Prospect of genetic disorders in Saudi Arabia

por Alqahtani, Amerh S., Alotibi, Raniah S., Aloraini, Taghrid, Almsned, Fahad, Alassali, Yara, Alfares, Ahmed, Alhaddad, Bader, Al Eissa, Mariam M.
Publicado 2023

Reclassifying variations of unknown significance in diseases affecting Saudi Arabia’s population reveal new associations

por Al Eissa, Mariam M., Alotibi, Raniah S., Alhaddad, Bader, Aloraini, Taghrid, Samman, Manar S., AlAsiri, Abdulrahman, Abouelhoda, Mohamed, AlQahtani, Amerh S.
Publicado 2023

DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning

por Althagafi, Azza, Alsubaie, Lamia, Kathiresan, Nagarajan, Mineta, Katsuhiko, Aloraini, Taghrid, Al Mutairi, Fuad, Alfadhel, Majid, Gojobori, Takashi, Alfares, Ahmad, Hoehndorf, Robert
Publicado 2021

Common disease-associated gene variants in a Saudi Arabian population

por Aleissa, Mariam, Aloraini, Taghrid, Alsubaie, Lamia Fahad, Hassoun, Madawi, Abdulrahman, Ghada, Swaid, Abdulrahman, Eyaid, Wafa Al, Mutairi, Fuad Al, Ababneh, Faroug, Alfadhel, Majid, Alfares, Ahmed
Publicado 2022

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

por Umair, Muhammad, Ballow, Mariam, Asiri, Abdulaziz, Alyafee, Yusra, al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Aloraini, Taghrid, Abdelhakim, Marwa, Althagafi, Azza Thamer, Kafkas, Senay, Alsubaie, Lamia, Alrifai, Muhammad Talal, Hoehndorf, Robert, Alfares, Ahmed, Alfadhel, Majid
Publicado 2020

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

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

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

por Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, Alfadhel, Majid
Publicado 2020