Authors

• Rawan Alanazi (ORCID: https://orcid.org/0000-0003-4298-0206)
• Yousef Housawi
• Mohamed Alzawahmah (ORCID: https://orcid.org/0000-0002-2054-7391)
• Aziza Mufareh Mushiba (ORCID: https://orcid.org/0000-0001-5795-6423)
• Bader Alghamdi (ORCID: https://orcid.org/0000-0001-5701-0216)
• Enam Danish
• Fuad Al Mutairi (ORCID: https://orcid.org/0000-0002-7780-8863)
• Farouq Ababneh
• Ohoud Alzahrani
• Khadijah Bakur (ORCID: https://orcid.org/0000-0002-0668-1762)
• Jameela A. Kari (ORCID: https://orcid.org/0000-0001-7628-8926)
• Bashayer S. Alawam (ORCID: https://orcid.org/0000-0002-8759-0255)
• Abdulrahman Alsultan (ORCID: https://orcid.org/0000-0001-5577-3228)
• Mohammed Mahnashi (ORCID: https://orcid.org/0000-0003-0263-5301)
• Aiman Shawli (ORCID: https://orcid.org/0000-0003-4237-5137)
• Norah Alsaleh (ORCID: https://orcid.org/0000-0003-4381-7929)
• Amaal AlDakheel (ORCID: https://orcid.org/0000-0002-9497-2462)
• Mohammed Almannai (ORCID: https://orcid.org/0000-0001-7098-9879)
• Wael Alqarawi (ORCID: https://orcid.org/0000-0001-5324-6993)
• Hamad Alzaidan
• Mohammed Ali Tohary
• Ahmed Mohammed Alfaidi
• Wed Majdali
• Maha Alotaibi (ORCID: https://orcid.org/0000-0002-2083-4489)
• Hussein Algahtani (ORCID: https://orcid.org/0000-0001-9484-9838)
• Hadeel Al Rukban
• Wail Ba-Alawi (ORCID: https://orcid.org/0000-0002-2747-4703)
• Fahad Alobaid
• Ali Alshehri (ORCID: https://orcid.org/0009-0007-2647-6719)
• Amal Alhashem (ORCID: https://orcid.org/0000-0002-9668-7809)
• Bader Alhaddad (ORCID: https://orcid.org/0000-0003-4542-5267)
• Majid Alfadhel (ORCID: https://orcid.org/0000-0002-9427-7240)
• Abdulrahman Alswaid (ORCID: https://orcid.org/0000-0002-2820-4406)
• Omnia Ahmed Abdulaty
• Lama AlAbdi (ORCID: https://orcid.org/0000-0001-8177-4048)
• Touati Benoukraf (ORCID: https://orcid.org/0000-0002-4789-8028)
• Rola Ba‐Abbad (ORCID: https://orcid.org/0000-0002-6301-2899)
• Zohor Azher (ORCID: https://orcid.org/0009-0004-2672-5496)
• Raashda A. Sulaiman (ORCID: https://orcid.org/0000-0002-6868-9823)
• Wafaa Eyaid (ORCID: https://orcid.org/0000-0003-3442-7136)
• Saeed Al Tala
• Talal Alanzi
• Iram Alluhaydan
• Mohammed A AlHajji
• Afaf Alsagheir (ORCID: https://orcid.org/0000-0002-1844-4377)
• Ali Awaji
• Saeed Bohlega (ORCID: https://orcid.org/0000-0002-1046-6571)
• Dia A. Mohammed
• Nouriya Al‐Sannaa (ORCID: https://orcid.org/0000-0002-0828-7443)
• Abdulaziz Baazeem
• Deema Aljeaid (ORCID: https://orcid.org/0000-0002-0343-6083)
• Mai Labani
• Eissa Faqeih (ORCID: https://orcid.org/0000-0002-3123-1704)
• Basamat Almoallem (ORCID: https://orcid.org/0000-0002-0266-4500)
• Ghadah Gosadi
• Fowzan Sami Alkuraya (ORCID: https://orcid.org/0000-0003-4158-341X)
• Abdulrahman Hummadi (ORCID: https://orcid.org/0000-0002-5294-4439)
• Dalal Bubshait (ORCID: https://orcid.org/0000-0002-7498-698X)
• Fahad Hakami
• Farjah Alqahtani
• Salwani Abdullah (ORCID: https://orcid.org/0000-0003-0037-841X)
• Ali Alasmari (ORCID: https://orcid.org/0000-0002-0374-1520)
• Halima Hamid (ORCID: https://orcid.org/0000-0002-4572-4569)
• Omar Yousef (ORCID: https://orcid.org/0009-0008-4161-6895)
• Sarar Mohamed
• Ahmed Alaskar
• Abdulrahman AlTahan
• Abdullah Abdulqader H Alamri
• Mohammed Al‐Owain
• Malak Al Ghamdi
• Muneera Alshammari
• Ahmad A Al-Boukai
• Mona A. Fouda
• Mohammed A. Almuqbil
• Nizar Algarni
• Mais Hashem
• Firdous Abdulwahab
• Alyazeed Turkistani
• Ali Almontasheri
• Ahmed AlBadawi
• Basma Zahid
• Elham Bagrayn
• Moayed Aljack
• Mohd Elsunni
• Saud Abu-Harbesh
• Zainab AlArfaj

Institutions

• Princess Nourah bint Abdulrahman University (SA)
• Memorial University of Newfoundland (CA)
• Riyadh Armed Forces Hospital (SA)
• Alfaisal University (SA)
• King Abdulaziz University (SA)
• King Saud bin Abdulaziz University for Health Sciences (SA)
• Umm al-Qura University (SA)
• Saudi Aramco Medical Services Organization (SA)
• King Faisal Specialist Hospital & Research Centre (SA)
• King Saud Medical City (SA)
• King Fahd Hospital of the University (SA)
• King Saud University (SA)
• King Fahad Specialist Hospital (SA)
• King Abdulaziz Medical City (SA)
• National University (SD)
• King Abdullah International Medical Research Center (SA)
• King Khaled Eye Specialist Hospital (SA)
• University of Jeddah (SA)
• Saudi Heart Association (SA)
• King Fahd Armed Forces Hospital (SA)
• King Salman Center for Disability Research (SA)
• Prince Mohammed bin Abdulaziz Hospital (SA)
• King Abdul Aziz University Hospital (SA)
• Armed Forces Hospital (SA)
• King Abdulaziz Hospital (SA)
• Saudi Arabia Basic Industries (Saudi Arabia) (SA)
• King Khalid University Hospital (SA)
• Children's Specialized Hospital (US)
• National Guard Health Affairs (SA)
• Imam Abdulrahman Bin Faisal University (SA)

Publication Details

Journal

Genome Medicine

Published

2025-09-29

DOI

https://doi.org/10.1186/s13073-025-01529-2

Citations

4

Primary Topic

Genomics and Rare Diseases

Type

article

Field-Weighted Citation Impact

7.27

Funders

• King Faisal Specialist Hospital and Research Centre
• King Saud University
• King Abdulaziz University
• Memorial University of Newfoundland
• Umm Al-Qura University
• King Khalid University
• King Khaled Eye Specialist Hospital
• Ministry of National Guard Health Affairs
• Imam Abdulrahman Bin Faisal University
• University of Jeddah
• King Salman Center for Disability Research
• King Saud bin Abdulaziz University for Health Science
• Faculty of Medicine, Memorial University of Newfoundland