| # | Title | Journal | Year | Citations |
|---|
| 1 | Genetic heterogeneity in osteogenesis imperfecta. | Journal of Medical Genetics | 1979 | 1,847 |
| 2 | The revised Ghent nosology for the Marfan syndrome | Journal of Medical Genetics | 2010 | 1,677 |
| 3 | Malignant peripheral nerve sheath tumours in neurofibromatosis 1 | Journal of Medical Genetics | 2002 | 1,033 |
| 4 | Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. | Journal of Medical Genetics | 1997 | 1,032 |
| 5 | ceRNA in cancer: possible functions and clinical implications | Journal of Medical Genetics | 2015 | 1,031 |
| 6 | International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia | Journal of Medical Genetics | 2011 | 887 |
| 7 | Hirschsprung disease, associated syndromes and genetics: a review | Journal of Medical Genetics | 2007 | 848 |
| 8 | Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 | Journal of Medical Genetics | 2006 | 778 |
| 9 | Global prevalence of putative haemochromatosis mutations. | Journal of Medical Genetics | 1997 | 690 |
| 10 | New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Journal of Medical Genetics | 1999 | 680 |
| 11 | Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations | Journal of Medical Genetics | 2005 | 673 |
| 12 | Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia | Journal of Medical Genetics | 2004 | 657 |
| 13 | Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family | Journal of Medical Genetics | 2000 | 645 |
| 14 | Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease | Journal of Medical Genetics | 2002 | 629 |
| 15 | Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome | Journal of Medical Genetics | 2002 | 629 |
| 16 | Apoptosis and cancer: mutations within caspase genes | Journal of Medical Genetics | 2009 | 587 |
| 17 | Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral | Journal of Medical Genetics | 2005 | 583 |
| 18 | Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females | Journal of Medical Genetics | 2001 | 580 |
| 19 | Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males | Journal of Medical Genetics | 2001 | 575 |
| 20 | Genetic susceptibility to non-polyposis colorectal cancer | Journal of Medical Genetics | 1999 | 549 |
| 21 | New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Journal of Medical Genetics | 1999 | 534 |
| 22 | Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) | Journal of Medical Genetics | 2003 | 524 |
| 23 | Predicting disease genes using protein-protein interactions | Journal of Medical Genetics | 2006 | 518 |
| 24 | Angelman syndrome: a review of the clinical and genetic aspects | Journal of Medical Genetics | 2003 | 508 |
| 25 | Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research | Journal of Medical Genetics | 2010 | 495 |
| 26 | A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population. | Journal of Medical Genetics | 1980 | 494 |
| 27 | Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. | Journal of Medical Genetics | 1993 | 485 |
| 28 | Will the real Cowden syndrome please stand up: revised diagnostic criteria | Journal of Medical Genetics | 2000 | 483 |
| 29 | Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of Malformations | Journal of Medical Genetics | 1965 | 479 |
| 30 | Von Hippel-Lindau disease: a genetic study. | Journal of Medical Genetics | 1991 | 479 |
| 31 | The genetics of schizophrenia and bipolar disorder: dissecting psychosis | Journal of Medical Genetics | 2005 | 479 |
| 32 | Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germlineCDH1mutation carriers | Journal of Medical Genetics | 2015 | 479 |
| 33 | A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. | Journal of Medical Genetics | 1989 | 463 |
| 34 | Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) | Journal of Medical Genetics | 2007 | 461 |
| 35 | Genetics of bipolar disorder | Journal of Medical Genetics | 1999 | 456 |
| 36 | DiGeorge syndrome: part of CATCH 22. | Journal of Medical Genetics | 1993 | 452 |
| 37 | Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. | Journal of Medical Genetics | 1993 | 448 |
| 38 | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size | Journal of Medical Genetics | 2010 | 447 |
| 39 | Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features | Journal of Medical Genetics | 2004 | 445 |
| 40 | Waardenburg syndrome. | Journal of Medical Genetics | 1997 | 440 |
| 41 | A clinical study of 57 children with fetal anticonvulsant syndromes | Journal of Medical Genetics | 2000 | 439 |
| 42 | Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers | Journal of Medical Genetics | 2011 | 432 |
| 43 | Classification and relationships of induced chromosomal structual changes. | Journal of Medical Genetics | 1976 | 425 |
| 44 | Methylation matters | Journal of Medical Genetics | 2001 | 425 |
| 45 | A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. | Journal of Medical Genetics | 1992 | 421 |
| 46 | Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy | Journal of Medical Genetics | 2002 | 421 |
| 47 | BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports | Journal of Medical Genetics | 2008 | 420 |
| 48 | Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. | Journal of Medical Genetics | 1978 | 415 |
| 49 | The Smith-Lemli-Opitz syndrome | Journal of Medical Genetics | 2000 | 412 |
| 50 | Splicing in action: assessing disease causing sequence changes | Journal of Medical Genetics | 2005 | 397 |
