Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

por Al Tuwaijri, Abeer, Alyafee, Yusra, Alharbi, Mashael, Ballow, Maryam, Aldrees, Mohammed, Alam, Qamre, Sleiman, Rola A., Umair, Muhammad, Alfadhel, Majid
Publicado 2022

Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines

por Berlivet, Soizik, Moussette, Sanny, Ouimet, Manon, Verlaan, Dominique J., Koka, Vonda, Al Tuwaijri, Abeer, Kwan, Tony, Sinnett, Daniel, Pastinen, Tomi, Naumova, Anna K.
Publicado 2012

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

por Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid
Publicado 2020

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

por Al Hawsawi, Khalid, Al Jabri, Mazin, Dajam, Mazen S., Almahdi, Bashaer, Alhawsawi, Waseem K., Abbas, Safdar, Al Tuwaijri, Abeer, Umair, Muhammad, Alfadhel, Majid, Al-Khenaizan, Sultan
Publicado 2022

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

por Alyafee, Yusra, Al Tuwaijri, Abeer, Alam, Qamre, Umair, Muhammad, Haddad, Shahad, Alharbi, Mashael, Ballow, Maryam, Al Drees, Mohammed, AlAbdulrahman, Abdulkareem, Al Khaldi, Aziza, Alfadhel, Majid
Publicado 2021

Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells

por Moussette, Sanny, Al Tuwaijri, Abeer, Kohan-Ghadr, Hamid-Reza, Elzein, Samar, Farias, Raquel, Bérubé, Julie, Ho, Bianca, Laprise, Catherine, Goodyer, Cynthia G., Rousseau, Simon, Naumova, Anna K.
Publicado 2017

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype

por Al Tuwaijri, Abeer, Alyafee, Yusra, Umair, Muhammad, Alsubait, Arwa, Alharbi, Mashael, AlEidi, Hamad, Ballow, Mariam, Aldrees, Mohammed, Alam, Qamre, Al Abdulrahman, Abdulkareem, Alrifai, Muhammad Talal, Alfadhel, Majid
Publicado 2022

Blockade of p38 MAPK overcomes AML stem cell line KG1a resistance to 5-Fluorouridine and the impact on miRNA profiling

por Matou-Nasri, Sabine, Najdi, Maria, AlSaud, Nouran Abu, Alhaidan, Yazeid, Al-Eidi, Hamad, Alatar, Ghada, AlWadaani, Deemah, Trivilegio, Thadeo, AlSubait, Arwa, AlTuwaijri, Abeer, Abudawood, Manal, Almuzzaini, Bader
Publicado 2022

The diagnostic yield of CGH and WES in neurodevelopmental disorders

por Alotibi, Raniah S., Sannan, Naif S., AlEissa, Mariam, Aldriwesh, Marwh G., Al Tuwaijri, Abeer, Akiel, Maaged A., Almutairi, Mashael, Alsamer, Alhanouf, Altharawi, Nouf, Aljawfan, Ghadah, Alotiabi, Badi, AlBlawi, Mohammed A., Alfares, Ahmed
Publicado 2023

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

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

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

por Alyafee, Yusra, Al Tuwaijri, Abeer, Umair, Muhammad, Alharbi, Mashael, Haddad, Shahad, Ballow, Maryam, Alayyar, Latifah, Alam, Qamre, Althenayyan, Saleh, Al Ghilan, Nadia, Al Khaldi, Aziza, Faden, Majid S., Al Sufyan, Hamad, Alfadhel, Majid
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

Identification of novel interacts partners of ADAR1 enzyme mediating the oncogenic process in aggressive breast cancer

por Binothman, Najat, Aljadani, Majidah, Alghanem, Bandar, Refai, Mohammed Y., Rashid, Mamoon, Al Tuwaijri, Abeer, Alsubhi, Nouf H., Alrefaei, Ghadeer I., Khan, Muhammad Yasir, Sonbul, Sultan N., Aljoud, Fadwa, Alhayyani, Sultan, Abdulal, Rwaa H., Ganash, Magdah, Hashem, Anwar M.
Publicado 2023

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

por Ho, Bianca, Greenlaw, Keelin, Al Tuwaijri, Abeer, Moussette, Sanny, Martínez, Francisco, Giorgio, Elisa, Brusco, Alfredo, Ferrero, Giovanni Battista, Linhares, Natália D., Valadares, Eugênia R., Svartman, Marta, Kalscheuer, Vera M., Rodríguez Criado, Germán, Laprise, Catherine, Greenwood, Celia M. T., Naumova, Anna K.
Publicado 2018

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Ph...

por Asiri, Abdulaziz, Alwadaani, Deemah, Umair, Muhammad, Alhamoudi, Kheloud M., Almuhanna, Mohammed H., Nasir, Abdul, Alrfaei, Bahauddeen M., Al Tuwaijri, Abeer, Barhoumi, Tlili, Alyafee, Yusra, Almuzzaini, Bader, Aldrees, Mohammed, Ballow, Mariam, Alayyar, Latifah, Al Abdulrahman, Abdulkareem, Alhaidan, Yazeid, Al Ghasham, Nahlah, Al-Ajaji, Sulaiman, Alsalamah, Mohammad, Al Suwairi, Wafa, Alfadhel, Majid
Publicado 2021