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Fowzan S. Alkuraya | Researchclopedia

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Fowzan S. Alkuraya

Alfaisal University ORCID

811

Works

29,317

Citations

88

h-index

461

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Affiliations

University of North Texas2012–2012

Brigham and Women's Hospital2006–2020

King Abdulaziz City for Science and Technology2014–2021

Boston Children's Hospital2004–2009

National Institutes of Health2020–2020

Top Works

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Sulaiman M. Al‐Mayouf,Asma Sunker,et al.

2011469 citations

RNA modifications and cancer

Genetic and Kidney Cyst Diseases

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami,Nisha Patel,et al.

2014467 citations

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott,Ana Rath,et al.

2017444 citations

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Eric Scott,Anason Halees,et al.

2016386 citations

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin,Harrison Brand,et al.

2016350 citations

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

Momoko Horikoshi,Hanieh Yaghootkar,et al.

2012318 citations

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Julia Wallmeier,Dalal A. Al-Mutairi,et al.

2014293 citations

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Leen Abu‐Safieh,May Alrashed,et al.

2012280 citations

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck,Anna Dı́az-Font,et al.

2011257 citations