PubRank

Carol L Clericuzio

Author PubWeight™ 16.23‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr 2006 1.48
2 Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 2007 1.16
3 Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A 2003 1.10
4 Athabascan brainstem dysgenesis syndrome. Am J Med Genet A 2003 1.05
5 Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A 2004 1.04
6 Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A 2013 1.04
7 Limb hyperplasia: case report of an unusual variant of Klippel-Trenaunay syndrome and review of the literature. Cutis 2009 0.99
8 Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A 2011 0.97
9 Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A 2005 0.97
10 Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet 2013 0.93
11 Diagnosing xeroderma pigmentosum group C by immunohistochemistry. Am J Dermatopathol 2010 0.87
12 Pierre Robin sequence associated with first trimester fetal tamoxifen exposure. Am J Med Genet A 2008 0.84
13 Deaths due to choking in Prader-Willi syndrome. Am J Med Genet A 2007 0.84
14 A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. Am J Med Genet A 2011 0.84
15 Mucocutaneous squamous papilloma with reactive lymphoid hyperplasia in two patients with focal dermal hypoplasia. Pediatr Dev Pathol 2005 0.81
16 A new hypothesis of OCA1B. Am J Med Genet A 2008 0.80
17 Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet A 2008 0.77
18 Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome. J Pediatr Hematol Oncol 2008 0.75