| Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ... Genetics in Medicine 13 (9), 841-847, 2011 | 432 | 2011 |
| The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat UM Smith, M Consugar, LJ Tee, BM McKee, EN Maina, S Whelan, ... Nature genetics 38 (2), 191-196, 2006 | 335 | 2006 |
| Quantification of homozygosity in consanguineous individuals with autosomal recessive disease CG Woods, J Cox, K Springell, DJ Hampshire, MD Mohamed, M McKibbin, ... The American Journal of Human Genetics 78 (5), 889-896, 2006 | 321 | 2006 |
| Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ... The American Journal of Human Genetics 79 (2), 402-408, 2006 | 278 | 2006 |
| Meckel–Gruber syndrome: an update on diagnosis, clinical management, and research advances V Hartill, K Szymanska, SM Sharif, G Wheway, CA Johnson Frontiers in pediatrics 5, 244, 2017 | 162 | 2017 |
| Human ASPM participates in spindle organisation, spindle orientation and cytokinesis J Higgins, C Midgley, AM Bergh, SM Bell, JM Askham, E Roberts, ... BMC cell biology 11, 1-17, 2010 | 162 | 2010 |
| A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity JL Meade, EA de Wynter, P Brett, SM Sharif, CG Woods, AF Markham, ... Blood 107 (9), 3665-3668, 2006 | 106 | 2006 |
| Evolutionarily assembled cis-regulatory module at a human ciliopathy locus JH Lee, JL Silhavy, JE Lee, L Al-Gazali, S Thomas, EE Davis, SL Bielas, ... Science 335 (6071), 966-969, 2012 | 98 | 2012 |
| A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24 NV Morgan, P Gissen, S Sharif, L Baumber, J Sutherland, DA Kelly, ... Human genetics 111, 456-461, 2002 | 89 | 2002 |
| Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ... The American Journal of Human Genetics 98 (4), 735-743, 2016 | 77 | 2016 |
| Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain S Zhang, SM Sharif, YC Chen, EM Valente, M Ahmed, E Sheridan, ... Journal of Medical Genetics 53 (8), 533-535, 2016 | 53 | 2016 |
| Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies K Szymanska, I Berry, CV Logan, SRR Cousins, H Lindsay, H Jafri, ... Cilia 1, 1-8, 2012 | 52 | 2012 |
| Fine-scale population structure and demographic history of British Pakistanis E Arciero, SA Dogra, DS Malawsky, M Mezzavilla, T Tsismentzoglou, ... Nature Communications 12 (1), 7189, 2021 | 34 | 2021 |
| Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK S Ahmed, M Ahmed, SM Sharif, E Sheridan, GR Taylor Prenatal diagnosis 32 (10), 954-959, 2012 | 27 | 2012 |
| Influence of autozygosity on common disease risk across the phenotypic spectrum DS Malawsky, E van Walree, BM Jacobs, TH Heng, QQ Huang, AH Sabir, ... Cell 186 (21), 4514-4527. e14, 2023 | 16 | 2023 |
| Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes C Loveday, A Garrett, P Law, S Hanks, E Poyastro-Pearson, JW Adlard, ... Annals of Oncology 33 (12), 1318-1327, 2022 | 14 | 2022 |
| Enhancing inclusion of diverse populations in genomics: A competence framework SM Sharif, M Blyth, M Ahmed, E Sheridan, R Saltus, J Yu, E Tonkin, M Kirk Journal of genetic counseling 29 (2), 282-292, 2020 | 14 | 2020 |
| Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia K Szymanska, I Berry, CV Logan, SR Cousins, H Lindsay, H Jafri, ... | 5 | 2012 |
| 885 A service evaluation exploring the clinical pathway offered to individuals with dystrophin gene variants identified on array CGH G Topping, J Tariq, K Pysden, S Sharif, AM Childs Archives of Disease in Childhood 108 (Suppl 2), A46-A46, 2023 | | 2023 |
| Enhancing inclusion of diverse populations in genomics: A competence framework (vol 29, pg 282, 2020) SM Sharif, M Blyth, M Ahmed, E Sheridan, R Saltus, J Yu, E Tonkin, M Kirk JOURNAL OF GENETIC COUNSELING 29 (5), 877-877, 2020 | | 2020 |
