Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

by Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel, Majid Alfadhel
Published 2021-02-01

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

by Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Published 2018-02-01

A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure

by Ahmed Al Sarkhy, Areej Al-Sunaid, Ahmad Abdullah, Majid AlFadhel, Wafa Eiyad
Published 2014-03-01

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

by Muhammad Younus, Muhammad Younus, Farooq Ahmad, Erum Malik, Muhammad Bilal, Mehran Kausar, Mehran Kausar, Safdar Abbas, Shabnam Shaheen, Mohib Ullah Kakar, Majid Alfadhel, Majid Alfadhel, Muhammad Umair, Muhammad Umair
Published 2019-01-01

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

by Muhammad Umair, Muhammad Umair, Amjad Khan, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Majid Alfadhel, Farooq Ahmad
Published 2019-08-01

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

by Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit
Published 2019-07-01

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish

by Muhammad Umair, Muhammad Farooq Khan, Mohammed Aldrees, Marwan Nashabat, Kheloud M. Alhamoudi, Kheloud M. Alhamoudi, Muhammad Bilal, Yusra Alyafee, Abeer Al Tuwaijri, Manar Aldarwish, Ahmed Al-Rumayyan, Hamad Alkhalaf, Mohammad A. M. Wadaan, Majid Alfadhel, Majid Alfadhel
Published 2021-10-01

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency

by Nada Aljassim, MD, FCCP, Majid Alfadhel, MD, MHSc, SSC-Ped, ABHS(CH), FCCMG, Marwan Nashabat, MD, Wafa Eyaid, MD, FACMG
Published 2020-12-01

PRUNE Syndrome Is a New Neurodevelopmental Disorder

by Majid Alfadhel MD, FCCMG, Marwan Nashabat MD, Khalid Hundallah MD, Amal Al Hashem MD, Ahmed Alrumayyan MD, Brahim Tabarki MD
Published 2018-01-01

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang
Published 2019-10-01

Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells

by Ahmad Alfares, Ahmad Alfares, Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Ahmed Mujamammi, Batoul Alotaibi, Batoul Alotaibi, Sarah Albahkali, Sarah Albahkali, Mohammed Al Balwi, Mohammed Al Balwi, Mohammed Al Balwi, Hicham Benabdelkamel, Afshan Masood, Rizwan Ali, Rizwan Ali, Amani Almuaysib, Amani Almuaysib, Saeed Al Mahri, Saeed Al Mahri, Sameer Mohammad, Sameer Mohammad, Ibrahim O. Alanazi, Assim Alfadda, Saleh AlGhamdi, Saleh AlGhamdi, Bahauddeen M. Alrfaei, Bahauddeen M. Alrfaei
Published 2020-01-01

Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

by Yusra Alyafee, Qamre Alam, Abeer Al Tuwaijri, Muhammad Umair, Shahad Haddad, Meshael Alharbi, Hayat Alrabiah, Maha Al-Ghuraibi, Sahar Al-Showaier, Majid Alfadhel
Published 2021-03-01

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

by Kheloud M. Alhamoudi, Tlili Barhoumi, Hamad Al-Eidi, Abdulaziz Asiri, Marwan Nashabat, Manal Alaamery, Masheal Alharbi, Yazeid Alhaidan, Brahim Tabarki, Muhammad Umair, Majid Alfadhel
Published 2021-06-01

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay

by Abdulaziz Asiri, Essra Aloyouni, Muhammad Umair, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M. Alhamoudi, Bader Almuzzaini, Abeer Al Baz, Deemah Alwadaani, Marwan Nashabat, Majid Alfadhel
Published 2020-06-01

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

by Fuad Al Mutairi, Randa Alkhalaf, Abdullah Alkhorayyef, Fayhan Alroqi, Alyafee Yusra, Muhammad Umair, Fetaini Nouf, Amjad Khan, Alharbi Meshael, Aleidi Hamad, Alaujan Monira, Abdulaziz Asiri, Kheloud M. Alhamoudi, Majid Alfadhel
Published 2020-05-01

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control...

by Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel
Published 2019-06-01

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

by Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki
Published 2021-05-01

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

by Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed
Published 2019-03-01

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

by William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Published 2021-02-01

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

by Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman A. AlMohaimeed, Maher A. Almashary, Wardah Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al‐Odaib, Waleed Altwaijri, Ahmed Al‐Rumayyan, Muhammad T. Alrifai, Ahmed Alfares, Mohammed AlBalwi, Brahim Tabarki
Published 2019-10-01