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Fowzan S. Alkuraya

Fowzan S. Alkuraya

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Genetics
Saudi Arabia
2026
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Genetics and Molecular Biology
Saudi Arabia
2024

D-Index & Metrics

Genetics

D-Index
92
Citations
30390
World Ranking
1003
National Ranking
2

Medicine

D-Index
93
Citations
31073
World Ranking
10909
National Ranking
2

Research.com Recognitions

  • 2026 - Research.com Genetics in Saudi Arabia Leader Award
  • 2025 - Research.com Genetics in Saudi Arabia Leader Award
  • 2024 - Research.com Genetics in Saudi Arabia Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Saudi Arabia Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Saudi Arabia Leader Award
  • 2020 - Curt Stern Award, American Society of Human Genetics

Overview

Fowzan S. Alkuraya is affiliated with Alfaisal University in Saudi Arabia and has published extensively in the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their research contributions span multiple subfields, including Genetics, Molecular Biology, Cell Biology, Surgery, and Pediatrics, Perinatology and Child Health.

Their work primarily focuses on topics related to Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Genetic and Kidney Cyst Diseases, and RNA regulation and disease.

Alkuraya has published several notable papers, including:

  • Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans, 2021, New England Journal of Medicine
  • The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources, 2022, Genetics in Medicine
  • A dyadic approach to the delineation of diagnostic entities in clinical genomics, 2021, The American Journal of Human Genetics
  • The morbid genome of ciliopathies: an update, 2020, Genetics in Medicine
  • Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics, 2020, Genome Biology

The venues where Alkuraya has frequently published include Genetics in Medicine, bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, American Journal of Medical Genetics Part A, and Human Genetics. These journals reflect the focus on human genetics and genomic medicine in their research.

Frequent collaborators in Alkuraya's work include Mais Hashem, Lama AlAbdi, Sateesh Maddirevula, Reza Maroofian, and Henry Houlden, indicating a network of scientific partnerships contributing to their research output.

In recognition of their contributions, Alkuraya was awarded the Curt Stern Award by the American Society of Human Genetics in 2020.

Best Publications

  • 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

  • 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

  • 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

  • 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

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

    Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  • 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

  • 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

  • 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

  • The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Dorota Monies;Mohamed Abouelhoda;Moeenaldeen AlSayed;Zuhair Alhassnan

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

    Caroline Rooryck;Anna Diaz-Font;Daniel P S Osborn;Elyes Chabchoub

  • SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate

    Fowzan S. Alkuraya;Irfan Saadi;Jennifer J. Lund;Annick Turbe-Doan

  • Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

    Jose Morales;Latifa Al-Sharif;Dania S. Khalil;Jameela M.A. Shinwari

  • Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

    Nicola G. Ghazi;Emad B. Abboud;Sawsan R. Nowilaty;Hisham Alkuraya

  • Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Fowzan S. Alkuraya;Xuyu Cai;Xuyu Cai;Carina Emery;Ganeshwaran H. Mochida;Ganeshwaran H. Mochida

  • An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

    Gabrielle Wheway;Miriam Schmidts;Dorus A. Mans;Katarzyna Szymanska

  • Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Dorota Monies;Mohammed Abouelhoda;Mirna Assoum;Nabil Moghrabi

  • CPAP promotes timely cilium disassembly to maintain neural progenitor pool

    Elke Gabriel;Arpit Wason;Anand Ramani;Li Ming Gooi

  • Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

    S Anazi;S Maddirevula;E Faqeih;H Alsedairy

  • 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;Ulla Sovio

Frequent Co-Authors

Ranad Shaheen
Ranad Shaheen King Faisal Specialist Hospital & Research Centre
Eissa Faqeih
Eissa Faqeih King Fahd Medical City
Mustafa A. Salih
Mustafa A. Salih King Saud University
Stefan T. Arold
Stefan T. Arold King Abdullah University of Science and Technology
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Cynthia C. Morton
Cynthia C. Morton Brigham and Women's Hospital
Henry Houlden
Henry Houlden University College London
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Richard L. Maas
Richard L. Maas Brigham and Women's Hospital
Clare V. Logan
Clare V. Logan University of Edinburgh

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