| Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population D Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ... The American Journal of Human Genetics 104 (6), 1182-1201, 2019 | 244 | 2019 |
| Expanding the clinical and genetic spectra of NKX6‐2‐related disorder C Baldi, AM Bertoli‐Avella, N Al‐Sannaa, M Alfadhel, K Al‐Thihli, ... Clinical Genetics 93 (5), 1087-1092, 2018 | 17 | 2018 |
| Neuroblastoma amplified sequence gene mutation: a rare cause of recurrent liver failure in children MY Hasosah, AI Iskandarani, AI Shawli, AF Alsahafi, GA Sukkar, ... Saudi Journal of Gastroenterology 23 (3), 206-208, 2017 | 17 | 2017 |
| Lethal multiple pterygium syndrome FS Mohtisham, A Sallam, A Shawli BMJ Case Reports CP 12 (5), e229045, 2019 | 9 | 2019 |
| The prevalence of congenital heart diseases in syndromic children at King Khalid National Guard Hospital from 2005 to 2016 EM Abduljawad, A AlHarthi, SA AlMatrafi, M Hussain, A Shawli, ... Cureus 12 (4), 2020 | 8 | 2020 |
| Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene H Alrajhi, J Alallah, A Shawli, K Alghamdi, F Hakami BMJ Case Reports CP 12 (5), e224197, 2019 | 6 | 2019 |
| A mutation in cathepsin C gene causing Papillon-Lefevre syndrome in a Saudi patient: a case report A Shawli, Y Almaghrabi, AS AlQuhaibi, Y Alghamdi, AM Aboud, ... Cureus 12 (1), 2020 | 4 | 2020 |
| Down-Klinefelter syndrome (48, XXY,+ 21) in a Saudi neonate: a case report and literature review J Alallah, S Habhab, F Mohtisham, A Shawli, M Daghistani Cureus 14 (4), 2022 | 3 | 2022 |
| Rhabdomyoma and Hypoplastic Left Heart Syndrome-Case Report of a Very Rare Combination R Waggass, HSB Yahib, HHB Seddeq, A Shawli, H Binyahib, ... Cureus 13 (11), 2021 | 3 | 2021 |
| One of the first cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: a case report and literature review SA Alsaedi, O Qurashi, M Bajunaid, AA Altalhi, AM Shawli Cureus 12 (1), 2020 | 3 | 2020 |
| A case report of Crisponi/cold-induced sweating syndrome 1 in a Saudi family J Alallah, A Shawli, F Hakami Journal of Clinical Neonatology 7 (4), 273-278, 2018 | 3 | 2018 |
| Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant J Alallah, LO Alamoudi, RM Makki, A Shawli, AT AlHarbi International Journal of Pediatrics and Adolescent Medicine 9 (2), 143-146, 2022 | 2 | 2022 |
| A case of atypical systemic primary carnitine deficiency in Saudi Arabia A Alghamdi, H Almalki, A Shawli, R Waggass, F Hakami Pediatric Reports 10 (2), 7705, 2018 | 2 | 2018 |
| Kabuki Syndrome with Chiari malformation type II: A case report MS Alqarni, ZM Bukhari, A Alzahrani, AW Abukhodair, A Abulhamail, ... Australasian Medical Journal (Online) 14 (7), 202-206, 2021 | 1 | 2021 |
| Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review F Mohtisham, M Althagafi, A Shawli, A Sallam Cureus 15 (9), 2023 | | 2023 |
| Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient M Al Qurashi, A Mustafa, SS Aga, A Ahmad, A El-Farra, A Shawli, ... BMC Medical Genomics 15 (1), 63, 2022 | | 2022 |
| Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting AM Avella, Z Yueksel, H Yavuz, C Baldi, A Marais, JM Garcia-Aznar, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 524-526, 2019 | | 2019 |
| Beyond asthma-pathogenic alteration of two alleles in CFTR gene DM Al-Zahrani, A Al-Shaikh, A Shahzad, R Dhabab, M Hasosah, A Shawli ALLERGY 68, 369-369, 2013 | | 2013 |
