Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Cystic Fibrosis Research Advances, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Genetic Associations and Epidemiology.
Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
Patterns of somatic structural variation in human cancer genomes
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
Genomic footprints of activated telomere maintenance mechanisms in cancer
Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies
Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
<i>PATJ</i> Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches
Dose and time effects of solar‐simulated ultraviolet radiation on the <i>in vivo</i> human skin transcriptome
Human Early Life Exposome (HELIX) study: a European population-based exposome cohort
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications
Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility
Mutations in DCHS1 cause mitral valve prolapse
<i>HLA-DRB1*11</i>and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis
Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor