PubRank

Karen W Gripp

Author PubWeight™ 53.50‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012 4.51
2 Human chromosome 7: DNA sequence and biology. Science 2003 3.02
3 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012 2.70
4 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013 1.76
5 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012 1.70
6 Clinical and molecular diagnosis should be consistent. Am J Med Genet A 2003 1.44
7 Paternal bias in parental origin of HRAS mutations in Costello syndrome. Hum Mutat 2006 1.39
8 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
9 Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002 1.26
10 Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A 2011 1.24
11 Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet 2013 1.22
12 Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005 1.17
13 Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet 2011 1.08
14 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet A 2009 1.08
15 Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am J Med Genet A 2007 1.07
16 Longitudinal assessment of cognitive characteristics in Costello syndrome. Am J Med Genet A 2007 1.03
17 Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet 2005 1.03
18 Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. Am J Med Genet A 2005 1.01
19 Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 2004 0.99
20 The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A 2013 0.97
21 Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg 2004 0.96
22 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. Prenat Diagn 2009 0.96
23 Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. Am J Med Genet A 2009 0.93
24 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
25 Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet A 2004 0.93
26 Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A 2011 0.92
27 Costello syndrome and related disorders. Curr Opin Pediatr 2007 0.92
28 Living with Costello syndrome: quality of life issues in older individuals. Am J Med Genet A 2010 0.91
29 The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A 2008 0.88
30 Assessing genotype-phenotype correlation in Costello syndrome using a severity score. Genet Med 2013 0.83
31 Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. Pediatr Blood Cancer 2013 0.83
32 Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review. Am J Med Genet C Semin Med Genet 2011 0.82
33 CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review. Am J Med Genet A 2011 0.82
34 Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory. Am J Med Genet A 2013 0.82
35 Orthopedic manifestations and implications for individuals with Costello syndrome. Am J Med Genet A 2013 0.81
36 Neuromotor synapses in Escobar syndrome. Am J Med Genet A 2013 0.80
37 Craniosynostosis: another feature of the 22q11.2 deletion syndrome. Am J Med Genet A 2005 0.79
38 Clarification of previously reported Costello syndrome patients. Am J Med Genet A 2008 0.78
39 Normative growth charts for individuals with Costello syndrome. Am J Med Genet A 2012 0.78
40 Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A 2012 0.77
41 Special Section. Syndrome-specific growth charts. Am J Med Genet A 2012 0.77
42 Preaxial hallucal polydactyly as a marker for diabetic embryopathy. Birth Defects Res A Clin Mol Teratol 2009 0.77
43 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency. Am J Med Genet A 2004 0.77
44 Wilms tumor in an 11-year-old with hemihyperplasia. Am J Med Genet A 2005 0.77
45 Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. Am J Med Genet A 2011 0.75
46 Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease. Pediatr Dev Pathol 2014 0.75
47 Selective IgM deficiency and 22q11.2 deletion syndrome. Ann Allergy Asthma Immunol 2007 0.75
48 Genetics of colorectal cancer. N Engl J Med 2003 0.75
49 X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. Am J Med Genet A 2010 0.75
50 Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A 2010 0.75