| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 91 | 2014 |
| Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates: LSD in UAE FA Al-Jasmi, N Tawfig, A Berniah, BR Ali, M Taleb, JL Hertecant, F Bastaki, ... JIMD Reports-Volume 10, 1-9, 2013 | 80 | 2013 |
| Pharmaceutical chaperones and proteostasis regulators in the therapy of lysosomal storage disorders: current perspective and future promises FE Mohamed, L Al-Gazali, F Al-Jasmi, BR Ali Frontiers in pharmacology 8, 448, 2017 | 73 | 2017 |
| Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations M Huemer, D Karall, A Schossig, JE Abdenur, F Al Jasmi, C Biagosch, ... Journal of inherited metabolic disease 38, 905-914, 2015 | 61 | 2015 |
| Cardiac disease in methylmalonic acidemia CE Prada, F Al Jasmi, EP Kirk, M Hopp, O Jones, ND Leslie, TA Burrow The Journal of pediatrics 159 (5), 862-864, 2011 | 60 | 2011 |
| 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 | 58 | 2016 |
| Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates A Al-Shamsi, JL Hertecant, AK Souid, FA Al-Jasmi Orphanet Journal of Rare Diseases 11, 1-11, 2016 | 48 | 2016 |
| Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group MENA Pompe Working Group, F Al Jasmi, M Al Jumah, F Alqarni, ... BMC neurology 15, 1-17, 2015 | 45 | 2015 |
| Mutation spectrum and birth prevalence of inborn errors of metabolism among Emiratis: a study from Tawam Hospital Metabolic Center, United Arab Emirates A Al-Shamsi, JL Hertecant, S Al-Hamad, AK Souid, F Al-Jasmi Sultan qaboos university medical journal 14 (1), e42, 2014 | 45 | 2014 |
| Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies LH Rodan, M Hauptman, AM D'Gama, AE Qualls, S Cao, K Tuschl, ... Molecular genetics and metabolism 124 (2), 161-167, 2018 | 41 | 2018 |
| Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect J Wang, E Kim, H Dai, V Stefans, H Vogel, F Al Jasmi, SAS Vergano, ... Molecular genetics and metabolism 124 (2), 124-130, 2018 | 39 | 2018 |
| Inborn errors of metabolism in the United Arab Emirates: disorders detected by newborn screening (2011–2014) FA Al-Jasmi, A Al-Shamsi, JL Hertecant, SM Al-Hamad, AK Souid JIMD Reports, Volume 28, 127-135, 2016 | 35 | 2016 |
| Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function AU Rehman, M Najafi, M Kambouris, L Al‐Gazali, P Makrythanasis, A Rad, ... Human mutation 40 (3), 267-280, 2019 | 28 | 2019 |
| Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene JL Hertecant, I Ben-Rebeh, MA Marah, T Abbas, L Ayadi, SB Salem, ... European journal of medical genetics 55 (12), 671-676, 2012 | 28 | 2012 |
| LINS, a modulator of the WNT signaling pathway, is involved in human cognition NA Akawi, F Al-Jasmi, AM Al-Shamsi, BR Ali, L Al-Gazali Orphanet Journal of Rare Diseases 8, 1-12, 2013 | 26 | 2013 |
| Hunter disease eClinic:interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease F Al-Jasmi, L Moldovan, JTR Clarke BMC medical education 10, 1-11, 2010 | 23 | 2010 |
| 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 |
| Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias N Al Dhahouri, CD Langhans, Z Al Hammadi, JG Okun, GF Hoffmann, ... Clinica Chimica Acta 487, 41-45, 2018 | 22 | 2018 |
| SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure N Al Zaabi, N Al Menhali, F Al‐Jasmi Molecular genetics & genomic medicine 6 (1), 109-113, 2018 | 20 | 2018 |
| Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy L Meng, T Donti, F Xia, Z Niu, A Al Shamsi, J Hertecant, F Al‐Jasmi, ... American Journal of Medical Genetics Part A 173 (2), 460-470, 2017 | 20 | 2017 |
