PubRank

Cheryl Shuman

Author PubWeight™ 36.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Human chromosome 7: DNA sequence and biology. Science 2003 3.02
2 Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010 2.85
3 Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 2002 2.33
4 Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010 2.15
5 Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005 1.89
6 Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years. J Urol 2012 1.52
7 Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol 2008 1.51
8 Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril 2007 1.42
9 Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician 2009 1.40
10 Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res 2009 1.29
11 Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2013 1.16
12 High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet 2013 0.95
13 Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy. J Am Soc Nephrol 2002 0.95
14 Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A 2012 0.93
15 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. J Genet Couns 2012 0.93
16 Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord 2013 0.91
17 Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr 2003 0.90
18 Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics 2002 0.89
19 Interactive genetic counseling role-play: a novel educational strategy for family physicians. J Genet Couns 2008 0.89
20 Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 2007 0.89
21 WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics 2011 0.87
22 Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A 2009 0.86
23 Breast and ovarian cancer: the forgotten paternal contribution. J Genet Couns 2011 0.85
24 Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Am J Med Genet A 2012 0.82
25 Breast and ovarian cancer: Y do we forget about dad? Lancet Oncol 2010 0.81
26 Examining risk perception among men with a family history of prostate cancer. Patient Educ Couns 2011 0.81
27 Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram. Clinics (Sao Paulo) 2009 0.80
28 Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. Am J Med Genet A 2012 0.79
29 The cycle of genome-directed medicine. Genome Med 2009 0.78
30 Predictive genomic testing of children for adult onset disorders: a Canadian perspective. Am J Bioeth 2014 0.77
31 Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Can Fam Physician 2013 0.75
32 Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control. J Genet Couns 2011 0.75
33 Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2014 0.75
34 Games in clinical genetic counseling supervision. J Genet Couns 2006 0.75