PubRank

M Pembrey

Author PubWeight™ 53.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 ALSPAC--the Avon Longitudinal Study of Parents and Children. I. Study methodology. Paediatr Perinat Epidemiol 2001 14.31
2 Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998 3.03
3 A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC). Eur J Hum Genet 2000 1.92
4 IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997 1.72
5 Dominantly inherited cleft lip and palate in two families. J Med Genet 1989 1.49
6 X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991 1.46
7 Congenital cutis laxa with retardation of growth and development. J Med Genet 1987 1.45
8 Mitochondrial 16189 variant, thinness at birth, and type-2 diabetes. ALSPAC study team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet 1999 1.24
9 Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995 1.23
10 Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996 1.22
11 Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet 2001 1.14
12 Genetic prediction in X-linked agammaglobulinaemia. Am J Med Genet 1988 1.14
13 Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. Lancet 1986 1.08
14 Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child 1983 0.98
15 Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol 1989 0.95
16 Mannose-binding lectin alleles in a prospectively recruited UK population. The ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood. Lancet 1997 0.95
17 The genetics of deafness. Arch Dis Child 1990 0.95
18 Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 1995 0.95
19 Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis. J Thromb Haemost 2008 0.93
20 Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. Hum Mol Genet 1994 0.90
21 The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study. Ultrasound Obstet Gynecol 2001 0.89
22 Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]? Am J Med Genet 2000 0.89
23 A gene for FG syndrome maps in the Xq12-q21.31 region. Am J Med Genet 1997 0.87
24 Diagnosis of fragile-X syndrome: the experiences of parents. J Intellect Disabil Res 1999 0.86
25 Phenotypic variation in LADD syndrome. J Med Genet 1985 0.85
26 An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Ann Hum Genet 2006 0.85
27 Seckel syndrome: an overdiagnosed syndrome. J Med Genet 1985 0.85
28 The significance of choroid plexus cysts in an unselected population: results of a multicenter study. Ultrasound Obstet Gynecol 1998 0.85
29 Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. Clin Endocrinol (Oxf) 1996 0.84
30 Concordance and recessive inheritance of Leber congenital amaurosis. Am J Med Genet 1993 0.82
31 An interaction between the IL-4Ralpha gene and infection is associated with atopic eczema in young children. Clin Exp Allergy 2002 0.81
32 Fragile-X syndrome in North East Essex: towards systematic screening: clinical selection. J Intellect Disabil Res 1994 0.79
33 Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations. Clin Dysmorphol 1993 0.79
34 Neuro-otological function in X-linked hearing loss: a multipedigree assessment and correlation with other clinical parameters. Acta Otolaryngol 1993 0.79
35 Embryo transfer in prevention of genetic disease. Lancet 1979 0.78
36 Births resulting from assisted conception. BMJ 1990 0.75
37 Hyperphagic short stature and Prader--Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress. Br J Psychiatry 2001 0.75
38 Recently recognized chromosomal defects of clinical importance. Postgrad Med J 1986 0.75
39 Sickle cell disease in Saudi Arabs in early childhood. Arch Dis Child 1981 0.75
40 Molecular technology in clinical genetics. S Afr Med J 1983 0.75
41 Chinese amend policy on sterilisation for genetic reasons. Eur J Hum Genet 1999 0.75
42 Germ-line quandary. Nature 1988 0.75
43 Recent advances in clinical genetics. Practitioner 1988 0.75
44 Dips on Békésy or audioscan fail to identify carriers of autosomal recessive non-syndromic hearing loss. Acta Otolaryngol 1996 0.75
45 Interpretation of the heterogeneity in the linkage relationships of DNA markers around the fragile X locus. Hum Genet 1987 0.75