| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 896 | 2017 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 744 | 2015 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 205 | 2018 |
| Quantifying the contribution of recessive coding variation to developmental disorders HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ... Science 362 (6419), 1161-1164, 2018 | 175* | 2018 |
| Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 165 | 2015 |
| A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts GH Mochida, VS Ganesh, JM Felie, D Gleason, RS Hill, KR Clapham, ... The American Journal of Human Genetics 87 (6), 882-889, 2010 | 105 | 2010 |
| Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients BR Ali, H Xu, NA Akawi, A John, NS Karuvantevida, R Langer, L Al-Gazali, ... Human molecular genetics 19 (11), 2239-2250, 2010 | 83 | 2010 |
| Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy M Muona, R Ishimura, A Laari, Y Ichimura, T Linnankivi, R Keski-Filppula, ... The American Journal of Human Genetics 99 (3), 683-694, 2016 | 79 | 2016 |
| Effects of canagliflozin on human myocardial redox signalling: clinical implications H Kondo, I Akoumianakis, I Badi, N Akawi, CP Kotanidis, M Polkinghorne, ... European Heart Journal 42 (48), 4947-4960, 2021 | 69 | 2021 |
| Adipose tissue–derived WNT5A regulates vascular redox signaling in obesity via USP17/RAC1-mediated activation of NADPH oxidases I Akoumianakis, F Sanna, M Margaritis, I Badi, N Akawi, L Herdman, ... Science translational medicine 11 (510), eaav5055, 2019 | 66 | 2019 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 66 | 2019 |
| Fat-secreted ceramides regulate vascular redox state and influence outcomes in patients with cardiovascular disease N Akawi, A Checa, AS Antonopoulos, I Akoumianakis, E Daskalaki, ... Journal of the American College of Cardiology 77 (20), 2494-2513, 2021 | 64 | 2021 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 58 | 2019 |
| Change in meticillin-resistant Staphylococcus aureus clones at a tertiary care hospital in the United Arab Emirates over a 5-year period Á Sonnevend, I Blair, M Alkaabi, P Jumaa, M Al Haj, A Ghazawi, N Akawi, ... Journal of clinical pathology 65 (2), 178-182, 2012 | 58 | 2012 |
| Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ... BioRxiv, 049056, 2016 | 51 | 2016 |
| METTL23, a transcriptional partner of GABPA, is essential for human cognition RE Reiff, BR Ali, B Baron, TW Yu, S Ben-Salem, ME Coulter, CR Schubert, ... Human molecular genetics 23 (13), 3456-3466, 2014 | 47 | 2014 |
| A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance BR Ali, JL Silhavy, NA Akawi, JG Gleeson, L Al-Gazali Orphanet Journal of Rare Diseases 7, 1-9, 2012 | 45 | 2012 |
| Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations J Kaplanis, N Akawi, G Gallone, JF McRae, E Prigmore, CF Wright, ... Genome research 29 (7), 1047-1056, 2019 | 44 | 2019 |
| Identification of New Alleles and the Determination of Alleles and Genotypes Frequencies at the CYP2D6 Gene in Emiratis RY Qumsieh, BR Ali, YM Abdulrazzaq, O Osman, NA Akawi, SMA Bastaki PLoS One 6 (12), e28943, 2011 | 42 | 2011 |
| Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia BR Ali, I Ben-Rebeh, A John, NA Akawi, RM Milhem, NA Al-Shehhi, ... PLoS One 6 (10), e26206, 2011 | 40 | 2011 |
