PubRank

E Haan

Author PubWeight™ 52.51‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 2006 2.23
2 Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994 2.06
3 Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997 2.06
4 Fetal alcohol syndrome: a prospective national surveillance study. Arch Dis Child 2007 1.98
5 SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. Exp Neurol 2003 1.66
6 What constitutes cerebral palsy? Dev Med Child Neurol 1998 1.66
7 Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer. J Clin Oncol 2000 1.45
8 "Folate before pregnancy": the impact on women and health professionals of a population-based health promotion campaign in South Australia. Med J Aust 2001 1.45
9 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997 1.37
10 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet 2009 1.32
11 A South Australian population-based study of congenital talipes equinovarus. Paediatr Perinat Epidemiol 2005 1.24
12 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 2000 1.17
13 Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes. Br J Cancer 2004 1.07
14 Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A 2004 1.07
15 CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry 2011 1.07
16 Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol 2007 1.06
17 Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord 2003 1.06
18 Familial occurrence of Brachmann-de Lange syndrome. Am J Med Genet 1986 1.05
19 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
20 X-linked myotubular myopathy in a family with three adult survivors. Clin Genet 2003 1.00
21 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet 2013 0.98
22 Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. Am J Hum Genet 1991 0.98
23 Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet 2011 0.98
24 Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr 1987 0.97
25 The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A. Thromb Haemost 2000 0.96
26 Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 1996 0.95
27 Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child 2003 0.95
28 Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J Med Genet 1997 0.91
29 The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization. Clin Genet 1988 0.91
30 Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer. Breast Cancer Res Treat 2000 0.89
31 X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation. Clin Genet 1999 0.88
32 A population-based study of abdominal wall defects in South Australia and Western Australia. Paediatr Perinat Epidemiol 1998 0.87
33 The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial. J Med Genet 2002 0.86
34 The Hunter-McAlpine syndrome results from duplication 5q35-qter. Clin Genet 2005 0.85
35 Amniotic band syndrome: a population-based study in two Australian states. Paediatr Perinat Epidemiol 1993 0.84
36 Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review. Clin Genet 2005 0.84
37 Acampomelic campomelic dysplasia with SOX9 mutation. Am J Med Genet 2000 0.83
38 Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470) Am J Med Genet 1996 0.82
39 Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol 1998 0.82
40 First-trimester diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn 1997 0.82
41 Severe illness caused by the products of bacterial metabolism in a child with a short gut. Eur J Pediatr 1985 0.81
42 Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. Clin Genet 1997 0.80
43 Molecular and cytogenetic studies of the Prader-Willi syndrome. J Med Genet 1991 0.80
44 A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma. Clin Dysmorphol 1999 0.77
45 Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. Aust Dent J 1994 0.77
46 A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology. Cytogenet Genome Res 2009 0.77
47 A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online. Hum Mutat 1998 0.76
48 A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome. Hum Genet 1991 0.76
49 Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene. Eur J Biochem 1998 0.76
50 The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemia. Biomed Mass Spectrom 1979 0.76
51 Leigh's disease. Med J Aust 1986 0.75
52 A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. Hum Mutat 1998 0.75
53 Sustained virological response in chronic hepatitis C patients after a 6- and a 36-month interferon-alpha2b treatment schedule: a multicenter, randomized, controlled study. Scand J Gastroenterol 2001 0.75
54 Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome. J Paediatr Child Health 1995 0.75
55 A new method for the determination of L-dopa and 3-O-methyldopa in plasma and cerebrospinal fluid using gas chromatography and electron capture negative ion mass spectrometry. Clin Chim Acta 1988 0.75
56 Prader-Willi syndrome: a new study of the Australian Paediatric Surveillance Unit. J Paediatr Child Health 1998 0.75
57 Consanguinity and birth defects. Med J Aust 1989 0.75