| Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 152 | 2017 |
| Genomic and phenotypic delineation of congenital microcephaly R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ... Genetics in Medicine 21 (3), 545-552, 2019 | 102 | 2019 |
| A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield A Alfares, M Alfadhel, T Wani, S Alsahli, I Alluhaydan, F Al Mutairi, ... Molecular genetics and metabolism 121 (2), 91-95, 2017 | 84 | 2017 |
| Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ... Brain 141 (7), 1934-1945, 2018 | 77 | 2018 |
| Expanding the phenome and variome of skeletal dysplasia S Maddirevula, S Alsahli, L Alhabeeb, N Patel, F Alzahrani, ... Genetics in Medicine 20 (12), 1609-1616, 2018 | 57 | 2018 |
| Genetic investigation of 93 families with microphthalmia or posterior microphthalmos N Patel, AO Khan, S Alsahli, G Abdel‐Salam, SR Nowilaty, AM Mansour, ... Clinical Genetics 93 (6), 1210-1222, 2018 | 45 | 2018 |
| Congenital disorders of glycosylation: the Saudi experience S Alsubhi, A Alhashem, E Faqeih, M Alfadhel, A Alfaifi, W Altuwaijri, ... American journal of medical genetics Part A 173 (10), 2614-2621, 2017 | 39 | 2017 |
| Seasonal variations of respiratory viruses detected from children with respiratory tract infections in Riyadh, Saudi Arabia SS Albogami, MR Alotaibi, SA Alsahli, E Masuadi, M Alshaalan Journal of infection and public health 11 (2), 183-186, 2018 | 34 | 2018 |
| Biallelic mutations in tetratricopeptide repeat domain 26 (intraflagellar transport 56) cause severe biliary ciliopathy in humans R Shaheen, S Alsahli, N Ewida, F Alzahrani, HE Shamseldin, N Patel, ... Hepatology 71 (6), 2067-2079, 2020 | 32 | 2020 |
| Further delineation of the clinical phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome type 4 S Alsahli, MT Alrifai, S Al Tala, FA Mutairi, M Alfadhel Journal of central nervous system disease 10, 1179573518759682, 2018 | 22 | 2018 |
| KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome S Alsahli, ST Arold, A Alfares, B Alhaddad, M Al Balwi, EJ Kamsteeg, ... American Journal of Medical Genetics Part A 176 (7), 1602-1609, 2018 | 8 | 2018 |
| Aortic calcification in Gaucher disease: a case report S Alsahli, DK Bubshait, ZA Rahbeeni, M Alfadhel The Application of Clinical Genetics, 107-110, 2018 | 7 | 2018 |
| Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency S Alsahli, A Al Anazi, MM Al Hatlani, A Kashgari, F Al Sufiani, M Alfadhel, ... ACG Case Reports Journal 5 (12), e931-4, 2018 | 7 | 2018 |
| Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures S Alsahli, A Alfares, FJ Guzmán-Vega, ST Arold, D Ba-Armah, F Al Mutairi neurogenetics 20, 109-115, 2019 | 6 | 2019 |
| Confirming the pathogenicity of NECAP 1 in early‐onset epileptic encephalopathy S Alsahli, W Al‐Twaijri, F Al Mutairi Epilepsia Open, 2018 | 6 | 2018 |
| Correction to: Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 137, 105-109, 2018 | 6 | 2018 |
| Further Delineation of Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome type 4 (CAMRQ4); Report of 5 New Patients and Review of … S Alsahli, M Alfadhel Neurology 88 (16_supplement), P4. 078, 2017 | 1 | 2017 |
| Congenital Disorders of Glycosylation: The Saudi Experience B Tabarki, S Alsubhi, A Alhashem, E Faqeih, M Alfadhel, A Alfaifi, ... ANNALS OF NEUROLOGY 86, S78-S78, 2019 | | 2019 |
| Truncating Biallelic Variant in DNAJA1 is Associated with Intellectual Disability and Seizures S Alsahli ANNALS OF NEUROLOGY 86, S78-S78, 2019 | | 2019 |
| SEVERE CROHN'S DISEASE MANIFESTATIONS IN A CHILD WITH CYSTATHIONINE B-SYNTHASE DEFICIENCY S Alsahli, M Alfadhel, F Al Mutairi MOLECULAR GENETICS AND METABOLISM 127 (3), 249-249, 2019 | | 2019 |
