King Faisal Specialist Hospital & Research Centre
2013-2022
Loxo Oncology at Lilly (United States)
2022
King Fahd Security College
2021
RELX Group (United States)
2020
National Eye Institute
2016
Washington University in St. Louis
2016
Western University
2015
University of Rochester Medical Center
2015
King's College London
2011
Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding molecular basis these genetically heterogeneous conditions; however, our knowledge their morbid genome, pleiotropy, and variable expressivity remains incomplete.We applied genomic approaches on a large patient cohort 371 affected individuals from 265 families, with phenotypes that span entire ciliopathy spectrum. Likely causal mutations previously described genes were...
Objective Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in congenital main or sole clinical feature, 2 X‐linked ( L1CAM and AP1S2 ) autosomal recessive CCDC88C MPDZ ). In this study, we aimed determine genetic etiology familial with assumption that these cases represent forms disease. Methods Exome sequencing combined, where applicable, positional mapping. Results We...
Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source homozygous variants, has been successfully utilized for high throughput identification novel autosomal recessive disease genes. Here, we highlight utility autozygome confirmation previously published tentative to diseases.Autozygome exome analysis patients with suspected phenotypes. All were classified according American College Medical Genetics Genomics...
Abstract Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute this fraction is unclear. Whole transcriptome a promising supplement WES, although empirical data on contribution RNA analysis diagnosis diseases large scale scarce. Results Here, we describe our experience transcript-deleterious (TDVs) based cohort 5647 families diseases. We...
Microphthalmia is a developmental eye defect that highly variable in severity and its potential for systemic association. Despite the discovery of many disease genes microphthalmia, at least 50% patients remain undiagnosed genetically. Here, we describe cohort 147 (93 families) from our consanguineous population with various forms microphthalmia (including distinct entity posterior microphthalmos) were investigated using next‐generation sequencing multi‐gene panel (i‐panel) as well whole...
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice form a heterogeneous group of degenerative disorders that classified either as pure spastic or complex with additional neurological signs. Inheritance is autosomal dominant recessive. Hypomyelinating features on MRI sometimes seen ataxia, but this usually mild adults severe life limiting children. We report seven individuals an early-onset spastic-ataxia phenotype. The come from three...
We describe the third family in world, after Arabian and Turkish ones, displaying an autosomal recessive autoimmune disease (AID), mimicking systemic lupus erythematosus (SLE), with unusual manifestations due to a homozygous frame-shift variant DNASE1L3. SLE is complex AID characterized by multiple organ involvement. Genetic risk variants identified account for only 15% of heritability. Rare Mendelian forms have been reported, including DNASE1L3-related SLE. Through specific genetic tests we...
Copy number variation is an important dimension of genetic diversity and has implications in development disease. As model organism, the mouse a prime candidate for copy variant (CNV) characterization, but this yet to be completed large sample size. Here we report CNV analysis publicly available, high-density microarray data files 351 tail samples, including 290 mice that had not been characterized CNVs previously. We found 9634 putative autosomal across samples affecting 6.87 % reference...
Microtubule actin crosslinking factor 1 (MACF1) plays a role in the coordination of microtubules and multiple cellular processes. Here, we show that MACF1 is also critical for ciliogenesis cell types. Ablation Macf1 developing retina abolishes ciliogenesis, basal bodies fail to dock ciliary vesicles or migrate apically. Photoreceptor polarity randomized, while inner retinal cells laminate correctly, suggesting photoreceptor maturation guided by cues provided cilia. Deletion adult...
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans. Only 2 patients date have been reported recessive as the likely of their phenotype. Here, we confirm inheritance novel 5 children from 3 families with developmental epileptic encephalopathy. The and early death these is consistent Dravet‐like phenotype observed Scn1b −/− mice. ‘negative’ clinical exome one highlights need consider interpretation variants typically dominant genes.