selected publications
- The biomedical landscape of genomic structural variation in the qatari population. Nature communications. 2026 Academic Article GET IT
- Ratio-Driven Lipoprotein Mapping Refines Genetic Pathways of Cardiometabolic Risk. 2026 GET IT
- ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis. Proceedings of the National Academy of Sciences of the United States of America. 2024 Academic Article GET IT
-
Loss of the TRPM4 channel in humans causes immune dysregulation with defective monocyte migration.
2024
GET IT
Times cited: 4 -
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.
2023
GET IT
Times cited: 1 - The Preventive Effects of Salubrinal against Pyrethroid-Induced Disruption of Adult Hippocampal Neurogenesis in Mice. International journal of molecular sciences. 2023 Academic Article GET IT
-
Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.
Human molecular genetics.
2023
Academic Article
GET IT
Times cited: 28 -
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Cell genomics.
2022
Academic Article
GET IT
Times cited: 8 -
Detection of infiltrating fibroblasts by single-cell transcriptomics in human kidney allografts.
PloS one.
2022
Academic Article
GET IT
Times cited: 26 -
Ratios of Acetaminophen Metabolites Identify New Loci of Pharmacogenetic Relevance in a Genome-Wide Association Study.
Metabolites.
2022
Academic Article
GET IT
Times cited: 6 -
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
2021
GET IT
Times cited: 25 - Deep sequencing of DNA from urine of kidney allograft recipients to estimate donor/recipient-specific DNA fractions. PloS one. 2021 Academic Article GET IT
-
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits.
Nature communications.
2021
Academic Article
GET IT
Times cited: 60 -
Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization.
European journal of human genetics : EJHG.
2020
Academic Article
GET IT
Times cited: 6 -
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Proceedings of the National Academy of Sciences of the United States of America.
2019
Academic Article
GET IT
Times cited: 28 -
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Science immunology.
2018
Academic Article
GET IT
Times cited: 165 -
Single nucleotide variant counts computed from RNA sequencing and cellular traffic into human kidney allografts.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.
2018
Academic Article
GET IT
Times cited: 11 -
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
2018
GET IT
Times cited: 10 -
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
2017
GET IT
Times cited: 127 -
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
2017
GET IT
Times cited: 125 -
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Cell.
2017
Academic Article
GET IT
Times cited: 72 -
Exome and genome sequencing for inborn errors of immunity.
The Journal of allergy and clinical immunology.
2016
Review
GET IT
Times cited: 181 -
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.
The Journal of experimental medicine.
2016
Academic Article
GET IT
Times cited: 111 -
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Nature genetics.
2016
Academic Article
GET IT
Times cited: 305 -
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Proceedings of the National Academy of Sciences of the United States of America.
2016
Academic Article
GET IT
Times cited: 51 -
A genome-wide association study of pulmonary tuberculosis in Morocco.
Human genetics.
2016
Academic Article
GET IT
Times cited: 59 -
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proceedings of the National Academy of Sciences of the United States of America.
2015
Academic Article
GET IT
Times cited: 202 -
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
Science (New York, N.Y.).
2015
Academic Article
GET IT
Times cited: 377 -
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
2015
GET IT
Times cited: 238 -
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.
The Journal of experimental medicine.
2015
Academic Article
GET IT
Times cited: 172 -
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Proceedings of the National Academy of Sciences of the United States of America.
2015
Academic Article
GET IT
Times cited: 518 -
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
2014
GET IT
Times cited: 21 -
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
Immunity.
2013
Academic Article
GET IT
Times cited: 258