Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay MD Al-Sayed, H Al-Zaidan, AB Albakheet, H Hakami, R Kenana, ... The American Journal of Human Genetics 93 (4), 721-726, 2013 | 112 | 2013 |
Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia YA Al-Yafee, LY Al-Ayadhi, SH Haq, AK El-Ansary BMC neurology 11, 1-9, 2011 | 106 | 2011 |
Next-generation sequencing-based pre-implantation genetic testing for aneuploidy (PGT-A): First report from Saudi Arabia Y Alyafee, Q Alam, AA Tuwaijri, M Umair, S Haddad, M Alharbi, ... Genes 12 (4), 461, 2021 | 42 | 2021 |
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach Y Alyafee, A Al Tuwaijri, M Umair, M Alharbi, S Haddad, M Ballow, ... Frontiers in Genetics 13, 1047474, 2022 | 34 | 2022 |
Next generation sequencing based non-invasive prenatal testing (NIPT): First report from Saudi Arabia Y Alyafee, A Al Tuwaijri, Q Alam, M Umair, S Haddad, M Alharbi, M Ballow, ... Frontiers in Genetics 12, 630787, 2021 | 33 | 2021 |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly EA Faqeih, M Al‐Owain, D Colak, R Kenana, Y Al‐Yafee, M Al‐Dosary, ... American Journal of Medical Genetics Part A 164 (6), 1565-1570, 2014 | 32 | 2014 |
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family A Sheereen, M Alaamery, S Bawazeer, Y Al Yafee, S Massadeh, W Eyaid Journal of Medical Genetics 54 (4), 236-240, 2017 | 31 | 2017 |
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ... Clinical Genetics 98 (6), 555-561, 2020 | 30 | 2020 |
Preparation of anastrozole loaded PEG-PLA nanoparticles: evaluation of apoptotic response of breast cancer cell lines YA Alyafee, M Alaamery, S Bawazeer, MS Almutairi, B Alghamdi, ... International journal of nanomedicine, 199-208, 2018 | 25 | 2018 |
Synthesis of protein-coated biocompatible methotrexate-loaded PLA-PEG-PLA nanoparticles for breast cancer treatment S Massadeh, M Alaamery, S Al-Qatanani, S Alarifi, S Bawazeer, Y Alyafee Nano Reviews & Experiments 7 (1), 31996, 2016 | 23 | 2016 |
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia KM Alhamoudi, J Bhat, M Nashabat, M Alharbi, Y Alyafee, A Asiri, ... Frontiers in pediatrics 8, 71, 2020 | 18 | 2020 |
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report F Al Mutairi, R Alkhalaf, A Alkhorayyef, F Alroqi, A Yusra, M Umair, F Nouf, ... BMC Pulmonary Medicine 20, 1-5, 2020 | 17 | 2020 |
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay A Asiri, E Aloyouni, M Umair, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ... Annals of Clinical and Translational Neurology 7 (6), 956-964, 2020 | 16 | 2020 |
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis … M Umair, M Farooq Khan, M Aldrees, M Nashabat, KM Alhamoudi, M Bilal, ... Frontiers in Cell and Developmental Biology 9, 736960, 2021 | 12 | 2021 |
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect … A Asiri, D Alwadaani, M Umair, KM Alhamoudi, MH Almuhanna, A Nasir, ... Genes 12 (2), 294, 2021 | 11 | 2021 |
Identification of the TTC26 splice variant in a novel complex ciliopathy syndrome with biliary, renal, neurological, and skeletal manifestations M Alfadhel, M Umair, B Almuzzaini, A Asiri, A Al Tuwaijri, K Alhamoudi, ... Molecular Syndromology 12 (3), 133-140, 2021 | 10 | 2021 |
Studies on the effect of gold nanoparticles on oxidative stress and antioxidants defense indices in various rat tissues NJ Siddiqi, MAK Abdelhalim, YA AlYafee, AS Alhomida African Journal of Pharmacy and Pharmacology 6 (47), 3246-51, 2012 | 10 | 2012 |
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay A Al Tuwaijri, Y Alyafee, M Alharbi, M Ballow, M Aldrees, Q Alam, ... Molecular genetics & genomic medicine 10 (8), e1969, 2022 | 8 | 2022 |
Non-invasive prenatal testing for autosomal recessive disorders: a new promising approach. Front Genet. 2022; 13: 1047474 Y Alyafee, A Al Tuwaijri, M Umair, M Alharbi, S Haddad, M Ballow, ... | 6 | 2022 |
Biomarker discovery in neurological diseases: a metabolomic approach A El-Ansary, N Al-Afaleg, Y Al-Yafaee Open Access Journal of Clinical Trials, 27-41, 2009 | 6 | 2009 |