| Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease | 1974/08/01 | English | 603 |
| The molecular regulation of myogenesis | 2000/01/01 | English | 539 |
| Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications | 2009/07/01 | English | 532 |
| A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length | 2004/03/12 | English | 505 |
| Gene/environment causes of cleft lip and/or palate | 2002/04/01 | English | 496 |
| Niemann–Pick disease type C | 2003/09/15 | English | 410 |
| Genes and mutations causing retinitis pigmentosa | 2013/06/19 | English | 360 |
| A cytogenetic survey of 14,069 newborn infants | 1975/10/01 | English | 337 |
| Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations | 2007/04/01 | English | 328 |
| Consanguinity and its relevance to clinical genetics | 2001/08/01 | English | 316 |
| The Cowden syndrome: a clinical and genetic study in 21 patients | 1986/03/01 | English | 307 |
| Epigenetic modifications in cancer | 2011/12/08 | English | 293 |
| Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30) | 1991/09/01 | English | 287 |
| X‐chromosome inactivation in female patients with Fabry disease | 2015/06/22 | English | 250 |
| The modular nature of genetic diseases | 2006/10/17 | English | 249 |
| The changing survival profile of people with Down's syndrome: implications for genetic counselling | 2002/11/01 | English | 248 |
| To tell or not to tell: barriers and facilitators in family communication about genetic risk | 2003/09/15 | English | 248 |
| The contribution of H LA to rheumatoid arthritis | 1989/09/01 | English | 243 |
| The Ehlers–Danlos syndrome, a disorder with many faces | 2012/03/15 | English | 243 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care | 2015/09/22 | English | 242 |
| Single nucleotide polymorphisms and the future of genetic epidemiology | 2000/10/01 | English | 231 |
| Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations | 2009/01/23 | English | 216 |
| Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases | 1994/08/01 | English | 205 |
| Lp(a) lipoprotein and pre‐β1‐lipoprotein in patients with coronary heart disease | 1974/09/01 | English | 202 |
| Determining zygosity in the Vietnam Era Twin Registry: an approach using questionnaires | 1989/06/01 | English | 198 |
| Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China | 2010/07/06 | English | 194 |
| The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy | 2004/02/16 | English | 192 |
| Liquid biopsy in breast cancer: A comprehensive review | 2019/02/27 | English | 185 |
| The Human Phenotype Ontology | 2010/05/09 | English | 184 |
| Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia | 2004/03/17 | English | 182 |