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| Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature J Morales, L Al-Sharif, DS Khalil, JMA Shinwari, P Bavi, RA Al-Mahrouqi, ... The American Journal of Human Genetics 85 (5), 558-568, 2009 | 248 | 2009 |
| Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry 22 (4), 615-624, 2017 | 220 | 2017 |
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| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 150 | 2016 |
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| Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis SM Wakil, DM Monies, M Abouelhoda, N Al‐Tassan, H Al‐Dusery, ... Arthritis & rheumatology 67 (1), 288-295, 2015 | 130 | 2015 |
| Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases H Al-Mousa, M Abouelhoda, DM Monies, N Al-Tassan, A Al-Ghonaium, ... Journal of Allergy and Clinical Immunology 137 (6), 1780-1787, 2016 | 129 | 2016 |
| Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies N Patel, MA Aldahmesh, H Alkuraya, S Anazi, H Alsharif, AO Khan, ... Genetics in Medicine 18 (6), 554-562, 2016 | 107 | 2016 |
| Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden M Abouelhoda, T Sobahy, M El-Kalioby, N Patel, H Shamseldin, D Monies, ... Genetics in Medicine 18 (12), 1244-1249, 2016 | 101 | 2016 |
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| Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer H Rodriguez‐Broadbent, PJ Law, A Sud, K Palin, S Tuupanen, A Gylfe, ... International journal of cancer 140 (12), 2701-2708, 2017 | 84 | 2017 |
| 9 Interleukin 17A and F and Asthma in Saudi Arabia: Gene Polymorphisms and Protein Levels MD Bazzi, MA Sultan, N Al Tassan, M Alanazi, A Al-Amri, MS Al-Hajjaj, ... Journal of Investigational Allergology and Clinical Immunology 21 (7), 551, 2011 | 77 | 2011 |
| Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency R Balasubramanian, JH Choi, L Francescatto, J Willer, ER Horton, ... Proceedings of the National Academy of Sciences 111 (50), 17953-17958, 2014 | 75 | 2014 |
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Nicholas FlemingUniversity of OtagoVerified email at otago.ac.nz
