PIEZO2 mediates injury-induced tactile pain in mice and humans M Szczot, J Liljencrantz, N Ghitani, A Barik, R Lam, JH Thompson, ... Science translational medicine 10 (462), eaat9892, 2018 | 260 | 2018 |
PIEZO2 in sensory neurons and urothelial cells coordinates urination KL Marshall, D Saade, N Ghitani, AM Coombs, M Szczot, J Keller, T Ogata, ... Nature 588 (7837), 290-295, 2020 | 160 | 2020 |
An ultrafast system for signaling mechanical pain in human skin SS Nagi, AG Marshall, A Makdani, E Jarocka, J Liljencrantz, ... Science advances 5 (7), eaaw1297, 2019 | 134 | 2019 |
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ... Nature medicine 27 (7), 1197-1204, 2021 | 123 | 2021 |
Pure cannabidiol in the treatment of malignant migrating partial seizures in infancy: a case report D Saade, C Joshi Pediatric neurology 52 (5), 544-547, 2015 | 67 | 2015 |
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 H Al Hosani, M Salah, HM Osman, HM Farag, L El Assiouty, D Saade, ... EMHJ-Eastern Mediterranean Health Journal, 20 (1), 17-23, 2014, 2014 | 65 | 2014 |
The national congenital anomalies register in the United Arab Emirates H Al Hosani, M Salah, H Abu Zeid, HM Farag, D Saade EMHJ-Eastern Mediterranean Health Journal, 11 (4), 690-699, 2005, 2005 | 63 | 2005 |
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency AP Rebelo, D Saade, CV Pereira, A Farooq, TC Huff, L Abreu, CT Moraes, ... Brain 141 (3), 662-672, 2018 | 60 | 2018 |
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial PB Shieh, NL Kuntz, JJ Dowling, W Müller-Felber, CG Bönnemann, ... The Lancet Neurology 22 (12), 1125-1139, 2023 | 55 | 2023 |
GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation BS Jensen, T Willer, DN Saade, MO Cox, T Mozaffar, M Scavina, ... Human mutation 36 (12), 1159-1163, 2015 | 53 | 2015 |
PIEZO2 in somatosensory neurons controls gastrointestinal transit MR Servin-Vences, RM Lam, A Koolen, Y Wang, DN Saade, M Loud, ... Cell 186 (16), 3386-3399. e15, 2023 | 45 | 2023 |
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement S Donkervoort, R Sabouny, P Yun, L Gauquelin, KR Chao, Y Hu, ... Acta neuropathologica 138, 1013-1031, 2019 | 39 | 2019 |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy MC Estañ, E Fernández-Núñez, MS Zaki, MI Esteban, S Donkervoort, ... Nature communications 10 (1), 797, 2019 | 37 | 2019 |
United Arab Emirates national newborn screening programme: an evaluation 1998-2000 H Al Hosani, M Salah, D Saade, H Osman, J Al Zahid EMHJ-Eastern Mediterranean Health Journal, 9 (3), 324-332, 2003, 2003 | 37 | 2003 |
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans LK Case, J Liljencrantz, N Madian, A Necaise, J Tubbs, M McCall, ... Nature communications 12 (1), 657, 2021 | 36 | 2021 |
Dominant collagen XII mutations cause a distal myopathy P Mohassel, T Liewluck, Y Hu, D Ezzo, T Ogata, D Saade, S Neuhaus, ... Annals of clinical and translational neurology 6 (10), 1980-1988, 2019 | 34 | 2019 |
Prevalence of iodine deficiency disorders in the United Arab Emirates measured by raised TSH levels H Al Hosani, H Osman, L Abdel Wareth, D Saade, M Salah EMHJ-Eastern Mediterranean Health Journal, 9 (1-2), 123-130, 2003, 2003 | 26 | 2003 |
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort DX Bharucha-Goebel, G Norato, D Saade, E Paredes, V Biancavilla, ... Brain 144 (10), 3239-3250, 2021 | 24 | 2021 |
PIEZO2 and perineal mechanosensation are essential for sexual function RM Lam, LJ von Buchholtz, M Falgairolle, J Osborne, E Frangos, ... Science 381 (6660), 906-910, 2023 | 22 | 2023 |
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy JA Morales-Rosado, TL Schwab, SK Macklin-Mantia, AR Foley, ... The American Journal of Human Genetics 110 (6), 989-997, 2023 | 20 | 2023 |