| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 190 | 2012 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 106 | 2016 |
| Arterial tortuosity syndrome: 40 new families and literature review A Beyens, J Albuisson, A Boel, M Al-Essa, W Al-Manea, D Bonnet, ... Genetics in Medicine 20 (10), 1236-1245, 2018 | 95 | 2018 |
| FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly N Simonis, I Migeotte, N Lambert, C Perazzolo, DC de Silva, B Dimitrov, ... Journal of medical genetics 50 (9), 585-592, 2013 | 95 | 2013 |
| Mutations in ANTXR1 cause GAPO syndrome V Stránecký, A Hoischen, H Hartmannová, MS Zaki, A Chaudhary, ... The American Journal of Human Genetics 92 (5), 792-799, 2013 | 90 | 2013 |
| A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. A Kidd, L Carson, DW Gregory, D De Silva, J Holmes, JC Dean, N Haites Journal of medical genetics 33 (6), 493-497, 1996 | 59 | 1996 |
| Noncoding copy-number variations are associated with congenital limb malformation R Flöttmann, BK Kragesteen, S Geuer, M Socha, L Allou, ... Genetics in Medicine 20 (6), 599-607, 2018 | 54 | 2018 |
| Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat 34 (4), 587-94, 2013 | 45 | 2013 |
| Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum A Haghighi, Z Kavehmanesh, A Haghighi, F Salehzadeh, ... Clinical genetics 89 (4), 434-441, 2016 | 34 | 2016 |
| Mulvihill‐Smith progeria‐like syndrome: A further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities DC de Silva, DN Wheatley, R Herriot, T Brown, DAJ Stevenson, P Helms, ... American journal of medical genetics 69 (1), 56-64, 1997 | 31 | 1997 |
| Family studies in chromosome 22qll deletion: further demonstration of phenotypic heterogeneity DJC de Silva D, Duffy P, Booth P, Auchterlonie I, Morrison N Clinical Dysmorphology 4, 294-303, 1995 | 30 | 1995 |
| Sri Lankan twin registry A Sumathipala, S Siribaddana, N De Silva, D Fernando, N Abeysingha, ... Twin Research and Human Genetics 5 (5), 424-426, 2002 | 29 | 2002 |
| Exploring the genetic basis of 3MC syndrome: Findings in 12 further families J Urquhart, R Roberts, D de Silva, S Shalev, E Chervinsky, S Nampoothiri, ... American Journal of Medical Genetics Part A 170 (5), 1216-1224, 2016 | 28 | 2016 |
| Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1α gene: implications for predictive testing Z Miedzybrodzka, AT Hattersley, S Ellard, D Pearson, D De Silva, ... European Journal of Human Genetics 7 (6), 729-732, 1999 | 25 | 1999 |
| Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis DC de Silva, MF Wright, DAJ Stevenson, C Clark, ES Gray, JD Holmes, ... Cancer: Interdisciplinary International Journal of the American Cancer …, 1996 | 25 | 1996 |
| Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. CB C Vilain, G Mortier, G Van Vliet, C Dubourg, C Heinrichs, D de Silva D, A ... American journal of medical genetics part A 149 (7), 1476-81, 2009 | 23 | 2009 |
| Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP). D de Silva, F Gilbert, G Needham, H Deans, P Turnpenny, N Haites Journal of medical genetics 32 (11), 862-866, 1995 | 23 | 1995 |
| Biallelic variants in DNA2 cause microcephalic primordial dwarfism Ž Tarnauskaitė, LS Bicknell, JA Marsh, JE Murray, DA Parry, CV Logan, ... Human mutation 40 (8), 1063-1070, 2019 | 20 | 2019 |
| Genome sequencing in families with congenital limb malformations J Elsner, MA Mensah, M Holtgrewe, J Hertzberg, S Bigoni, A Busche, ... Human Genetics 140 (8), 1229-1239, 2021 | 14 | 2021 |
| Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka DC de Silva, P Jayawardana, A Hapangama, E Suraweera, D Ranjani, ... Prenatal diagnosis 28 (8), 715-721, 2008 | 14 | 2008 |
