| The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes D Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ... Human genetics 136, 921-939, 2017 | 258 | 2017 |
| Enhanced interpretation of newborn screening results without analyte cutoff values G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ... Genetics in medicine 14 (7), 648-655, 2012 | 142 | 2012 |
| EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy S Byrne, L Jansen, JM U-King-Im, A Siddiqui, HGW Lidov, I Bodi, L Smith, ... Brain 139 (3), 765-781, 2016 | 109 | 2016 |
| PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights DL Johnstone, HH Al-Shekaili, M Tarailo-Graovac, NI Wolf, AS Ivy, ... Brain 142 (3), 542-559, 2019 | 74 | 2019 |
| Reanalysis of exome sequencing data of intellectual disability samples: yields and benefits M Al‐Nabhani, S Al‐Rashdi, F Al‐Murshedi, A Al‐Kindi, K Al‐Thihli, ... Clinical genetics 94 (6), 495-501, 2018 | 74 | 2018 |
| Guidelines for acute management of hyperammonemia in the Middle East region M Alfadhel, FA Mutairi, N Makhseed, FA Jasmi, K Al-Thihli, E Al-Jishi, ... Therapeutics and clinical risk management, 479-487, 2016 | 54 | 2016 |
| Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype A Alfares, LD Nunez, K Al-Thihli, J Mitchell, S Melançon, N Anastasio, ... Journal of medical genetics 48 (9), 602-605, 2011 | 52 | 2011 |
| An update on ocular involvement in mucopolysaccharidoses A Ganesh, Z Bruwer, K Al-Thihli Current Opinion in Ophthalmology 24 (5), 379-388, 2013 | 50 | 2013 |
| Drug treatment of inborn errors of metabolism: a systematic review M Alfadhel, K Al-Thihli, H Moubayed, W Eyaid, M Al-Jeraisy Archives of disease in childhood 98 (6), 454-461, 2013 | 42 | 2013 |
| Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study K Al-Thihli, F Al-Murshedi, N Al-Hashmi, W Al-Mamari, MM Islam, ... Human heredity 77 (1-4), 183-188, 2014 | 39 | 2014 |
| A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis K Al-Thihli, L Palma, V Marcus, M Cesari, YB Kushner, A Barkun, ... Nature Reviews Gastroenterology & Hepatology 6 (3), 184-189, 2009 | 39 | 2009 |
| Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire SC Grünert, TGJ Derks, K Adrian, K Al-Thihli, D Ballhausen, J Bidiuk, ... Genetics in medicine 24 (8), 1781-1788, 2022 | 36 | 2022 |
| Compound heterozygous deletions of PMP22 causing severe Charcot‐Marie‐Tooth disease of the Dejerine‐Sottas disease phenotype K Al‐Thihli, T Rudkin, N Carson, C Poulin, S Melançon, ... American Journal of Medical Genetics Part A 146 (18), 2412-2416, 2008 | 36 | 2008 |
| Phenotypic spectrum of ALPK3‐related cardiomyopathy K Al Senaidi, N Joshi, M Al‐Nabhani, G Al‐Kasbi, A Al Farqani, K Al‐Thihli, ... American Journal of Medical Genetics Part A 179 (7), 1235-1240, 2019 | 30 | 2019 |
| Recessive, deleterious variants in SMG8 expand the role of nonsense-mediated decay in developmental disorders in humans F Alzahrani, H Kuwahara, Y Long, M Al-Owain, M Tohary, M AlSayed, ... The American Journal of Human Genetics 107 (6), 1178-1185, 2020 | 22 | 2020 |
| Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism OY Al-Dirbashi, M Alfadhel, K Al-Thihli, N Al Dhahouri, CD Langhans, ... Scientific reports 9 (1), 12366, 2019 | 22 | 2019 |
| Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases: single-centre experience NP Shanmugam, JJ Valamparampil, MS Reddy, KJ Al Said, K Al-Thihli, ... JIMD Reports, Volume 45, 29-36, 2019 | 21 | 2019 |
| Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis K Al-Thihli, G Sinclair, S Sirrs, M Mezei, J Nelson, H Vallance Journal of inherited metabolic disease 37, 207-213, 2014 | 21 | 2014 |
| Nonketotic hyperglycinemia: two case reports and review RP Poothrikovil, K Al Thihli, A Al Futaisi, F Al Murshidi The Neurodiagnostic Journal 59 (3), 142-151, 2019 | 17 | 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 |
