2022 - Research.com Genetics and Molecular Biology in Saudi Arabia Leader Award
2020 - Curt Stern Award, American Society of Human Genetics
His primary scientific interests are in Genetics, Exome sequencing, Exome, Consanguinity and Mutation. His research in Candidate gene, Phenotype, Genetic heterogeneity, Ciliopathy and Gene are components of Genetics. His Exome sequencing research is multidisciplinary, incorporating elements of Mutation, Allele, Molecular genetics, Sequence analysis and Mendelian inheritance.
His work deals with themes such as Ichthyosis, LRBA, Microcephaly, Severe combined immunodeficiency and Haplotype, which intersect with Exome. His Consanguinity study also includes fields such as
Fowzan S. Alkuraya spends much of his time researching Genetics, Exome sequencing, Phenotype, Mutation and Exome. His study in Genetics concentrates on Gene, Genetic heterogeneity, Missense mutation, Consanguinity and Candidate gene. His research in Genetic heterogeneity intersects with topics in Ciliopathy and Human genetics.
His Exome sequencing research is multidisciplinary, relying on both Bioinformatics, Disease, Microcephaly, Locus and Mendelian inheritance. His work in Phenotype is not limited to one particular discipline; it also encompasses Intellectual disability. Exome and Allele are commonly linked in his work.
His main research concerns Genetics, Phenotype, Exome sequencing, Gene and Intellectual disability. His work in Missense mutation, Mendelian inheritance, Microcephaly, Mutation and Allele are all subfields of Genetics research. The study incorporates disciplines such as Cilium and Cohort in addition to Phenotype.
He has researched Exome sequencing in several fields, including Candidate gene, Genetic heterogeneity, Human genetics and Short stature. His research integrates issues of Bioinformatics, Global developmental delay, Disease, Pediatrics and Epilepsy in his study of Intellectual disability. The Disease study combines topics in areas such as Human Phenotype Ontology and Computational biology.
Fowzan S. Alkuraya mainly investigates Genetics, Exome sequencing, Phenotype, Gene and Allele. His work on Genetics deals in particular with Missense mutation, Mendelian inheritance, Human genetics, Mutation and TRNA modification. Particularly relevant to Exome is his body of work in Exome sequencing.
His research investigates the connection between Exome and topics such as Candidate gene that intersect with problems in Genomics and CENPF. Fowzan S. Alkuraya focuses mostly in the field of Phenotype, narrowing it down to topics relating to Cilium and, in certain cases, Computational biology. Fowzan S. Alkuraya has included themes like Speech delay and Cerebellar atrophy in his Gene study.
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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Anas M. Alazami;Nisha Patel;Hanan E. Shamseldin;Shamsa Anazi.
Cell Reports (2015)
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
Sulaiman M Al-Mayouf;Asma Sunker;Reem Abdwani;Safiya Al Abrawi.
Nature Genetics (2011)
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Momoko Horikoshi;Hanieh Yaghootkar;Dennis O. Mook-Kanamori;Dennis O. Mook-Kanamori;Ulla Sovio;Ulla Sovio.
Nature Genetics (2013)
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley.
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Eric M Scott;Anason Halees;Yuval Itan;Emily G Spencer;Emily G Spencer;Emily G Spencer.
Nature Genetics (2016)
SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate
Fowzan S. Alkuraya;Irfan Saadi;Jennifer J. Lund;Annick Turbe-Doan.
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
Abdullah Alangari;Abdulrahman Alsultan;Nouran Adly;Michel J. Massaad.
The Journal of Allergy and Clinical Immunology (2012)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh;May Alrashed;May Alrashed;Shamsa Anazi;Hisham Alkuraya.
Genome Research (2013)
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck;Anna Diaz-Font;Daniel P S Osborn;Elyes Chabchoub.
Nature Genetics (2011)
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Julia Wallmeier;Dalal A Al-Mutairi;Chun-Ting Chen;Niki Tomas Loges.
Nature Genetics (2014)
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