Stephanie L. Sherman

Stephanie L. Sherman's AcademicInfluence.com Rankings

Biology

#11858

World Rank

#15286

Historical Rank

Genetics

#1293

World Rank

#1395

Historical Rank

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Biology

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Stephanie L. Sherman's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

FMR1 and the fragile X syndrome: Human genome epidemiology review (2001) (619)
Epidemiology of Down syndrome. (2007) (453)
Association of FMR1 repeat size with ovarian dysfunction. (2005) (417)
Population-based study of congenital heart defects in Down syndrome. (1998) (416)
Premature ovarian failure in the fragile X syndrome. (2000) (410)
Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II (1996) (382)
The marker (X) syndrome: a cytogenetic and genetic analysis (1984) (381)
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. (2003) (367)
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. (2009) (365)
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. (2000) (358)
The FMR1 premutation and reproduction. (2007) (357)
Fragile X syndrome: Diagnostic and carrier testing (2005) (286)
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project (2008) (253)
Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. (1995) (235)
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. (1997) (222)
Recombination and nondisjunction in humans and flies. (1996) (220)
Examination of reproductive aging milestones among women who carry the FMR1 premutation. (2007) (209)
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. (2007) (198)
Non-disjunction in human sperm: evidence for an effect of increasing paternal age. (1995) (192)
Recombination rate and reproductive success in humans (2004) (191)
Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. (1996) (188)
Familial transmission of the FMR1 CGG repeat. (1996) (185)
Trisomy 21: association between reduced recombination and nondisjunction. (1991) (182)
New Insights into Human Nondisjunction of Chromosome 21 in Oocytes (2008) (181)
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. (1991) (174)
Down syndrome (2020) (174)
Development and validation of the Arizona Cognitive Test Battery for Down syndrome (2010) (169)
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. (1994) (168)
Effect of meiotic recombination on the production of aneuploid gametes in humans (2005) (167)
Down syndrome: genetic recombination and the origin of the extra chromosome 21 (2000) (167)
Genetic Analysis of Variation in Human Meiotic Recombination (2009) (167)
Human genes containing polymorphic trinucleotide repeats (1992) (152)
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects (2009) (152)
Further segregation analysis of the fragile X syndrome with special reference to transmitting males (2004) (146)
Prevalence of the fragile X syndrome in African-Americans. (2002) (145)
FMR1 and the continuum of primary ovarian insufficiency. (2011) (144)
The Relation of the Dopamine Transporter Gene (DAT1) to Symptoms of Internalizing Disorders in Children (1998) (144)
Trisomy in humans: incidence, origin and etiology. (1993) (140)
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment (2017) (139)
Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome. (2000) (139)
Association between maternal age and meiotic recombination for trisomy 21. (2005) (139)
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. (1999) (133)
Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles (2013) (117)
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals (2004) (117)
Associated features in females with an FMR1 premutation (2014) (115)
Counting cross-overs: characterizing meiotic recombination in mammals. (2000) (111)
Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis (1992) (111)
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. (2012) (103)
Risk factors for nondisjunction of trisomy 21 (2005) (102)
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. (1998) (102)
Germline mutation of microRNA-125a is associated with breast cancer (2009) (100)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome (2006) (89)
Fragile X analysis of 1112 prenatal samples from 1991 to 2010 (2011) (88)
Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a spopulation-based case-control study (1999) (86)
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site. (1992) (82)
The National down Syndrome Project: Design and Implementation (2007) (81)
Paternal nondisjunction in trisomy 21: excess of male patients. (1993) (78)
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. (2012) (77)
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome (2010) (76)
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. (1998) (75)
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. (2008) (74)
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? (2000) (72)
Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders (2007) (72)
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. (2016) (72)
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. (2008) (70)
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns (1994) (70)
The cognitive neuropsychological phenotype of carriers of the FMR1 premutation (2014) (69)
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS) (2011) (69)
Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population (2012) (67)
Cytogenetic and molecular studies of Down syndrome individuals with leukemia. (1995) (67)
Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines (2008) (65)
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. (1996) (63)
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. (2002) (63)
Investigation of Phenotypes Associated with Mood and Anxiety Among Male and Female Fragile X Premutation Carriers (2008) (61)
Examination of FMR1 transcript and protein levels among 74 premutation carriers (2010) (61)
Conference report: Fourth International Workshop on the fragile X and X-linked mental retardation. (1988) (58)
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association (2009) (57)
Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey (2021) (56)
Guidelines for human linkage maps An International System for Human Linkage Maps (ISLM, 1990) (1991) (56)
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population. (2000) (56)
Examination of factors associated with instability of the FMR1 CGG repeat. (1998) (55)
A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. (1988) (53)
Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis (2005) (52)
Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. (2011) (52)
Normal variation at the myotonic dystrophy locus in global human populations. (1995) (52)
Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19 (1986) (51)
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) (2014) (50)
Further segregation analysis of the fragile X syndrome with special reference to transmitting males (2004) (50)
Neuropsychiatric and behavioral aspects of trisomy 21 (2007) (50)
Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. (1991) (48)
Examination of the Effect of the Polymorphic CGG Repeat in the FMR1 Gene on Cognitive Performance (2005) (48)
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). (1991) (47)
Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions (2014) (46)
Significance of linkage disequilibrium between the fragile X locus and its flanking markers. (1996) (44)
Consensus characterization of 16 FMR1 reference materials: a consortium study. (2008) (44)
Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation (2008) (44)
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature (2009) (43)
Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X (2012) (43)
The FMR1 Premutation and Attention-Deficit Hyperactivity Disorder (ADHD): Evidence for a Complex Inheritance (2012) (42)
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. (2000) (42)
Segregation analysis of balanced pericentric inversions in pedigree data (1986) (42)
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. (2000) (40)
Behavioral genetics '97: ASHG statement. Recent developments in human behavioral genetics: past accomplishments and future directions. (1997) (40)
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21 (2012) (40)
Predictors and risk model development for menopausal age in fragile X premutation carriers (2011) (37)
An n-allele model for progressive amplification in the FMR1 locus. (1995) (37)
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. (1995) (36)
Fragile X‐associated primary ovarian insufficiency: evidence for additional genetic contributions to severity (2008) (36)
Policy Statement: American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing (1994) (36)
Distribution of lod scores under uncertain mode of inheritance. (1993) (36)
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 (2012) (36)
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project (2013) (35)
Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers. (2011) (34)
Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21. (2006) (34)
Bias associated with study protocols in epidemiologic studies of disease familial aggregation. (2000) (34)
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome (2017) (33)
Cognitive aspects of Fragile X syndrome. (2014) (33)
Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey (2007) (33)
Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. (1996) (33)
Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects (2011) (33)
The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects. (2017) (33)
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. (2000) (32)
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI) (2016) (32)
Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. (2012) (32)
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery (2008) (32)
Investigation of factors associated with paternal nondisjunction of chromosome 21 (2009) (32)
Inherited genetic susceptibility of acute lymphoblastic leukemia in Down syndrome. (2019) (31)
Down syndrome: national conference on patient registries, research databases, and biobanks. (2011) (31)
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles (2019) (31)
Report of the committee on the genetic constitution of chromosome 1. (1988) (30)
CYP17 genotype predicts serum hormone levels among pre-menopausal women. (2005) (30)
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project (2013) (30)
Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity (2020) (29)
Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status (2004) (29)
Genetic Analysis Workshop 7: summary of the melanoma workshop. (1992) (28)
Clustering of comorbid conditions among women who carry an FMR1 premutation (2020) (27)
Genetic Control of Hotspots (2010) (26)
Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project. (2018) (26)
A revised map of chromosome 1 (1984) (25)
The origin of non-disjunction in humans (1993) (25)
The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population? (1995) (25)
Smarter clustering methods for SNP genotype calling (2008) (24)
Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome (2019) (24)
Estimating meiotic exchange patterns from recombination data: an application to humans. (1997) (24)
The origin of trisomy in humans. (1995) (24)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Linkage disequilibrium mapping in trisomic populations: Analytical approaches and an application to congenital heart defects in Down syndrome (2004) (23)
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. (2014) (23)
Improved prenatal detection of fra(X)(q27.3): methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures. (1991) (23)
FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy (1998) (23)
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects (2015) (22)
Decisions to participate in fragile X and other genomics-related research: Native American and African American voices. (2009) (22)
An international survey on the impact of COVID-19 in individuals with Down syndrome (2020) (22)
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21 (2019) (22)
Abstracts for the committee on the genetic constitution of chromosome 1 (1991) (21)
Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes. (2002) (21)
Seventh International Workshop on the Fragile X and X-linked Mental Retardation. (1996) (21)
Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects (2014) (21)
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review (2018) (21)
Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome (2015) (20)
Report of the committee on linkage and gene order. (1990) (20)
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey (2021) (20)
Recurrence risks for relatives in families with an isolated case of the fragile X syndrome. (1988) (19)
Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome. (2011) (19)
An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction (2014) (18)
The fragile (X) syndrome: the mutation problem. (1986) (18)
Opportunities, barriers, and recommendations in down syndrome research (2021) (17)
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study (2014) (17)
Multipoint estimation of genetic maps for human trisomies with one parent or other partial data. (2000) (17)
Methods for genetic linkage analysis using trisomies. (1995) (17)
Association between telomere length and chromosome 21 nondisjunction in the oocyte (2015) (16)
Ovarian histopathological and ubiquitin‐immunophenotypic features in fragile X‐associated primary ovarian insufficiency: a study of five cases and selected controls (2011) (15)
A genetic map of chromosome 19 based on family linkage data (1985) (15)
Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid. (2017) (15)
Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome (1998) (14)
Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. (1994) (14)
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects (2017) (14)
Recombination across the centromere of disjoined and non-disjoined chromosome 21. (2003) (14)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Genetic Diversity of the Fragile X Syndrome Gene (FMR1) in a Large Sub‐Saharan West African Population (2010) (13)
Evolving methods in genetic epidemiology. IV. Approaches to non-Mendelian inheritance. (1997) (13)
Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis (2021) (13)
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1. (1994) (12)
Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling (2021) (12)
A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay (2008) (12)
Recent Developments in Human Behavioral Genetics : Past Accomplishments and Future Directions (2007) (11)
The association between maternal occupation and down syndrome: A report from the national Down syndrome project. (2019) (11)
Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome (2017) (11)
Segregation analysis of rare autosomal fragile sites (1986) (11)
Report of the committee on the genetic constitution of chromosome 1. (1989) (10)
A PCR-based genetic map for human chromosome 3. (1994) (10)
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction. (2003) (10)
Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin (2016) (10)
Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families (2012) (10)
Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women. (1988) (10)
A counseling guide to the Martin-Bell syndrome. (1987) (10)
Investigation of the twinning rate in families with the fragile X syndrome. (1988) (10)
Genome-Wide Association Study of Meiotic Recombination Phenotypes (2016) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies. (1988) (9)
Abstracts for the committee on comparative gene mapping (1991) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size (2021) (9)
Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress. (2019) (8)
Fragile X syndrome: examination of issues pertaining to population-based screening (1996) (8)
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome (2020) (8)
Improving Health Education for Women Who Carry an FMR1 Premutation (2016) (8)
The Origin and Etiology of Trisomy 21 (2003) (7)
Statistical models for trisomic phenotypes. (1996) (7)
A trisomic transmission disequilibrium test (2004) (7)
Regionally Smoothed Meta‐Analysis Methods for GWAS Datasets (2016) (7)
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length (2017) (7)
Gestational age is related to symptoms of attention-deficit/hyperactivity disorder in late-preterm to full-term children and adolescents with down syndrome (2020) (6)
Epidemiology of Fragile X Syndrome (2017) (6)
Testing for contributions of mitochondrial DNA mutations to complex diseases (1998) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Attendance at Fragile X Specialty Clinics: Facilitators and Barriers. (2017) (6)
Genetic epidemiology of the fragile X syndrome with special reference to genetic counseling. (1991) (6)
Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map. (1993) (6)
Collaborative prospective study of the fragile X syndrome: one-year progress report. (1992) (6)
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes. (2019) (5)
Abstracts for the committee on the genetic constitution of chromosome 17 (1991) (5)
Modeling the natural history of the fragile X gene (1995) (5)
Abstracts for the committee on the genetic constitution of the X chromosome (Part 3 of 3) (1991) (5)
Maternal Age and Oocyte Aneuploidy: Lessons Learned from Trisomy 21 (2013) (5)
Clinical Manifestation and Management of FXPOI (2016) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation (2018) (5)
Genetic epidemiologic methods to screen for matrilineal inheritance in mitochondrial disorders (1996) (5)
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. (1985) (5)
Laboratory aspects of prenatal fra(X) detection. (1991) (5)
A new genetic model for the fragile X syndrome involving an autosomal suppressor gene--comments on the paper by M.H. Israel. (1987) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material (2020) (5)
Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome (2021) (5)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
Abstracts for the committee on the genetic constitution of chromosome 2 (1991) (4)
The FMR1 Premutation and Attention-Deficit Hyperactivity Disorder (ADHD): Evidence for a Complex Inheritance (2011) (4)
CGG‐repeat polymorphism of the BCR gene rules out predisposing alleles leading to the philadelphia chromosome (1994) (4)
Analytic strategies for stroke genetics. (2002) (4)
Correction of the evaluation of recombination in meiosis I and II nondisjunction in trisomy 21. (1992) (4)
A branching non‐linear autoregressive model for the transmission of the fragile X dynamic repeat mutation (1998) (4)
Recommendations from Multi-disciplinary Focus Groups (2007) (4)
Abstracts for the committee on the genetic constitution of chromosome 6 (1991) (4)
COVID-19 Vaccination of Individuals with Down Syndrome—Data from the Trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to Be Vaccinated (2022) (3)
Hypothesis regarding the nature of the fragile X mutation (1987) (3)
Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation (2021) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21 (2021) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes (2009) (3)
Abstracts for the committee on the genetic constitution of chromosome 12 (1991) (3)
Multipoint genetic mapping with trisomy data. (2001) (3)
Abstracts for the committee on chromosomal changes in neoplasia (1991) (3)
The method of sib‐pair linkage analysis in context of case‐control design (1997) (3)
Abstracts for the committee on the genetic constitution of chromosome 15 (1991) (3)
Abstracts for the committee on the genetic constitution of chromosome 16 (1991) (2)
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation (2021) (2)
Genotype/Phenotype Relationships in FXTAS (2010) (2)
Model systems for understanding FXPOI (2016) (2)
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21 (2011) (2)
Study of telomere length in men who carry a fragile X premutation or full mutation allele (2020) (2)
Studying nondisjunction of chromosome 21 with cytogenetic markers on the short arm and DNA markers encompassing the long arm. (1989) (2)
Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome (2021) (2)
Preventive care services and health behaviors in children with fragile X syndrome. (2019) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Corrigendum: Human genes containing polymorphic trinucleotide repeats (1993) (2)
Erratum: Human genes containing polymorphic trinucleotide repeats (Nature Genetics 2, 186-191 (1992)) (1993) (2)
Response to Stene's comments on the segregation of balanced pericentric inversions (1986) (2)
An application of empirical Bayes methods to updating linkage information on chromosome 21. (1992) (2)
Chapter 3 Trisomy 21: Causes and Consequences (2008) (2)
Abstracts for the committee on the genetic constitution of chromosome 22 (1991) (2)
Collaborative prospective study of the fragile X syndrome: request for participation. (1991) (2)
Abstracts for the committee on the genetic constitution of chromosome 11 (1991) (2)
Erratum: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: Feasibility, practice effects, test-retest reliability, and construct validity (Journal of Neurodevelopmental Disorders (2020) 12 (10) DOI: 10.1186/s11689-020-09313-6) (2020) (2)
Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity (2020) (2)
FMR1 CGG expansion to full mutation: What is the lower limit in premutation females? (2000) (2)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
Abstracts for the committee on the genetic constitution of chromosome 9 (1991) (1)
Abstracts for the committee on the genetic constitution of chromosome 4 (1991) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Increased disomic homozygosity in the telomeric region of chromosome 21 among Down Syndrome individuals with duodenal atresia (1994) (1)
Abstracts for the committee on the genetic constitution of the Y chromosome (1991) (1)
Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods (1995) (1)
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) (2014) (1)
Genetic basis for primary ovarian insufficiency (2012) (1)
Abstracts for the committee on the genetic constitution of chromosome 7 (2004) (1)
Genetic analysis workshop II: Combined segregation, linkage, and association analysis (1984) (1)
Abstracts for the committee on the genetic constitution of chromosome 10 (1991) (1)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Abstract 222: Genome-wide association study of acute lymphoblastic leukemia in children with Down syndrome (2018) (1)
associated with breast cancer Germline mutation of microRNA-125a is (2009) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
Identification of PSMB5 as a genetic modifier of fragile X–associated tremor/ataxia syndrome (2022) (1)
Abstracts for the committee on the genetic constitution of chromosome 13 (1991) (1)
Contents Vol. 55, 1990 (1990) (1)
Predictors of Cognitive Decline in FXTAS (P5.386) (2016) (0)
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society (2021) (0)
An empirical bayesian approach for testing gene expression fold change and its application in detecting global dosage effects (2020) (0)
Men with an FMR1 premutation and their health education needs (2021) (0)
Abstracts for the comparative subcommittee on human and mouse homologies (1991) (0)
CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero (2019) (0)
Subject index Vol. 40, 1985 (1985) (0)
Abstracts for the committee on the genetic constitution of chromosome 5 (1991) (0)
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome (2022) (0)
Contributors and Participants (1982) (0)
Contributors and Participants (1982) (0)
A Parent-Response Screening Inventory for Fragile X Syndrome: Development & Testing with an International Sample (2013) (0)
Abstracts for the committee on the mitochondrial genome (1991) (0)
Scanning electron microscopy of pneumocoptes penrosei (Weidman) from the black-tailed prairie dog, Cynomys ludovicianus (1988) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. (1975) (0)
Abstracts for the committee on the genetic constitution of chromosome 19 (1991) (0)
Arizona Cognitive Test Battery (2017) (0)
Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey (2022) (0)
Abstractsfor the DNA committee (1991) (0)
Abstracts for the committee on the genetic constitution of chromosome 18 (1991) (0)
Study of telomere length in men who carry a fragile X premutation or full mutation allele (2020) (0)
Abstracts for the committee on clinical disorders and chromosomal deletion syndromes (1991) (0)
Combining genetic and physical maps (1991) (0)
Co‐occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013–2017: A U.S. population‐based analysis (2021) (0)
The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI) (2022) (0)
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia. (2023) (0)
Genetic analysis workshop IV: Summary for coeliac disease (1987) (0)
Pilot Evaluation of the Biopsychosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX) with an Extended African American Family (2012) (0)
An association between melotic recombination and advancing maternal age for trisomy 21 (2003) (0)
Abstracts for the committee on the genetic constitution of chromosome 14 (1991) (0)
Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome (2019) (0)
Index by Keyword (1989) (0)
Category Smarter Clustering Methods for SNP Genotype Calling (2008) (0)
Abstracts for the committee on linkage and gene order (1991) (0)
Association between telomere length and chromosome 21 nondisjunction in the oocyte (2015) (0)
Abstractsfor the informatics committee (1991) (0)
Cytogenetic andMolecular Studies ofDown Syndrome Individuals withLeukemia (1995) (0)
Abstracts for the committee on the genetic constitution of chromosome 20 (1991) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Newton E. Morton (1929-2018). (2018) (0)
Abstracts dscribing resources, technological and other developments (1991) (0)
Comparison of the Characteristics, Morbidity, and Mortality of COVID-19 and Other Viral and Bacterial Pneumonia in Individuals with Down Syndrome: A Retrospective Cohort Study in Spain (2021) (0)
Mapping strategies for multiple linked markers. (1989) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Insufficiency in Mice (2012) (0)
Index of GDB source ID numbers (1991) (0)
List of Contributors (2019) (0)
Autonomic Dysfunction in the Fragile X Associated Tremor/Ataxia Syndrome (PD2.007) (2013) (0)
Abstracts for the committee on the genetic constitution of chromosome 21 (1991) (0)
Abstracts for the committee on the genetic constitution of the X chromosome (Part 2 of 3) (2004) (0)
Trisomy21:Association betweenReducedRecombination andNondisjunction (1991) (0)
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (2022) (0)
Sequential sib‐pair and association studies to detect genes in quantitative traits (1997) (0)
Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis (2021) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
Abstracts for the committee on the genetic constitution of chromosome 8 (1991) (0)
Index by Abstract Number (1989) (0)
Subject Index Vol. 58, 1991 (1991) (0)
Reproductive endocrinology Intra-individual stability over time of standardized anti-Müllerian hormone in FMR 1 premutation carriers (2011) (0)
Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling (2021) (0)
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome (2021) (0)

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