PubRank

A Fryer

Author PubWeight™ 72.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol Biomarkers Prev 2001 3.43
2 The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry 2004 3.41
3 Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991 2.96
4 Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998 2.16
5 Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003 1.95
6 Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet 1994 1.91
7 Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet 1997 1.88
8 Outcome of low vision aid provision: the effectiveness of a low vision clinic. Optom Vis Sci 1994 1.80
9 Meier-Gorlin syndrome: report of eight additional cases and review. Am J Med Genet 2001 1.76
10 A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet 2008 1.71
11 Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 1990 1.64
12 Predictors of clinical hypomagnesemia. Hypokalemia, hypophosphatemia, hyponatremia, and hypocalcemia. Arch Intern Med 1984 1.40
13 The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 1996 1.40
14 The role of molecular genetics in the prenatal diagnosis of retinal dystrophies. Eye (Lond) 1995 1.39
15 Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 2009 1.31
16 Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol 1995 1.28
17 New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet 1995 1.25
18 Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes. Arch Dis Child Fetal Neonatal Ed 2005 1.17
19 The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet 2005 1.15
20 Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci 1991 1.14
21 Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet 2008 1.10
22 The human glutathione S-transferases. Immunohistochemical studies of the developmental expression of Alpha- and Pi-class isoenzymes in liver. Biochem J 1988 1.07
23 A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet 1990 1.07
24 Close flanking markers for neurofibromatosis type I (NF1). Am J Hum Genet 1989 1.03
25 Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol 1994 1.03
26 Magnesium and potassium interrelationships, experimental and clinical. Acta Med Scand Suppl 1981 0.99
27 Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations. Eur J Cancer B Oral Oncol 1994 0.98
28 Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients. J Med Genet 2002 0.92
29 Susceptibility to multiple cutaneous basal cell carcinomas: significant interactions between glutathione S-transferase GSTM1 genotypes, skin type and male gender. Br J Cancer 1996 0.91
30 Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. J Med Genet 1995 0.90
31 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. J Med Genet 1996 0.87
32 Monozygotic twins with 22q11 deletion and discordant phenotypes. J Med Genet 1996 0.86
33 Glutathione S-transferase and cytochrome-P-450 polymorphism as risk factors for squamous cell carcinoma of the larynx. Am J Surg 1996 0.86
34 Non-random x-inactivation in the female mule. Nature 1969 0.86
35 Membrane specific carbonic anhydrase (CAIV) expression in human tissues. Biochim Biophys Acta 1990 0.86
36 Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 1995 0.86
37 A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia 2005 0.86
38 Cytogenetic and endocrine studies of a freemartin heifer and its bull co-twin. Cytogenetics 1969 0.85
39 The frequency of Legionella infection prospectively determined in children hospitalized with pneumonia. J Pediatr 1981 0.85
40 Glutathione S-transferase and cytochrome P450 genotypes as risk factors for laryngeal carcinoma. Eur Arch Otorhinolaryngol 1997 0.84
41 Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics. J Med Genet 2002 0.84
42 Association of homozygosity for glutathione-S-transferase GSTM1 null alleles with the Ro+/La- autoantibody profile in patients with systemic lupus erythematosus. Arthritis Rheum 1996 0.84
43 Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. J Med Genet 1992 0.83
44 Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. Mol Syndromol 2010 0.83
45 Hypomagnesemia and hypokalemia in 1,000 treated ambulatory hypertensive patients. J Am Coll Nutr 1982 0.83
46 Refinement of the cone-rod retinal dystrophy locus on chromosome 19q. Am J Hum Genet 1994 0.83
47 Tylosis oesophageal cancer mapped. Nat Genet 1994 0.82
48 Future Fit: a cardiovascular health education and fitness project in an after-school setting. J Sch Health 1986 0.81
49 Tumor necrosis factor microsatellite haplotypes are different in male and female patients with RA. J Rheumatol 1997 0.81
50 Polymorphism at the glutathione S-transferase GSTM1 locus: a study of the frequencies of the GSTM1 A, B, A/B and null phenotypes in Nigerians. Clin Chim Acta 1994 0.79
51 Intravenous magnesium--potential hazard of inadequate mixing. J Am Coll Nutr 1983 0.79
52 Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype. Clin Dysmorphol 2000 0.79
53 Vitamin D receptor gene polymorphism is associated with reduced disability in multiple sclerosis. Mult Scler 2008 0.78
54 Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (Lond) 2008 0.78
55 Histopathology and molecular cytogenetics of a corneal opacity associated with the trisomy 8 mosaic syndrome (46,XY/47,XY, +8). Cornea 1997 0.78
56 Influence of tumour necrosis factor microsatellite polymorphisms on susceptibility to head and neck cancer. Acta Otolaryngol 1998 0.77
57 [Effect of gene polymorphism on detoxifying glutathione-S-transferase enzymes on chromosomal stability of squamous epithelial carcinomas in the area of the head-neck]. Laryngorhinootologie 1998 0.77
58 Multiple basal cell carcinomas in a patient with acute myeloid leukaemia and chronic lymphocytic leukaemia. Clin Exp Dermatol 1999 0.77
59 Nasomaxillary hypoplasia and severe orofacial clefting in a child of a mother with phenylketonuria. J Inherit Metab Dis 2002 0.77
60 Origin of both coronary arteries from the pulmonary trunk associated with hypoplasia of the aortic tract complex: a new entity. J Am Coll Cardiol 1984 0.76
61 The genetic testing of children. J R Soc Med 1997 0.76
62 Porphyria cutanea tarda and haemochromatosis: a family study. Gut 1990 0.75
63 Epilepsy in the Freeman Sheldon syndrome. J Child Neurol 1995 0.75
64 Mental retardation, mitral valve prolapse, and characteristic face: another report? Am J Med Genet 1994 0.75
65 Polymorphism in detoxifying enzymes and susceptibility to skin cancer. Photochem Photobiol 1996 0.75
66 Odontogenic keratocysts do not occur in Noonan syndrome. Clin Dysmorphol 1993 0.75
67 Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? Clin Dysmorphol 2001 0.75
68 Hypopigmentation of the fundi associated with Pallister-Killian syndrome. J Pediatr Ophthalmol Strabismus 1995 0.75
69 Neurofibromatosis type 1 and McCune-Albright syndrome occurring in the same patient. Br J Dermatol 2000 0.75
70 Surgical implications of the Smith-Lemli-Opitz syndrome. Pediatr Surg Int 2005 0.75
71 Expression of membrane-bound carbonic anhydrase in developing human lung and kidney. Biochem Soc Trans 1989 0.75
72 Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition? J Med Genet 1999 0.75
73 Hereditary vocal cord palsy. Int J Pediatr Otorhinolaryngol 2003 0.75
74 Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online. Hum Mutat 1999 0.75
75 Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience. Prenat Diagn 1990 0.75
76 Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. Clin Exp Dermatol 2014 0.75