PubRank

Ravi Savarirayan

Author PubWeight™ 79.05‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011 4.27
2 Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004 4.09
3 Osteopetrosis. Orphanet J Rare Dis 2009 3.69
4 Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009 1.89
5 Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 2011 1.70
6 Retracted Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA 2007 1.69
7 Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 2011 1.66
8 Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum 2010 1.66
9 Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet 2003 1.59
10 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 2010 1.53
11 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat 2005 1.46
12 Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol 2011 1.41
13 Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol 2012 1.40
14 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet 2011 1.34
15 The mutational spectrum of brachydactyly type C. Am J Med Genet 2002 1.22
16 Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet 2009 1.21
17 TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat 2004 1.21
18 International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A 2014 1.19
19 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 2011 1.13
20 Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res 2011 1.12
21 Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN. Mamm Genome 2007 1.11
22 Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet 2011 1.07
23 Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci 2009 1.00
24 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat 2011 0.99
25 Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res 2010 0.98
26 Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Am J Med Genet A 2003 0.98
27 Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet 2009 0.97
28 Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet A 2007 0.97
29 TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet 2012 0.96
30 Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 0.96
31 The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 2010 0.95
32 Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 2006 0.95
33 Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis. Arthritis Rheum 2009 0.94
34 Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A 2010 0.92
35 Are Duane syndrome and infantile esotropia allelic? Ophthalmic Genet 2004 0.90
36 Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med Genet A 2009 0.90
37 In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Hum Mutat 2009 0.90
38 Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. Am J Med Genet A 2003 0.89
39 A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. Am J Med Genet A 2005 0.88
40 Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles. Ann Plast Surg 2005 0.88
41 Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A 2006 0.87
42 Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3. Am J Med Genet A 2005 0.86
43 An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. Am J Med Genet A 2007 0.86
44 Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS Genet 2013 0.86
45 Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. Eur J Hum Genet 2011 0.86
46 Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A 2005 0.85
47 Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter. Ophthalmic Genet 2005 0.85
48 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet 2010 0.85
49 TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis 2011 0.85
50 Retracted A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome? Atherosclerosis 2009 0.85
51 Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. Plast Reconstr Surg 2006 0.85
52 Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate. Int J Paediatr Dent 2013 0.82
53 Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health 2011 0.82
54 Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. Am J Med Genet A 2003 0.82
55 Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy. Childs Nerv Syst 2012 0.80
56 The collagenopathies: review of clinical phenotypes and molecular correlations. Curr Rheumatol Rep 2014 0.80
57 Medial temporal lobe dysgenesis in hypochondroplasia. Am J Med Genet A 2005 0.80
58 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. Mol Vis 2010 0.79
59 The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 2013 0.79
60 Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. Am J Med Genet A 2006 0.79
61 A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? Clin Dysmorphol 2007 0.79
62 Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly. Hum Mutat 2004 0.78
63 Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. Am J Med Genet A 2005 0.78
64 Familial digital arthropathy-brachydactyly. Am J Med Genet 2002 0.78
65 Lethal metatropic dysplasia: a case report. Pathology 2007 0.78
66 Primary trabeculodysgenesis in association with neonatal Marfan syndrome. Am J Med Genet A 2004 0.77
67 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
68 Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. Am J Med Genet A 2013 0.77
69 Jaw lesions and hyperparathyroidism. J Oral Maxillofac Surg 2004 0.76
70 Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr 2010 0.76
71 The male phenotype in osteopathia striata congenita with cranial sclerosis. Am J Med Genet A 2011 0.76
72 Isolated and syndromic syngnathism: management, implications, and genetics. Ann Plast Surg 2006 0.75
73 The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study. J Community Genet 2014 0.75
74 Retraction notice to "A role for plasma transforming growth factor-β and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?” [Atherosclerosis 209(1) (2010) 211-214]. Atherosclerosis 2016 0.75
75 Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. Am J Med Genet A 2008 0.75
76 Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? Clin Dysmorphol 2003 0.75
77 Prenatal cortical hyperostosis (Caffey disease). Pediatr Radiol 2002 0.75
78 Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Prenat Diagn 2003 0.75