PubRank

A Hockey

Author PubWeight™ 32.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Amyloid A4 protein and its precursor in Down's syndrome and Alzheimer's disease. N Engl J Med 1989 3.24
2 Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994 2.06
3 Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J Med Genet 1994 1.72
4 Intraspinal tumors in children. A review of 81 cases. J Neurosurg 1979 1.20
5 How strong is the association between abdominal obesity and the incidence of type 2 diabetes? Int J Clin Pract 2008 1.20
6 OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998 1.15
7 De Barsy syndrome--an autosomal recessive, progeroid syndrome. Eur J Pediatr 1985 1.11
8 The Nance-Horan syndrome. J Med Genet 1990 1.11
9 Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity. Am J Hum Genet 1993 1.02
10 A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 1992 1.00
11 Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. J Pediatr 1982 0.96
12 X-linked mental retardation with dystonic movements of the hands. Am J Med Genet 1988 0.91
13 FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet 1997 0.90
14 Familial melanoma associated with dominant ultraviolet radiation sensitivity. Cancer Res 1982 0.90
15 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. J Med Genet 1994 0.89
16 Intrapartum asphyxia and cerebral palsy. J Pediatr 1992 0.89
17 Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Am J Hum Genet 1994 0.87
18 Prenatal diagnosis of X-linked ichthyosis. Clin Chim Acta 1982 0.84
19 Evidence for linkage between HLA and malignant melanoma. Tissue Antigens 1981 0.83
20 Rett syndrome: abnormal membrane-bound lamellated inclusions in neurons and oligodendroglia. Am J Med Genet 1988 0.82
21 Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. Dev Med Child Neurol 1983 0.82
22 Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? Am J Med Genet 1991 0.81
23 Fetal alcohol syndrome: implications to family and society in Australia. Aust Paediatr J 1980 0.80
24 Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family. J Med Genet 1988 0.80
25 Spastic quadriplegia in Western Australia: a genetic epidemiological study. I: Case population and perinatal risk factors. Dev Med Child Neurol 1993 0.78
26 Angelman's syndrome: a neuropathological study. Acta Neuropathol 1992 0.78
27 X-linked intellectual handicap and precocious puberty with obesity in carrier females. Am J Med Genet 1986 0.77
28 Precocious puberty in the male offspring of a mother and daughter with the Prader-Willi syndrome. Am J Med Genet 1987 0.77
29 Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. Hum Mutat 1998 0.76
30 Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents. Clin Genet 1988 0.76
31 Menkes' kinky (steely) hair disease. Australas J Dermatol 1977 0.76
32 A pedigree study of perinatally lethal renal disease. J Med Genet 1986 0.75
33 Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. J Med Genet 1986 0.75
34 Unclassified osteochondrodystrophies with extreme platyspondyly (report of two cases). Australas Radiol 1988 0.75
35 Attitudes towards molecular genetic testing for neurofibromatosis type 1 in Western Australia. J Paediatr Child Health 1993 0.75
36 Family data in Rett syndrome: association with other genetic disorders. J Paediatr Child Health 2000 0.75
37 Pitfalls in the prenatal diagnosis of Tay-Sachs disease. Aust Paediatr J 1974 0.75
38 Evaluation of adoption of the intellectually handicapped: a retrospective analysis of 137 cases. J Ment Defic Res 1980 0.75
39 Chorionic villus sampling. Med J Aust 1986 0.75
40 The intellectually handicapped mother and her child. Aust Paediatr J 1979 0.75
41 The aetiology of intellectual disability in Western Australia: a community-based study. Dev Med Child Neurol 1991 0.75
42 Prenatal diagnosis of the fragile X using thymidine induction. Prenat Diagn 1987 0.75
43 The development of a genetic investigation centre at a maternity hospital. Med J Aust 1975 0.75
44 Genetic counselling. Aust Fam Physician 1981 0.75
45 Predictive diagnosis of multiple endocrine neoplasia (MEN 1) in four Australian kindreds. Aust N Z J Med 1996 0.75
46 Genetic screening in Western Australia. Med J Aust 1979 0.75
47 Prenatal diagnosis of dermatological conditions. Australas J Dermatol 1981 0.75
48 Prenatal detection of Pompe's disease by induction of alkaline phosphatase in cultured amniotic fluid cells. Aust N Z J Obstet Gynaecol 1981 0.75
49 Atelosteogenesis type III: a case report. Pediatr Radiol 1994 0.75