PubRank

Stephanie L Sherman

Author PubWeight™ 65.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The FMR1 premutation and reproduction. Fertil Steril 2006 3.85
2 Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003 2.71
3 Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009 2.12
4 Genetic analysis of variation in human meiotic recombination. PLoS Genet 2009 2.11
5 Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet 2002 2.07
6 A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet 2004 1.88
7 New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet 2008 1.68
8 Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet 2012 1.57
9 Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 2008 1.36
10 The National Down Syndrome Project: design and implementation. Public Health Rep 2007 1.35
11 No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet 2008 1.29
12 Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet 2002 1.25
13 Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 2004 1.23
14 Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn 2011 1.23
15 Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet 2008 1.22
16 Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet 2009 1.20
17 Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A 2013 1.19
18 Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord 2010 1.15
19 Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol 2010 1.14
20 Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers. Behav Genet 2008 1.12
21 Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn 2007 1.09
22 Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med 2008 1.08
23 CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A 2006 1.07
24 New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics 2011 1.06
25 Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genet Med 2009 1.04
26 Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol 2004 1.03
27 Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet 2012 1.03
28 An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet 2012 1.01
29 Genetics. Genetic control of hotspots. Science 2010 1.01
30 Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet 2011 0.99
31 Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genet Epidemiol 2008 0.99
32 The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance. Behav Genet 2011 0.96
33 Decisions to participate in fragile X and other genomics-related research: Native American and African American voices. J Cult Divers 2009 0.94
34 Women's attitudes toward testing for fragile X carrier status: a qualitative analysis. J Genet Couns 2005 0.93
35 Smarter clustering methods for SNP genotype calling. Bioinformatics 2008 0.93
36 Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects. Am J Med Genet A 2011 0.92
37 Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. Am J Med Genet A 2013 0.90
38 Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms. Am J Med Genet B Neuropsychiatr Genet 2012 0.89
39 Investigation of factors associated with paternal nondisjunction of chromosome 21. Am J Med Genet A 2009 0.89
40 Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med 2011 0.88
41 Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency. Ann N Y Acad Sci 2008 0.88
42 Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth Defects Res A Clin Mol Teratol 2011 0.87
43 A trisomic transmission disequilibrium test. Genet Epidemiol 2004 0.86
44 Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics 2012 0.85
45 Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status. Genet Med 2004 0.84
46 Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. Hum Mol Genet 2013 0.83
47 CYP17 genotype predicts serum hormone levels among pre-menopausal women. Hum Reprod 2005 0.82
48 Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. Ann Hum Genet 2010 0.82
49 Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. J Genet Couns 2007 0.81
50 Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome. Neuropsychology 2011 0.81
51 Olfactory dysfunction in fragile X tremor ataxia syndrome. Mov Disord 2012 0.80
52 A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay. Nucleic Acids Res 2008 0.79
53 Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls. Histopathology 2011 0.78
54 Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction. Am J Hum Genet 2002 0.78
55 Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI). Menopause 2016 0.76
56 The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project. Genet Med 2013 0.75
57 A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes. Stat Biosci 2009 0.75