PubRank

David J Amor

Author PubWeight™ 43.51‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 2011 1.66
2 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004 1.51
3 Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 2012 1.50
4 Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 2010 1.50
5 Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol 2011 1.38
6 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009 1.30
7 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014 1.25
8 Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies. Fertil Steril 2010 1.18
9 Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paediatr Child Health 2006 1.17
10 An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet 2012 1.17
11 Increased genetic counseling support improves communication of genetic information in families. Genet Med 2008 1.13
12 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013 1.09
13 Chromosome size and origin as determinants of the level of CENP-A incorporation into human centromeres. Chromosome Res 2004 1.09
14 Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet 2011 1.07
15 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat 2011 0.99
16 Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge. J Paediatr Child Health 2007 0.99
17 A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One 2010 0.95
18 Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome. Prenat Diagn 2010 0.95
19 Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? Am J Med Genet A 2007 0.94
20 FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Mol Diagn 2011 0.94
21 Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A 2011 0.93
22 Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 2011 0.91
23 Questionable pathogenicity of FOXG1 duplication. Eur J Hum Genet 2012 0.90
24 Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med 2012 0.90
25 Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study. Clin Chem 2012 0.90
26 Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A 2009 0.84
27 Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty. Hum Mol Genet 2013 0.84
28 Fertility in Turner syndrome. Clin Endocrinol (Oxf) 2013 0.84
29 Morbid obesity and hyperphagia in the WAGR syndrome. Clin Dysmorphol 2002 0.83
30 Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A 2013 0.81
31 Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. Eur J Hum Genet 2010 0.80
32 Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. Prenat Diagn 2013 0.80
33 Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. Am J Med Genet A 2009 0.79
34 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis 2014 0.79
35 Juvenile papillomatosis of the breast associated with neurofibromatosis 1. Pediatr Blood Cancer 2007 0.79
36 Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome? Am J Med Genet A 2011 0.79
37 Implementation of written consent for newborn screening in Victoria, Australia. J Paediatr Child Health 2013 0.79
38 A case for cystic fibrosis carrier testing in the general population. Med J Aust 2011 0.78
39 De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features. Eur J Med Genet 2010 0.78
40 Anaplastic oligodendroglioma in an adolescent with Lynch syndrome. Pediatr Blood Cancer 2012 0.78
41 Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia. Cleft Palate Craniofac J 2009 0.77
42 Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy. Int J Stroke 2014 0.76
43 Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome. Genet Med 2010 0.76
44 Non-invasive prenatal diagnosis--toward a new horizon. Med J Aust 2009 0.75
45 Genomic imprinting, small babies and assisted reproduction. Eur J Hum Genet 2008 0.75
46 Considerations for reporting genome results to patients. J Paediatr Child Health 2013 0.75
47 Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure. Prenat Diagn 2014 0.75
48 Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome. Am J Med Genet A 2007 0.75
49 Prenatal cortical hyperostosis (Caffey disease). Pediatr Radiol 2002 0.75
50 Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. Am J Med Genet A 2008 0.75