Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research interests include Genomics and Rare Diseases, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, and RNA modifications and cancer.
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
The DNA damage repair landscape in Black women with breast cancer
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
POT1 Regulates Proliferation and Confers Sexual Dimorphism in Glioma
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Human genome meeting 2016
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Molecular diagnostic experience of whole-exome sequencing in adult patients
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
2nd Genetics Conference: Genetics in developing countries, unique challenges and opportunities : Sultan Qaboos University, 9–11 March 2014
Sultan Qaboos University medical journal 2014cited by 0position: middle
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome