PubRank

Michael F Buckley

Author PubWeight™ 27.55‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 2010 2.60
2 Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 2012 2.30
3 A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 2012 2.12
4 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012 1.90
5 Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010 1.19
6 Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet 2012 1.17
7 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet 2011 1.13
8 SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009 1.05
9 Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet 2006 1.03
10 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. J Med Genet 2007 0.96
11 Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett 2012 0.91
12 Quantitative trait loci for steady-state platelet count in mice. Mamm Genome 2004 0.89
13 A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss. Genet Med 2011 0.89
14 Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse. Circ Res 2006 0.88
15 A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. Clin Dysmorphol 2006 0.86
16 Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet 2010 0.85
17 An Australian tuberous sclerosis cohort: are surveillance guidelines being met? J Paediatr Child Health 2011 0.83
18 Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol 2012 0.82
19 Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. Am J Med Genet A 2008 0.81
20 Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. Clin Dysmorphol 2008 0.80
21 The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenat Diagn 2007 0.77
22 Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomas. Pathology 2006 0.77
23 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. Genes Chromosomes Cancer 2009 0.77
24 The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. Am J Med Genet A 2004 0.77
25 Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP 2009 0.75
26 In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy. Aust N Z J Obstet Gynaecol 2002 0.75