PubRank

Judith E Allanson

Author PubWeight™ 22.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010 2.56
2 Noonan syndrome. Lancet 2013 2.13
3 3D analysis of facial morphology. Am J Med Genet A 2004 1.95
4 Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet 2005 1.71
5 Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Hum Mutat 2012 1.71
6 SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics 2013 1.58
7 Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A 2010 1.36
8 A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 2003 1.32
9 Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005 1.17
10 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis 2013 0.93
11 Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. Am J Med Genet A 2008 0.93
12 Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37. Am J Med Genet A 2005 0.83
13 Elements of morphology: standard terminology for the external genitalia. Am J Med Genet A 2013 0.80
14 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. Am J Med Genet A 2012 0.80
15 Elements of morphology: general terms for congenital anomalies. Am J Med Genet A 2013 0.80
16 Special Section. Syndrome-specific growth charts. Am J Med Genet A 2012 0.77
17 Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. Vasc Med 2012 0.77
18 De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet A 2003 0.76
19 A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter). Clin Dysmorphol 2008 0.75
20 The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers. J Contin Educ Health Prof 2016 0.75
21 Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation. Clin Dysmorphol 2009 0.75
22 Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism. Am J Med Genet A 2012 0.75