Stephanie Sherman PhD
Overview
Stephanie L. Sherman obtained her Ph.D. in Human Genetics from Indiana University School of Medicine in 1981 and is currently a Professor in the Department of Human Genetics at Emory University in Atlanta, GA. Her training is in the area of genetic epidemiology and she has been involved in coordination of multi-site projects to unravel the genetic architecture of complex traits and to understand potential gene-environment interactions. Currently, she is involved in research to understand the causes and consequences of trisomy 21, or Down syndrome. She is the co-Director of the Down Syndrome Center at Emory University, a center that combines clinical care, clinical trials and research, and education related to Down syndrome. Current research projects include: 1) identifying risk factors associated with chromosome 21 nondisjunction and 2) identifying genes and environmental factors that explain the large variation in severity of Down syndrome-associated conditions, including cognition and behavior. Dr. Shermans other research program focuses on the identifying genes that modify the presentation of fragile X-associated disorders, including co-occurring conditions (e.g. seizures) among those with fragile X syndrome, age of onset of fragile X-associated primary ovarian failure (FXPOI) among women with the FMR1 premutation, and age of onset and severity of fragile X-associated tremor/ataxia syndrome (FXTAS) among men with the FMR1 premutation. All projects have the goal to identify perturbed biological pathways for targets of therapeutic interventions. Lastly, Dr. Sherman is involved in training graduate students and post-doctoral fellows in genetic epidemiology.
Areas of Specialization
-Genetic causes of intellectual and developmental disorders
-Nondisjunction of human chromosomes
-Primary ovarian insufficiency
-Genetic mapping of complex traits
-Fragile X syndrome
-Down syndrome
Academic Appointment
- Professor, Department of Epidemiology, Emory University School of Public Health
- Professor, Department of Human Genetics, Emory University School of Medicine
Education
Degrees
- PhD from Indiana University Medical School
- BS from North Carolina State University
Research
Publications
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Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.
J Autism Dev Disord Volume: 54 Page(s): 725 - 737
02/01/2024 Authors: Kaufmann WE; Raspa M; Bann CM; Gable JM; Harris HK; Budimirovic DB; Lozano R; FORWARD Consortium -
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.
EBioMedicine Volume: 95 Page(s): 104758
09/01/2023 Authors: Recto K; Kachroo P; Huan T; Van Den Berg D; Lee GY; Bui H; Lee DH; Gereige J; Yao C; Hwang S-J -
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood Volume: 142 Page(s): 172 - 184
07/13/2023 Authors: Li Z; Chang T-C; Junco JJ; Devidas M; Li Y; Yang W; Huang X; Hedges DJ; Cheng Z; Shago M -
Author Correction: Clonal haematopoiesis and risk of chronic liver disease.
Nature Volume: 619 Page(s): E47
07/01/2023 Authors: Wong WJ; Emdin C; Bick AG; Zekavat SM; Niroula A; Pirruccello JP; Dichtel L; Griffin G; Uddin MM; Gibson CJ -
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society.
Mol Syndromol Volume: 14 Page(s): 89 - 100
04/01/2023 Authors: Hamlett ED; Flores-Aguilar L; Handen B; Potier M-C; Granholm A-C; Sherman S; Puig V; Santoro JD; Carmona-Iragui M; Rebillat A-S -
Clonal haematopoiesis and risk of chronic liver disease.
Nature Volume: 616 Page(s): 747 - 754
04/01/2023 Authors: Wong WJ; Emdin C; Bick AG; Zekavat SM; Niroula A; Pirruccello JP; Dichtel L; Griffin G; Uddin MM; Gibson CJ -
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).
J Assist Reprod Genet Volume: 40 Page(s): 179 - 190
01/01/2023 Authors: Poteet B; Ali N; Bellcross C; Sherman SL; Espinel W; Hipp H; Allen EG -
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.
Nat Genet Volume: 55 Page(s): 154 - 164
01/01/2023 Authors: Li X; Quick C; Zhou H; Gaynor SM; Liu Y; Chen H; Selvaraj MS; Sun R; Dey R; Arnett DK -
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
J Med Genet Volume: 59 Page(s): 1165 - 1170
12/01/2022 Authors: Hessl D; Rosselot H; Miller R; Espinal G; Famula J; Sherman SL; Todd PK; Cabal Herrera AM; Lipworth K; Cohen J -
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Nat Methods Volume: 19 Page(s): 1599 - 1611
12/01/2022 Authors: Li Z; Li X; Zhou H; Gaynor SM; Selvaraj MS; Arapoglou T; Quick C; Liu Y; Chen H; Sun R -
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
Nat Commun Volume: 13 Page(s): 5995
10/11/2022 Authors: Selvaraj MS; Li X; Li Z; Pampana A; Zhang DY; Park J; Aslibekyan S; Bis JC; Brody JA; Cade BE -
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.
J Glob Health Volume: 12 Page(s): 05035
08/08/2022 Authors: Pinku H; Hls A; Feany PT; Baumer N; Dierssen M; Bargagna S; Costa AC; Chicoine BA; Rebillat A-S; Sgandurra G -
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
Mol Genet Genomic Med Volume: 10 Page(s): e2001
08/01/2022 Authors: Albizua I; Charen K; Shubeck L; Talboy A; Berry-Kravis E; Kaufmann WE; Stallworth JL; Drazba KT; Erickson CA; Sweeney JA -
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A Volume: 119 Page(s): e2118124119
05/31/2022 Authors: Kong HE; Lim J; Linsalata A; Kang Y; Malik I; Allen EG; Cao Y; Shubeck L; Johnston R; Huang Y -
The Genomics of Acute Lymphoblastic Leukemia in Children with Down Syndrome
Volume: 114 Page(s): 374 - 374
05/01/2022 Authors: Lupo PJ; Li Z; Cheng Z; Brown AL; De Smith A; Shetty P; Scheurer M; Heerema N; Carroll A; Borowitz M -
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.
Vaccines (Basel) Volume: 10
03/29/2022 Authors: Hls A; Feany PT; Zisman SI; Costa ACS; Dierssen M; Balogh R; Bargagna S; Baumer NT; Brando AC; Carfi A -
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.
Nat Genet Volume: 54 Page(s): 263 - 273
03/01/2022 Authors: Wainschtein P; Jain D; Zheng Z; TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Cupples LA; Shadyab AH; McKnight B; Shoemaker BM; Mitchell BD -
Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis.
Birth Defects Res Volume: 114 Page(s): 57 - 61
01/15/2022 Authors: Stallings EB; Isenburg JL; Heinke D; Sherman SL; Kirby RS; Lupo PJ; National Birth Defects Prevention Network -
Stephen T. Warren, Ph.D. (1953-2021): A remembrance.
Am J Hum Genet Volume: 109 Page(s): 3 - 11
01/06/2022 Authors: Nelson DL; Clark J; Garber K; Glover T; Hassold T; Jin P; Orr HT; Sherman SL; Zoghbi H; Warren KL -
Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
Nat Genet Volume: 53 Page(s): 1722
12/01/2021 Authors: Luo Y; Kanai M; Choi W; Li X; Sakaue S; Yamamoto K; Ogawa K; Gutierrez-Arcelus M; Gregersen PK; Stuart PE -
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.
J Clin Med Volume: 10
10/31/2021 Authors: Emes D; Hls A; Baumer N; Dierssen M; Puri S; Russell L; Sherman SL; Strydom A; Bargagna S; Brando AC -
A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.
Nat Genet Volume: 53 Page(s): 1504 - 1516
10/01/2021 Authors: Luo Y; Kanai M; Choi W; Li X; Sakaue S; Yamamoto K; Ogawa K; Gutierrez-Arcelus M; Gregersen PK; Stuart PE -
Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.
Brain Sci Volume: 11
09/26/2021 Authors: Dimachkie Nunnally A; Nguyen V; Anglo C; Sterling A; Edgin J; Sherman S; Berry-Kravis E; Del Hoyo Soriano L; Abbeduto L; Thurman AJ -
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Fertil Steril Volume: 116 Page(s): 843 - 854
09/01/2021 Authors: Trevino CE; Rounds JC; Charen K; Shubeck L; Hipp HS; Spencer JB; Johnston HR; Cutler DJ; Zwick ME; Epstein MP -
Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.
Genet Med Volume: 23 Page(s): 1648 - 1655
09/01/2021 Authors: Allen EG; Charen K; Hipp HS; Shubeck L; Amin A; He W; Nolin SL; Glicksman A; Tortora N; McKinnon B -
Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome.
J Clin Med Volume: 10
08/23/2021 Authors: Real de Asua D; Mayer MA; Ortega MDC; Borrel JM; Bermejo TDJ; Gonzlez-Lamuo D; Manso C; Moldenhauer F; Carmona-Iragui M; Hls A -
Men with an FMR1 premutation and their health education needs.
J Genet Couns Volume: 30 Page(s): 1156 - 1167
08/01/2021 Authors: Walsh MB; Charen K; Shubeck L; McConkie-Rosell A; Ali N; Bellcross C; Sherman SL -
Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Sci Rep Volume: 11 Page(s): 15164
07/20/2021 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ -
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.
Mol Syndromol Volume: 12 Page(s): 202 - 218
07/01/2021 Authors: Dierssen M; Herault Y; Helguera P; Martnez de Lagran M; Vazquez A; Christian B; Carmona-Iragui M; Wiseman F; Mobley W; Fisher EMC -
Relationship between Apgar scores and long-term cognitive outcomes in individuals with Down syndrome.
Sci Rep Volume: 11 Page(s): 12707
06/16/2021 Authors: Del Hoyo Soriano L; Rosser TC; Hamilton DR; Harvey DJ; Abbeduto L; Sherman SL -
Genome sequencing unveils a regulatory landscape of platelet reactivity.
Nat Commun Volume: 12 Page(s): 3626
06/15/2021 Authors: Keramati AR; Chen M-H; Rodriguez BAT; Yanek LR; Bhan A; Gaynor BJ; Ryan K; Brody JA; Zhong X; Wei Q -
Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.
Nat Commun Volume: 12 Page(s): 3506
06/09/2021 Authors: Sofer T; Zheng X; Laurie CA; Gogarten SM; Brody JA; Conomos MP; Bis JC; Thornton TA; Szpiro A; O'Connell JR -
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.
Genome Med Volume: 13 Page(s): 66
04/21/2021 Authors: Kasela S; Ortega VE; Martorella M; Garudadri S; Nguyen J; Ampleford E; Pasanen A; Nerella S; Buschur KL; Barjaktarevic IZ -
Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis.
J Neurodev Disord Volume: 13 Page(s): 16
04/19/2021 Authors: Channell MM; Mattie LJ; Hamilton DR; Capone GT; Mahone EM; Sherman SL; Rosser TC; Reeves RH; Kalb LG; Down Syndrome Cognition Project -
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.
J Neurodev Disord Volume: 13 Page(s): 13
04/08/2021 Authors: Thurman AJ; Edgin JO; Sherman SL; Sterling A; McDuffie A; Berry-Kravis E; Hamilton D; Abbeduto L -
Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21.
Prenat Diagn Volume: 41 Page(s): 591 - 609
04/01/2021 Authors: Chernus JM; Sherman SL; Feingold E -
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Nature Volume: 591 Page(s): E27
03/01/2021 Authors: Bick AG; Weinstock JS; Nandakumar SK; Fulco CP; Bao EL; Zekavat SM; Szeto MD; Liao X; Leventhal MJ; Nasser J -
Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey.
EClinicalMedicine Volume: 33 Page(s): 100769
03/01/2021 Authors: Hls A; Costa ACS; Dierssen M; Baksh RA; Bargagna S; Baumer NT; Brando AC; Carfi A; Carmona-Iragui M; Chicoine BA -
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
Nature Volume: 590 Page(s): 290 - 299
02/01/2021 Authors: Taliun D; Harris DN; Kessler MD; Carlson J; Szpiech ZA; Torres R; Taliun SAG; Corvelo A; Gogarten SM; Kang HM -
Opportunities, barriers, and recommendations in down syndrome research.
Transl Sci Rare Dis Volume: 5 Page(s): 99 - 129
01/01/2021 Authors: Hendrix JA; Amon A; Abbeduto L; Agiovlasitis S; Alsaied T; Anderson HA; Bain LJ; Baumer N; Bhattacharyya A; Bogunovic D -
Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation.
Front Psychiatry Volume: 12 Page(s): 715922
01/01/2021 Authors: Allen EG; Charen K; Hipp HS; Shubeck L; Amin A; He W; Hunter JE; Shelly KE; Sherman SL -
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
Hum Genet Volume: 139 Page(s): 1531 - 1539
12/01/2020 Authors: Albizua I; Chopra P; Allen EG; He W; Amin AS; Sherman SL -
Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.
J Genet Couns Volume: 29 Page(s): 983 - 991
12/01/2020 Authors: Smolich L; Charen K; Sherman SL -
Gestational age is related to symptoms of attention-deficit/hyperactivity disorder in late-preterm to full-term children and adolescents with down syndrome.
Sci Rep Volume: 10 Page(s): 20345
11/23/2020 Authors: Del Hoyo Soriano L; Rosser T; Hamilton D; Wood T; Abbeduto L; Sherman S -
An international survey on the impact of COVID-19 in individuals with Down syndrome.
medRxiv
11/05/2020 Authors: Hls A; Costa ACS; Dierssen M; Baksh RA; Bargagna S; Baumer NT; Brando AC; Carfi A; Carmona-Iragui M; Chicoine BA -
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Sci Rep Volume: 10 Page(s): 18051
10/22/2020 Authors: Trevino CE; Holleman AM; Corbitt H; Maslen CL; Rosser TC; Cutler DJ; Johnston HR; Rambo-Martin BL; Oberoi J; Dooley KJ -
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Nature Volume: 586 Page(s): 763 - 768
10/01/2020 Authors: Bick AG; Weinstock JS; Nandakumar SK; Fulco CP; Bao EL; Zekavat SM; Szeto MD; Liao X; Leventhal MJ; Nasser J -
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Nat Genet Volume: 52 Page(s): 969 - 983
09/01/2020 Authors: Li X; Li Z; Zhou H; Gaynor SM; Liu Y; Chen H; Sun R; Dey R; Arnett DK; Aslibekyan S -
An empirical bayesian approach for testing gene expression fold change and its application in detecting global dosage effects.
NAR Genom Bioinform Volume: 2 Page(s): lqaa072
09/01/2020 Authors: Guo Z; Cui Y; Shi X; Birchler JA; Albizua I; Sherman SL; Qin ZS; Ji T -
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.
J Neurodev Disord Volume: 12 Page(s): 11
04/02/2020 Authors: Abbeduto L; Berry-Kravis E; Sterling A; Sherman S; Edgin JO; McDuffie A; Hoffmann A; Hamilton D; Nelson M; Aschkenasy J -
Clustering of comorbid conditions among women who carry an FMR1 premutation.
Genet Med Volume: 22 Page(s): 758 - 766
04/01/2020 Authors: Allen EG; Charen K; Hipp HS; Shubeck L; Amin A; He W; Hunter JE; Sherman SL -
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.
J Neurodev Disord Volume: 12 Page(s): 10
03/24/2020 Authors: Abbeduto L; Berry-Kravis E; Sterling A; Sherman S; Edgin JO; McDuffie A; Hoffmann A; Hamilton D; Nelson M; Aschkenasy J -
Down syndrome.
Nat Rev Dis Primers Volume: 6 Page(s): 9
02/06/2020 Authors: Antonarakis SE; Skotko BG; Rafii MS; Strydom A; Pape SE; Bianchi DW; Sherman SL; Reeves RH -
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.
Hum Mol Genet Volume: 29 Page(s): 238 - 247
01/15/2020 Authors: Albizua I; Chopra P; Sherman SL; Gambello MJ; Warren ST -
The association between maternal occupation and down syndrome: A report from the national Down syndrome project.
Int J Hyg Environ Health Volume: 223 Page(s): 207 - 213
01/01/2020 Authors: Keen C; Hunter JE; Allen EG; Rocheleau C; Waters M; Sherman SL -
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
PLoS Genet Volume: 15 Page(s): e1008414
12/01/2019 Authors: Chernus JM; Allen EG; Zeng Z; Hoffman ER; Hassold TJ; Feingold E; Sherman SL -
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.
Blood Volume: 134 Page(s): 1227 - 1237
10/10/2019 Authors: Brown AL; de Smith AJ; Gant VU; Yang W; Scheurer ME; Walsh KM; Chernus JM; Kallsen NA; Peyton SA; Davies GE -
Preventive care services and health behaviors in children with fragile X syndrome.
Disabil Health J Volume: 12 Page(s): 564 - 573
10/01/2019 Authors: Gilbertson KE; Jackson HL; Dziuban EJ; Sherman SL; Berry-Kravis EM; Erickson CA; Valdez R -
Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome.
J Autism Dev Disord Volume: 49 Page(s): 3543 - 3556
09/01/2019 Authors: Channell MM; Hahn LJ; Rosser TC; Hamilton D; Frank-Crawford MA; Capone GT; Sherman SL; Down Syndrome Cognition Project -
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Am J Med Genet A Volume: 179 Page(s): 1148 - 1156
07/01/2019 Authors: Nolin SL; Glicksman A; Tortora N; Allen E; Macpherson J; Mila M; Vianna-Morgante AM; Sherman SL; Dobkin C; Latham GJ -
Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress.
Res Dev Disabil Volume: 89 Page(s): 76 - 82
06/01/2019 Authors: Hunter JE; Jenkins CL; Grim V; Leung S; Charen KH; Hamilton DR; Allen EG; Sherman SL -
Associations Between Medical History, Cognition, and Behavior in Youth With Down Syndrome: A Report From the Down Syndrome Cognition Project.
Am J Intellect Dev Disabil Volume: 123 Page(s): 514 - 528
11/01/2018 Authors: Rosser TC; Edgin JO; Capone GT; Hamilton DR; Allen EG; Dooley KJ; Anand P; Strang JF; Armour AC; Frank-Crawford MA -
Genome-wide association study of acute lymphoblastic leukemia in children with Down syndrome
Volume: 78
07/01/2018 Authors: Brown AL; de Smith AJ; Scheurer ME; Kallsen NA; Peyton SA; Davies GE; Ehli EA; Zwick ME; Winick N; Maloney K -
Newton E. Morton (1929-2018).
Am J Hum Genet Volume: 102 Page(s): 1011 - 1017
06/07/2018 Authors: Sherman SL; Rao DC; Keats BJ; Yee S; Spence MA; Hassold TJ; Chakravarti A; Elston RC; Crolla JA; Ennis S -
METABOLIC PERTURBATIONS IN SECOND-TRIMESTER ARE AMNIOTIC FLUID ASSOCIATED WITH LOW-LEVEL MATERNAL EXPOSURE TO NICOTINE
Volume: 176 Page(s): 1498 - 1499
06/01/2018 Authors: Schwartz CE; Fischer T; Lili L; Li S; ViLinh T; Stewart K; Jones D; Sherman S; Fridovich-Keil J -
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
G3 (Bethesda) Volume: 8 Page(s): 105 - 111
01/04/2018 Authors: Rambo-Martin BL; Mulle JG; Cutler DJ; Bean LJH; Rosser TC; Dooley KJ; Cua C; Capone G; Maslen CL; Reeves RH -
Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.
Front Genet Volume: 9 Page(s): 529
01/01/2018 Authors: Fink DA; Nelson LM; Pyeritz R; Johnson J; Sherman SL; Cohen Y; Elizur SE -
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.
Front Genet Volume: 9 Page(s): 292
01/01/2018 Authors: Allen EG; Glicksman A; Tortora N; Charen K; He W; Amin A; Hipp H; Shubeck L; Nolin SL; Sherman SL -
Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.
J Genet Couns Volume: 26 Page(s): 1333 - 1340
12/01/2017 Authors: Reines V; Charen K; Rosser T; Eisen A; Sherman SL; Visootsak J -
Attendance at Fragile X Specialty Clinics: Facilitators and Barriers.
Am J Intellect Dev Disabil Volume: 122 Page(s): 457 - 475
11/01/2017 Authors: Kidd SA; Raspa M; Clark R; Usrey-Roos H; Wheeler AC; Liu JA; Wylie A; Sherman SL -
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Am J Med Genet A Volume: 173 Page(s): 2985 - 2994
11/01/2017 Authors: Albizua I; Rambo-Martin BL; Allen EG; He W; Amin AS; Sherman SL -
Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.
Environ Int Volume: 107 Page(s): 227 - 234
10/01/2017 Authors: Fischer ST; Lili LN; Li S; Tran VT; Stewart KB; Schwartz CE; Jones DP; Sherman SL; Fridovich-Keil JL -
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
Pediatrics Volume: 139 Page(s): S183 - S193
06/01/2017 Authors: Sherman SL; Kidd SA; Riley C; Berry-Kravis E; Andrews HF; Miller RM; Lincoln S; Swanson M; Kaufmann WE; Brown WT -
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
Pediatrics Volume: 139 Page(s): S194 - S206
06/01/2017 Authors: Kaufmann WE; Kidd SA; Andrews HF; Budimirovic DB; Esler A; Haas-Givler B; Stackhouse T; Riley C; Peacock G; Sherman SL -
The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.
Am J Intellect Dev Disabil Volume: 122 Page(s): 215 - 234
05/01/2017 Authors: Edgin JO; Anand P; Rosser T; Pierpont EI; Figueroa C; Hamilton D; Huddleston L; Mason G; Span G; Toole L -
Genome-Wide Association Study of Meiotic Recombination Phenotypes.
G3 (Bethesda) Volume: 6 Page(s): 3995 - 4007
12/07/2016 Authors: Begum F; Chowdhury R; Cheung VG; Sherman SL; Feingold E -
Clinicians' experiences with the fragile X clinical and research consortium.
Am J Med Genet A Volume: 170 Page(s): 3138 - 3143
12/01/2016 Authors: Liu JA; Hagerman RJ; Miller RM; Craft LT; Finucane B; Tartaglia N; Berry-Kravis EM; Sherman SL; Kidd SA; Cohen J -
Importance of a specialty clinic for individuals with fragile X syndrome.
Am J Med Genet A Volume: 170 Page(s): 3144 - 3149
12/01/2016 Authors: Visootsak J; Kidd SA; Anderson T; Bassell JL; Sherman SL; Berry-Kravis EM -
Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin.
J Down Syndr Chromosom Abnorm Volume: 2
12/01/2016 Authors: Oliver TR; Middlebrooks C; Harden A; Scott N; Johnson B; Jones J; Walker C; Wilkerson C; Saffold S-H; Akinseye A -
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
Menopause Volume: 23 Page(s): 993 - 999
09/01/2016 Authors: Hipp HS; Charen KH; Spencer JB; Allen EG; Sherman SL -
Predictors of Cognitive Decline in FXTAS
Volume: 86
04/05/2016 Authors: Lazarus J; Shubeck L; Allen E; Hamilton D; Choi J; Sherman S; Juncos J -
Predictors of Cognitive Decline in FXTAS
Volume: 86
04/05/2016 Authors: Lazarus J; Shubeck L; Allen E; Hamilton D; Choi J; Sherman S; Juncos J -
Improving Health Education for Women Who Carry an FMR1 Premutation.
J Genet Couns Volume: 25 Page(s): 228 - 238
04/01/2016 Authors: Espinel W; Charen K; Huddleston L; Visootsak J; Sherman S -
Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.
Cardiol Young Volume: 26 Page(s): 250 - 256
02/01/2016 Authors: Visootsak J; Huddleston L; Buterbaugh A; Perkins A; Sherman S; Hunter J -
Regionally Smoothed Meta-Analysis Methods for GWAS Datasets.
Genet Epidemiol Volume: 40 Page(s): 154 - 160
02/01/2016 Authors: Begum F; Sharker MH; Sherman SL; Tseng GC; Feingold E -
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.
Hum Reprod Volume: 31 Page(s): 158 - 168
01/01/2016 Authors: Buijsen RAM; Visser JA; Kramer P; Severijnen EAWFM; Gearing M; Charlet-Berguerand N; Sherman SL; Berman RF; Willemsen R; Hukema RK -
Association between telomere length and chromosome 21 nondisjunction in the oocyte.
Hum Genet Volume: 134 Page(s): 1263 - 1270
11/01/2015 Authors: Albizua I; Rambo-Martin BL; Allen EG; He W; Amin AS; Sherman SL -
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
G3 (Bethesda) Volume: 5 Page(s): 1961 - 1971
07/20/2015 Authors: Ramachandran D; Zeng Z; Locke AE; Mulle JG; Bean LJH; Rosser TC; Dooley KJ; Cua CL; Capone GT; Reeves RH -
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
Genet Med Volume: 17 Page(s): 554 - 560
07/01/2015 Authors: Ramachandran D; Mulle JG; Locke AE; Bean LJH; Rosser TC; Bose P; Dooley KJ; Cua CL; Capone GT; Reeves RH -
Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.
Am J Med Genet B Neuropsychiatr Genet Volume: 165B Page(s): 705 - 711
12/01/2014 Authors: Mailick MR; Hong J; Greenberg J; Smith L; Sherman S -
Erratum to "Exploratory analysis of seven Alzheimer's disease genes: disease progression" [Neurobiol. Aging 34 (2013) 1310.e1-1310.e7].
Neurobiol Aging Volume: 35 Page(s): 2661
11/01/2014 Authors: Ruiz A; Hernndez I; Ronsende-Roca M; Gonzlez-Prez A; Rodriguez-Noriega E; Ramrez-Lorca R; Maulen A; Moreno-Rey C; Boswell L; Tune L -
Cognitive aspects of Fragile X syndrome.
Wiley Interdiscip Rev Cogn Sci Volume: 5 Page(s): 501 - 508
07/01/2014 Authors: Huddleston LB; Visootsak J; Sherman SL -
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
Hum Mol Genet Volume: 23 Page(s): 408 - 417
01/15/2014 Authors: Middlebrooks CD; Mukhopadhyay N; Tinker SW; Allen EG; Bean LJH; Begum F; Chowdhury R; Cheung V; Doheny K; Adams M -
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.
Front Genet Volume: 5 Page(s): 260
01/01/2014 Authors: Allen EG; Grus WE; Narayan S; Espinel W; Sherman SL -
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).
J Neurodev Disord Volume: 6 Page(s): 26
01/01/2014 Authors: Sherman SL; Curnow EC; Easley CA; Jin P; Hukema RK; Tejada MI; Willemsen R; Usdin K -
The cognitive neuropsychological phenotype of carriers of the FMR1 premutation.
J Neurodev Disord Volume: 6 Page(s): 28
01/01/2014 Authors: Grigsby J; Cornish K; Hocking D; Kraan C; Olichney JM; Rivera SM; Schneider A; Sherman S; Wang JY; Yang J-C -
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction.
PLoS One Volume: 9 Page(s): e99560
01/01/2014 Authors: Oliver TR; Middlebrooks CD; Tinker SW; Allen EG; Bean LJH; Begum F; Feingold E; Chowdhury R; Cheung V; Sherman SL -
Associated features in females with an FMR1 premutation.
J Neurodev Disord Volume: 6 Page(s): 30
01/01/2014 Authors: Wheeler AC; Bailey DB; Berry-Kravis E; Greenberg J; Losh M; Mailick M; Mil M; Olichney JM; Rodriguez-Revenga L; Sherman S -
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 Volume: 15 Page(s): 698 - 705
09/01/2013 Authors: Hunter JE; Allen EG; Shin M; Bean LJH; Correa A; Druschel C; Hobbs CA; O'Leary LA; Romitti PA; Royle MH -
Neurodevelopmental Outcomes of Children with Down Syndrome and Congenital Heart Defects
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS Volume: 34 Page(s): S11 - S11
07/01/2013 Authors: Visootsak J; Hunter J; Sherman S -
Exploratory analysis of seven Alzheimer's disease genes: disease progression.
Neurobiol Aging Volume: 34 Page(s): 1310.e1 - 1310.e7
04/01/2013 Authors: Ruiz A; Hernndez I; Ronsende-Roca M; Gonzlez-Prez A; Rodriguez-Noriega E; Ramrez-Lorca R; Maulen A; Moreno-Rey C; Boswell L; Tune L -
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Am J Med Genet A Volume: 161A Page(s): 771 - 778
04/01/2013 Authors: Nolin SL; Sah S; Glicksman A; Sherman SL; Allen E; Berry-Kravis E; Tassone F; Yrigollen C; Cronister A; Jodah M -
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project.
Am J Med Genet A Volume: 161A Page(s): 438 - 444
03/01/2013 Authors: Hollis ND; Allen EG; Oliver TR; Tinker SW; Druschel C; Hobbs CA; O'Leary LA; Romitti PA; Royle MH; Torfs CP -
Autonomic Dysfunction in the Fragile X Associated Tremor/Ataxia Syndrome
Volume: 80
02/12/2013 Authors: Lazarus J; Allen E; Shubeck L; Sherman S; Juncos J -
Variation in Proline Rich Domain Containing 9 is Associated with the Absence of Recombination 21q and Nondisjunction
MOLECULAR BIOLOGY OF THE CELL Volume: 24
01/01/2013 Authors: Oliver TR; Harden A; Johnson B; Middlebrooks C; Sherman S -
Diagnosis of fragile X syndrome: a qualitative study of African American families.
J Genet Couns Volume: 21 Page(s): 845 - 853
12/01/2012 Authors: Visootsak J; Charen K; Rohr J; Allen E; Sherman S -
Newborn, carrier, and early childhood screening recommendations for fragile X.
Pediatrics Volume: 130 Page(s): 1126 - 1135
12/01/2012 Authors: Abrams L; Cronister A; Brown WT; Tassone F; Sherman SL; Finucane B; McConkie-Rosell A; Hagerman R; Kaufmann WE; Picker J -
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.
Hum Mol Genet Volume: 21 Page(s): 5039 - 5047
12/01/2012 Authors: Lu C; Lin L; Tan H; Wu H; Sherman SL; Gao F; Jin P; Chen D -
Testing Copy Number Variant/Trait Associations Detected Using Manhattan Plots
Volume: 36 Page(s): 767 - 767
11/01/2012 Authors: Satten GA; Ramachandran D; Mulle JG; Allen AS; Bean LJH; Maslen C; Sherman SL; Reeves RH; Zwick ME -
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Am J Hum Genet Volume: 91 Page(s): 646 - 659
10/05/2012 Authors: Ackerman C; Locke AE; Feingold E; Reshey B; Espana K; Thusberg J; Mooney S; Bean LJH; Dooley KJ; Cua CL -
Olfactory dysfunction in fragile X tremor ataxia syndrome.
Mov Disord Volume: 27 Page(s): 1556 - 1559
10/01/2012 Authors: Juncos JL; Lazarus JT; Rohr J; Allen EG; Shubeck L; Hamilton D; Novak G; Sherman SL -
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 Volume: 159B Page(s): 549 - 559
07/01/2012 Authors: Hunter JE; Leslie M; Novak G; Hamilton D; Shubeck L; Charen K; Abramowitz A; Epstein MP; Lori A; Binder E -
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21.
Hum Genet Volume: 131 Page(s): 1039 - 1046
07/01/2012 Authors: Oliver TR; Tinker SW; Allen EG; Hollis N; Locke AE; Bean LJH; Chowdhury R; Begum F; Marazita M; Cheung V -
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.
Circ Cardiovasc Genet Volume: 5 Page(s): 301 - 308
06/01/2012 Authors: Li H; Cherry S; Klinedinst D; DeLeon V; Redig J; Reshey B; Chin MT; Sherman SL; Maslen CL; Reeves RH -
The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.
Behav Genet Volume: 42 Page(s): 415 - 422
05/01/2012 Authors: Hunter JE; Epstein MP; Tinker SW; Abramowitz A; Sherman SL -
NEURODEVELOPMENTAL IMPACT OF CONGENITAL HEART DEFECTS IN DOWN SYNDROME
Volume: 60 Page(s): 729 - 729
04/01/2012 Authors: Visootsak J; Perkins A; Huddleston L; Sherman S -
Autonomic dysfunction in FMR1 premutation carriers as measured by the SCOPA-AU
Volume: 27 Page(s): E9 - E10
04/01/2012 Authors: Lazarus JT; Graves-Allen E; Shubeck L; Sherman SL; Juncos JL -
Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts.
Neuropsychology Volume: 26 Page(s): 156 - 164
03/01/2012 Authors: Hunter JE; Sherman S; Grigsby J; Kogan C; Cornish K -
Characterizing Genetic Variation in PRDM9 and its Association with Altered Patterns of Recombination Linked to Chromosome 21 Nondisjunction.
MOLECULAR BIOLOGY OF THE CELL Volume: 23
01/01/2012 Authors: Oliver TR; Harden A; Walker C; Sherman S -
Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls.
Histopathology Volume: 59 Page(s): 1018 - 1023
11/01/2011 Authors: Chang MC; DeCaro JJ; Zheng M; Gearing M; Shubeck L; Sherman SL; Welt CK -
Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.
Am J Med Genet A Volume: 155A Page(s): 2688 - 2691
11/01/2011 Authors: Visootsak J; Mahle WT; Kirshbom PM; Huddleston L; Caron-Besch M; Ransom A; Sherman SL -
Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
Prenat Diagn Volume: 31 Page(s): 925 - 931
10/01/2011 Authors: Nolin SL; Glicksman A; Ding X; Ersalesi N; Brown WT; Sherman SL; Dobkin C -
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 Volume: 91 Page(s): 885 - 893
10/01/2011 Authors: Bean LJH; Allen EG; Tinker SW; Hollis ND; Locke AE; Druschel C; Hobbs CA; O'Leary L; Romitti PA; Royle MH -
The wider implications of trisomy 21 mosaicism
Volume: 48 Page(s): S81 - S81
09/01/2011 Authors: White H; Hall V; Allen EG; Sherman S; Jacobs P -
Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.
Hum Reprod Volume: 26 Page(s): 2185 - 2191
08/01/2011 Authors: Spath MA; Feuth TB; Allen EG; Smits APT; Yntema HG; van Kessel AG; Braat DDM; Sherman SL; Thomas CMG -
Predictors and risk model development for menopausal age in fragile X premutation carriers.
Genet Med Volume: 13 Page(s): 643 - 650
07/01/2011 Authors: Spath MA; Feuth TB; Smits APT; Yntema HG; Braat DDM; Thomas CMG; van Kessel AG; Sherman SL; Allen EG -
FMR1 and the continuum of primary ovarian insufficiency.
Semin Reprod Med Volume: 29 Page(s): 299 - 307
10/01/2022 Authors: Sullivan SD; Welt C; Sherman S -
Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.
Neuropsychology Volume: 25 Page(s): 404 - 411
05/01/2011 Authors: Allen EG; Hunter JE; Rusin M; Juncos J; Novak G; Hamilton D; Shubeck L; Charen K; Sherman SL -
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).
Neurogenetics Volume: 12 Page(s): 123 - 135
05/01/2011 Authors: Juncos JL; Lazarus JT; Graves-Allen E; Shubeck L; Rusin M; Novak G; Hamilton D; Rohr J; Sherman SL -
Down syndrome: national conference on patient registries, research databases, and biobanks.
Mol Genet Metab Volume: 104 Page(s): 13 - 22
01/01/2011 Authors: Oster-Granite ML; Parisi MA; Abbeduto L; Berlin DS; Bodine C; Bynum D; Capone G; Collier E; Hall D; Kaeser L -
Development and validation of the Arizona Cognitive Test Battery for Down syndrome.
J Neurodev Disord Volume: 2 Page(s): 149 - 164
09/01/2010 Authors: Edgin JO; Mason GM; Allman MJ; Capone GT; Deleon I; Maslen C; Reeves RH; Sherman SL; Nadel L -
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.
Genet Epidemiol Volume: 34 Page(s): 613 - 623
09/01/2010 Authors: Locke AE; Dooley KJ; Tinker SW; Cheong SY; Feingold E; Allen EG; Freeman SB; Torfs CP; Cua CL; Epstein MP -
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.
Ann Hum Genet Volume: 74 Page(s): 316 - 325
07/01/2010 Authors: Peprah EK; Allen EG; Williams SM; Woodard LM; Sherman SL -
Co-occurring diagnoses among FMR1 premutation allele carriers.
Clin Genet Volume: 77 Page(s): 374 - 381
04/01/2010 Authors: Hunter JE; Rohr JK; Sherman SL -
Genetics. Genetic control of hotspots.
Science Volume: 327 Page(s): 791 - 792
02/12/2010 Authors: Cheung VG; Sherman SL; Feingold E -
Examination of FMR1 transcript and protein levels among 74 premutation carriers.
J Hum Genet Volume: 55 Page(s): 66 - 68
01/01/2010 Authors: Peprah E; He W; Allen E; Oliver T; Boyne A; Sherman SL -
Associations of progesterone receptor polymorphisms with age at menarche and menstrual cycle length.
Horm Res Paediatr Volume: 74 Page(s): 421 - 427
01/01/2010 Authors: Taylor KC; Small CM; Epstein MP; Sherman SL; Tang W; Wilson MM; Bouzyk M; Marcus M -
A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes.
Stat Biosci Volume: 1 Page(s): 181 - 198
11/01/2009 Authors: Epstein MP; Hunter JE; Allen EG; Sherman SL; Lin X; Boehnke M -
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Am J Hum Genet Volume: 85 Page(s): 503 - 514
10/01/2009 Authors: Coffee B; Keith K; Albizua I; Malone T; Mowrey J; Sherman SL; Warren ST -
Genetic analysis of variation in human meiotic recombination.
PLoS Genet Volume: 5 Page(s): e1000648
09/01/2009 Authors: Chowdhury R; Bois PRJ; Feingold E; Sherman SL; Cheung VG -
Investigation of factors associated with paternal nondisjunction of chromosome 21.
Am J Med Genet A Volume: 149A Page(s): 1685 - 1690
08/01/2009 Authors: Oliver TR; Bhise A; Feingold E; Tinker S; Masse N; Sherman SL -
GENETIC VARIATION IN THE PROGESTERONE RECEPTOR AND AGE AT MENARCHE
Volume: 169 Page(s): S6 - S6
06/01/2009 Authors: Taylor KC; Small CM; Epstein MP; Sherman SL; Tang W; Wilson MM; Bouzyk M; Marcus M -
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
Hum Mutat Volume: 30 Page(s): 771 - 775
05/01/2009 Authors: Arnold S; Pelet A; Amiel J; Borrego S; Hofstra R; Tam P; Ceccherini I; Lyonnet S; Sherman S; Chakravarti A -
Germline mutation of microRNA-125a is associated with breast cancer.
J Med Genet Volume: 46 Page(s): 358 - 360
05/01/2009 Authors: Li W; Duan R; Kooy F; Sherman SL; Zhou W; Jin P -
A Pilot Genome Wide Association Study in Spontaneous Preterm Birth
Volume: 16 Page(s): 119A - 119A
03/01/2009 Authors: Menon R; Albertsen H; Thorsen P; Carnevale C; Velez DR; Merialdi M; Sherman S; Pearce BD; Fortunato SJ -
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature.
Genet Med Volume: 11 Page(s): 79 - 89
02/01/2009 Authors: Hunter JE; Abramowitz A; Rusin M; Sherman SL -
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 Volume: 125 Page(s): 41 - 52
02/01/2009 Authors: Allen EG; Freeman SB; Druschel C; Hobbs CA; O'Leary LA; Romitti PA; Royle MH; Torfs CP; Sherman SL -
Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.
Clin Genet Volume: 75 Page(s): 180 - 184
02/01/2009 Authors: Freeman SB; Torfs CP; Romitti PA; Royle MH; Druschel C; Hobbs CA; Sherman SL -
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 Volume: 83 Page(s): 692 - 702
12/01/2008 Authors: Hunter JE; Allen EG; Abramowitz A; Rusin M; Leslie M; Novak G; Hamilton D; Shubeck L; Charen K; Sherman SL -
A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.
Nucleic Acids Res Volume: 36 Page(s): e145
12/01/2008 Authors: Duffy KJ; Littrell J; Locke A; Sherman SL; Olivier M -
Smarter clustering methods for SNP genotype calling.
Bioinformatics Volume: 24 Page(s): 2665 - 2671
12/01/2008 Authors: Lin Y; Tseng GC; Cheong SY; Bean LJH; Sherman SL; Feingold E -
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.
Genet Med Volume: 10 Page(s): 845 - 847
11/01/2008 Authors: Kronquist KE; Sherman SL; Spector EB -
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.
Genet Epidemiol Volume: 32 Page(s): 553 - 559
09/01/2008 Authors: Hunter JE; Epstein MP; Tinker SW; Charen KH; Sherman SL -
Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers.
Behav Genet Volume: 38 Page(s): 493 - 502
09/01/2008 Authors: Hunter JE; Allen EG; Abramowitz A; Rusin M; Leslie M; Novak G; Hamilton D; Shubeck L; Charen K; Sherman SL -
Genetic variability in inhibins and menstrual cycle characteristics
Volume: 167 Page(s): S23 - S23
06/01/2008 Authors: Taylor K; Small C; Dominguez C; Sherman S; Epstein M; Tang W; Wilson M; Bouzyk M; Marcus M -
Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study.
Hum Reprod Volume: 23 Page(s): 1220 - 1225
05/01/2008 Authors: Rohr J; Allen EG; Charen K; Giles J; He W; Dominguez C; Sherman SL -
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery.
J Med Genet Volume: 45 Page(s): 290 - 297
05/01/2008 Authors: Allen EG; Juncos J; Letz R; Rusin M; Hamilton D; Novak G; Shubeck L; Tinker SW; Sherman SL -
New insights into human nondisjunction of chromosome 21 in oocytes.
PLoS Genet Volume: 4 Page(s): e1000033
03/14/2008 Authors: Oliver TR; Feingold E; Yu K; Cheung V; Tinker S; Yadav-Shah M; Masse N; Sherman SL -
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project.
Genet Med Volume: 10 Page(s): 173 - 180
03/01/2008 Authors: Freeman SB; Bean LH; Allen EG; Tinker SW; Locke AE; Druschel C; Hobbs CA; Romitti PA; Royle MH; Torfs CP -
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 Volume: 1135 Page(s): 99 - 111
01/01/2008 Authors: De Caro JJ; Dominguez C; Sherman SL -
Neurodevelopmental impact of congenital heart defects in Down syndrome
Volume: 56 Page(s): 426 - 426
01/01/2008 Authors: Visootsak JJ; Huddleston L; Caron M; Rarsom A; Sherman S -
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J Mol Diagn Volume: 10 Page(s): 2 - 12
01/01/2008 Authors: Amos Wilson J; Pratt VM; Phansalkar A; Muralidharan K; Highsmith WE; Beck JC; Bridgeman S; Courtney EM; Epp L; Ferreira-Gonzalez A -
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
J Genet Couns Volume: 16 Page(s): 593 - 606
10/01/2007 Authors: McConkie-Rosell A; Abrams L; Finucane B; Cronister A; Gane LW; Coffey SM; Sherman S; Nelson LM; Berry-Kravis E; Hessl D -
Examination of reproductive aging milestones among women who carry the FMR1 premutation.
Hum Reprod Volume: 22 Page(s): 2142 - 2152
08/01/2007 Authors: Allen EG; Sullivan AK; Marcus M; Small C; Dominguez C; Epstein MP; Charen K; He W; Taylor KC; Sherman SL -
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Am J Hum Genet Volume: 81 Page(s): 252 - 263
08/01/2007 Authors: Prandini P; Deutsch S; Lyle R; Gagnebin M; Delucinge Vivier C; Delorenzi M; Gehrig C; Descombes P; Sherman S; Dagna Bricarelli F -
Neuropsychiatric and behavioral aspects of trisomy 21.
Curr Psychiatry Rep Volume: 9 Page(s): 135 - 140
04/01/2007 Authors: Visootsak J; Sherman S -
The FMR1 premutation and reproduction.
Fertil Steril Volume: 87 Page(s): 456 - 465
03/01/2007 Authors: Wittenberger MD; Hagerman RJ; Sherman SL; McConkie-Rosell A; Welt CK; Rebar RW; Corrigan EC; Simpson JL; Nelson LM -
Attitudes toward fragile X mutation carrier testing from women identified in a general population survey.
J Genet Couns Volume: 16 Page(s): 97 - 104
02/01/2007 Authors: Anido A; Carlson LM; Sherman SL -
Epidemiology of Down syndrome.
Ment Retard Dev Disabil Res Rev Volume: 13 Page(s): 221 - 227
01/01/2007 Authors: Sherman SL; Allen EG; Bean LH; Freeman SB -
The National Down Syndrome Project: design and implementation.
Public Health Rep Volume: 122 Page(s): 62 - 72
01/01/2007 Authors: Freeman SB; Allen EG; Oxford-Wright CL; Tinker SW; Druschel C; Hobbs CA; O'Leary LA; Romitti PA; Royle MH; Torfs CP -
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.
Am J Med Genet A Volume: 140 Page(s): 2501 - 2505
11/15/2006 Authors: Maslen CL; Babcock D; Robinson SW; Bean LJH; Dooley KJ; Willour VL; Sherman SL -
Consensus validation of 16 FMR1 controls: a consortium study by the fragile xperts
Volume: 8 Page(s): 623 - 623
11/01/2006 Authors: Wilson JA; Pratt VM; Phansalkar A; Beck JC; Bridgeman SJ; Courtney EM; Epp L; Ferreira-Gonzalez A; Highsmith WE; Hjelm NL -
Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21.
Volume: 34 Page(s): 578 - 580
08/01/2006 Authors: Sherman SL; Lamb NE; Feingold E -
Fragile X syndrome: diagnostic and carrier testing.
Genet Med Volume: 7 Page(s): 584 - 587
10/01/2005 Authors: Sherman S; Pletcher BA; Driscoll DA -
Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.
J Genet Couns Volume: 14 Page(s): 295 - 306
08/01/2005 Authors: Anido A; Carlson LM; Taft L; Sherman SL -
CYP17 genotype predicts serum hormone levels among pre-menopausal women.
Hum Reprod Volume: 20 Page(s): 2162 - 2167
08/01/2005 Authors: Small CM; Marcus M; Sherman SL; Sullivan AK; Manatunga AK; Feigelson HS -
Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.
Behav Genet Volume: 35 Page(s): 435 - 445
07/01/2005 Authors: Allen EG; Sherman S; Abramowitz A; Leslie M; Novak G; Rusin M; Scott E; Letz R -
Association of FMR1 repeat size with ovarian dysfunction.
Hum Reprod Volume: 20 Page(s): 402 - 412
02/01/2005 Authors: Sullivan AK; Marcus M; Epstein MP; Allen EG; Anido AE; Paquin JJ; Yadav-Shah M; Sherman SL -
Risk factors for nondisjunction of trisomy 21.
Cytogenet Genome Res Volume: 111 Page(s): 273 - 280
01/01/2005 Authors: Sherman SL; Freeman SB; Allen EG; Lamb NE -
Effect of meiotic recombination on the production of aneuploid gametes in humans.
Cytogenet Genome Res Volume: 111 Page(s): 250 - 255
01/01/2005 Authors: Lamb NE; Sherman SL; Hassold TJ -
Association between maternal age and meiotic recombination for trisomy 21.
Am J Hum Genet Volume: 76 Page(s): 91 - 99
01/01/2005 Authors: Lamb NE; Yu K; Shaffer J; Feingold E; Sherman SL -
Recombination rate and reproductive success in humans.
Nat Genet Volume: 36 Page(s): 1203 - 1206
11/01/2004 Authors: Kong A; Barnard J; Gudbjartsson DF; Thorleifsson G; Jonsdottir G; Sigurdardottir S; Richardsson B; Jonsdottir J; Thorgeirsson T; Frigge ML -
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.
Genet Epidemiol Volume: 27 Page(s): 240 - 251
11/01/2004 Authors: Kerstann KF; Feingold E; Freeman SB; Bean LJH; Pyatt R; Tinker S; Jewel AH; Capone G; Sherman SL -
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.
Hum Genet Volume: 114 Page(s): 439 - 447
04/01/2004 Authors: Allen EG; He W; Yadav-Shah M; Sherman SL -
A trisomic transmission disequilibrium test.
Genet Epidemiol Volume: 26 Page(s): 125 - 131
02/01/2004 Authors: Xu Z; Kerstann KF; Sherman SL; Chakravarti A; Feingold E -
Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status.
Genet Med Volume: 6 Page(s): 487 - 494
01/01/2004 Authors: Christianson RE; Sherman SL; Torfs CP -
An association between meiotic recombination and advancing maternal age for trisomy 21.
Volume: 73 Page(s): 311 - 311
11/01/2003 Authors: Sherman SL; Feingold E; Lamb NE -
Genetic variation in the Collagen 6A1 and 6A2 genes in individuals with Down Syndrome with and without atrioventricular septal defects.
Volume: 73 Page(s): 536 - 536
11/01/2003 Authors: Pyatt RE; Gupte M; Torfs C; Capone G; Dooley K; Freeman SB; Sherman SL -
Association of FMR1 CGG repeat size, X-inactivation ratio and transcript level with cognitive performance among women.
Volume: 73 Page(s): 163 - 163
11/01/2003 Authors: Allen E; Letz R; Sherman S -
Recombination rate and reproductive success in humans.
Volume: 73 Page(s): 217 - 217
11/01/2003 Authors: Kong A; Barnard J; Gudbjartsson DF; Thorleifsson G; Jonsdottir G; Sigurdardottir S; Richardsson B; Palsdottir J; Thorgeirsson T; Frigge U -
Examination of molecular characteristics of the FMR1 gene: identifying risk factors for premature ovarian failure among female premutation carriers.
Volume: 73 Page(s): 542 - 542
11/01/2003 Authors: Sullivan AK; Allen EG; Sherman SL -
Recombination across the centromere of disjoined and non-disjoined chromosome 21.
Hum Mol Genet Volume: 12 Page(s): 2229 - 2239
09/01/2003 Authors: Laurent A-M; Li M; Sherman S; Roizs G; Buard J -
Comparing case-control and case-only results for genetic interactions
Volume: 157 Page(s): S72 - S72
06/01/2003 Authors: Winston C; Austin H; Dilley A; Hooper W; Evatt B; Sherman S -
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Am J Hum Genet Volume: 72 Page(s): 454 - 464
02/01/2003 Authors: Nolin SL; Brown WT; Glicksman A; Houck GE; Gargano AD; Sullivan A; Biancalana V; Brndum-Nielsen K; Hjalgrim H; Holinski-Feder E -
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction.
Am J Hum Genet Volume: 72 Page(s): 488 - 495
02/01/2003 Authors: Berend SA; Page SL; Atkinson W; McCaskill C; Lamb NE; Sherman SL; Shaffer LG -
Testing genotype-phenotye association in trisomic data.
Volume: 71 Page(s): 573 - 573
10/01/2002 Authors: Feingold E; Xu Z; Kerstann KF; Sherman SL -
The FMR1 premutation carrier and the premature ovarian failure phenotype.
Volume: 71 Page(s): 506 - 506
10/01/2002 Authors: Sullivan AK; Shubeck LJ; Allen EG; He W; Paquin JJ; Leslie ML; Scott LH; Sherman SL -
Variation of FMR1 mRNA levels by repeat size and X-inactivation pattern
Volume: 71 Page(s): 533 - 533
10/01/2002 Authors: Allen EG; Sherman SL -
Genetic variants associated with increased susceptibility for down syndrome-associated atrioventricular septal defects.
Volume: 71 Page(s): 445 - 445
10/01/2002 Authors: Kerstann KF; Freeman SB; Feingold E; Bean LJ; Meltzer M; Heffner A; Capone G; Sherman SL -
Prevalence of the fragile X syndrome in African-Americans.
Am J Med Genet Volume: 110 Page(s): 226 - 233
07/01/2002 Authors: Crawford DC; Meadows KL; Newman JL; Taft LF; Scott E; Leslie M; Shubek L; Holmgreen P; Yeargin-Allsopp M; Boyle C -
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
Am J Hum Genet Volume: 70 Page(s): 1532 - 1544
06/01/2002 Authors: Sullivan AK; Crawford DC; Scott EH; Leslie ML; Sherman SL -
Cognitive and behavioral performance among FMR1 high-repeat allele carriers surveyed from special education classes.
Am J Med Genet Volume: 114 Page(s): 458 - 465
05/08/2002 Authors: Sherman SL; Marsteller F; Abramowitz AJ; Scott E; Leslie M; Bregman J -
Analytic strategies for stroke genetics.
J Stroke Cerebrovasc Dis Volume: 11 Page(s): 272 - 278
01/01/2002 Authors: Hertzberg VS; Stern BJ; Sherman S -
Examining the relationship between meiotic recombination and chromosome 21 segregation.
BIOLOGY OF REPRODUCTION Volume: 66 Page(s): 81 - 82
01/01/2002 Authors: Lamb NE; Sherman SL -
Multipoint genetic mapping with trisomy data.
Am J Hum Genet Volume: 69 Page(s): 1255 - 1265
12/01/2001 Authors: Li J; Sherman SL; Lamb N; Zhao H -
An MAOA_VNTR and childhood behavior disorders.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 563 - 563
10/01/2001 Authors: Rowe DC; Black S; Gilson M; Brown H; Abramowitz A; Sherman S; Waldman ID -
Two dopamine genes related to reports of childhood retrospective inattention and conduct disorder symptoms.
Mol Psychiatry Volume: 6 Page(s): 429 - 433
07/01/2001 Authors: Rowe DC; Stever C; Chase D; Sherman S; Abramowitz A; Waldman ID -
FMR1 and the fragile X syndrome: human genome epidemiology review.
Genet Med Volume: 3 Page(s): 359 - 371
01/01/2001 Authors: Crawford DC; Acua JM; Sherman SL -
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR.
Hum Mol Genet Volume: 9 Page(s): 2909 - 2918
11/22/2000 Authors: Crawford DC; Wilson B; Sherman SL -
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool-PCR.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 25 - 25
10/01/2000 Authors: Crawford DC; Wilson B; Sherman SL -
Parent-child transmission of intermediate FMR1 CGG repeat alleles: Examination of factors associated with repeat instability.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 238 - 238
10/01/2000 Authors: Sullivan AK; Crawford DC; Meadows KL; Wilson B; Sherman SL -
Counting cross-overs: characterizing meiotic recombination in mammals.
Hum Mol Genet Volume: 9 Page(s): 2409 - 2419
10/01/2000 Authors: Hassold T; Sherman S; Hunt P -
Statistical methods for human nondisjunction data.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 52 - 52
10/01/2000 Authors: Li J; Zhao H; Sherman SL; Robinson WP -
FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 365 - 365
10/01/2000 Authors: Nolin SL; Rousseau F; Houck GE; Gargano AD; Biancalana V; Hinkle L; Hjalgrim H; Holinski-Feder E; Kooy F; Longshore J -
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.
Am J Hum Genet Volume: 67 Page(s): 623 - 630
09/01/2000 Authors: Hobbs CA; Sherman SL; Yi P; Hopkins SE; Torfs CP; Hine RJ; Pogribna M; Rozen R; James SJ -
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
Hum Mol Genet Volume: 9 Page(s): 1759 - 1769
07/22/2000 Authors: Crawford DC; Zhang F; Wilson B; Warren ST; Sherman SL -
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?
Am J Hum Genet Volume: 67 Page(s): 11 - 13
07/01/2000 Authors: Sherman SL -
Bias associated with study protocols in epidemiologic studies of disease familial aggregation.
Am J Epidemiol Volume: 151 Page(s): 927 - 937
05/01/2000 Authors: Bai Y; Sherman S; Khoury MJ; Flanders WD -
Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.
Am J Hum Genet Volume: 66 Page(s): 1680 - 1683
05/01/2000 Authors: Freeman SB; Yang Q; Allran K; Taft LF; Sherman SL -
Multipoint estimation of genetic maps for human trisomies with one parent or other partial data.
Am J Hum Genet Volume: 66 Page(s): 958 - 968
03/01/2000 Authors: Feingold E; Brown AS; Sherman SL -
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21.
Hum Mol Genet Volume: 9 Page(s): 515 - 523
03/01/2000 Authors: Brown AS; Feingold E; Broman KW; Sherman SL -
Down syndrome: genetic recombination and the origin of the extra chromosome 21.
Clin Genet Volume: 57 Page(s): 95 - 100
02/01/2000 Authors: Hassold T; Sherman S -
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.
Am J Hum Genet Volume: 66 Page(s): 480 - 493
02/01/2000 Authors: Crawford DC; Schwartz CE; Meadows KL; Newman JL; Taft LF; Gunter C; Brown WT; Carpenter NJ; Howard-Peebles PN; Monaghan KG -
Premature ovarian failure in the fragile X syndrome.
Am J Med Genet Volume: 97 Page(s): 189 - 194
01/01/2000 Authors: Sherman SL -
The DRD2 TaqI polymorphism and symptoms of attention deficit hyperactivity disorder.
Mol Psychiatry Volume: 4 Page(s): 580 - 586
11/01/1999 Authors: Rowe DC; Van den Oord EJ; Stever C; Giedinghagen LN; Gard JM; Cleveland HH; Gilson M; Terris ST; Mohr JH; Sherman S -
Novel repeat structures identified in African-Americans represent a new mechanism leading to fragile X CGG repeat instability.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A268 - A268
10/01/1999 Authors: Crawford DC; Schwartz CE; Warren ST; Sherman SL -
Cell-wide reduction of genomic recombination in human eggs with non-disjoined chromosomes 21.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A37 - A37
10/01/1999 Authors: Brown AS; Feingold E; Broman KW; Sherman SL -
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.
Am J Hum Genet Volume: 64 Page(s): 495 - 507
02/01/1999 Authors: Crawford DC; Meadows KL; Newman JL; Taft LF; Pettay DL; Gold LB; Hersey SJ; Hinkle EF; Stanfield ML; Holmgreen P -
Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study.
Genet Med Volume: 1 Page(s): 80 - 88
01/01/1999 Authors: Yang Q; Sherman SL; Hassold TJ; Allran K; Taft L; Pettay D; Khoury MJ; Erickson JD; Freeman SB -
Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity.
Am J Hum Genet Volume: 63 Page(s): 1767 - 1776
12/01/1998 Authors: Waldman ID; Rowe DC; Abramowitz A; Kozel ST; Mohr JH; Sherman SL; Cleveland HH; Sanders ML; Gard JM; Stever C -
FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy.
Hum Genet Volume: 103 Page(s): 654 - 657
12/01/1998 Authors: Hixon M; Millie E; Judis LA; Sherman S; Allran K; Taft L; Hassold T -
Population-based study of congenital heart defects in Down syndrome.
Am J Med Genet Volume: 80 Page(s): 213 - 217
11/16/1998 Authors: Freeman SB; Taft LF; Dooley KJ; Allran K; Sherman SL; Hassold TJ; Khoury MJ; Saker DM -
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
Hum Mol Genet Volume: 7 Page(s): 1935 - 1946
11/01/1998 Authors: Gunter C; Paradee W; Crawford DC; Meadows KA; Newman J; Kunst CB; Nelson DL; Schwartz C; Murray A; Macpherson JN -
Examination of factors associated with instability of the FMR1 CGG repeat.
Am J Hum Genet Volume: 63 Page(s): 776 - 785
09/01/1998 Authors: Ashley-Koch AE; Robinson H; Glicksman AE; Nolin SL; Schwartz CE; Brown WT; Turner G; Sherman SL -
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.
Hum Mol Genet Volume: 7 Page(s): 1221 - 1227
08/01/1998 Authors: Savage AR; Petersen MB; Pettay D; Taft L; Allran K; Freeman SB; Karadima G; Avramopoulos D; Torfs C; Mikkelsen M -
A branching non-linear autoregressive model for the transmission of the fragile X dynamic repeat mutation.
Ann Hum Genet Volume: 62 Page(s): 337 - 347
07/01/1998 Authors: Huggins RM; Loesch DZ; Sherman SL -
Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome.
Chromosoma Volume: 107 Page(s): 166 - 172
06/01/1998 Authors: Shen JJ; Sherman SL; Hassold TJ -
The relation of the dopamine transporter gene (DAT1) to symptoms of internalizing disorders in children.
Behav Genet Volume: 28 Page(s): 215 - 225
05/01/1998 Authors: Rowe DC; Stever C; Gard JM; Cleveland HH; Sanders ML; Abramowitz A; Kozol ST; Mohr JH; Sherman SL; Waldman ID -
Testing for contributions of mitochondrial DNA mutations to complex diseases.
Genet Epidemiol Volume: 15 Page(s): 451 - 469
01/01/1998 Authors: Sun F; Ashley-Koch AE; Durham LK; Feingold E; Halloran ME; Manatunga AK; Sherman SL -
A novel biallelic polymorphism in the FMR1 gene shows strong linkage disequilibrium With CGG repeats and flanking microsatellite markers.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A30 - A30
10/01/1997 Authors: Gunter C; Paradee W; Newman J; Sherman SL; Warren ST -
Elucidating the mechanisms of paternal nondisjunction of chromosome 21 in humans.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A50 - A50
10/01/1997 Authors: Savage A; Petersen MB; Mikkelsen M; Hassold T; Sherman S -
Identification of risk factors associated with instability of the FMR1 CGG repeat.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A303 - A303
10/01/1997 Authors: Ashley AE; Robinson H; Glicksman AE; Nolin SL; Schwartz C; Brown WT; Turner G; Sherman SL -
Somatic cell hybrid analysis of nondisjunction in Down syndrome: evidence that failure to recombine contributes to trisomy 21.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A140 - A140
10/01/1997 Authors: Shen JJ; Sherman SL; Hassold TJ -
FRAXA and haplotype associations: Significant differences between African-American and Caucasian populations.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A196 - A196
10/01/1997 Authors: Crawford DC; Newman JL; Meadows KL; Taft LF; Sherman SL -
A unified method for creating genetic maps for trisomies.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A198 - A198
10/01/1997 Authors: Feingold E; Savage AR; Sherman SL -
A significant association between maternal smoking and trisomy 21 is restricted to maternal meiosis II nondisjunction.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A51 - A51
10/01/1997 Authors: Freeman SB; Yang Q; Khoury M; Sherman SL -
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.
Hum Mol Genet Volume: 6 Page(s): 1391 - 1399
09/01/1997 Authors: Lamb NE; Feingold E; Savage A; Avramopoulos D; Freeman S; Gu Y; Hallberg A; Hersey J; Karadima G; Pettay D -
Estimating meiotic exchange patterns from recombination data: an application to humans.
Genetics Volume: 146 Page(s): 1011 - 1017
07/01/1997 Authors: Lamb NE; Feingold E; Sherman SL -
Behavioral genetics '97: ASHG statement. Recent developments in human behavioral genetics: past accomplishments and future directions.
Am J Hum Genet Volume: 60 Page(s): 1265 - 1275
06/01/1997 Authors: Sherman SL; DeFries JC; Gottesman II; Loehlin JC; Meyer JM; Pelias MZ; Rice J; Waldman I -
The method of sib-pair linkage analysis in context of case-control design.
Volume: 14 Page(s): 939 - 944
01/01/1997 Authors: Yang Q; Atkinson M; Sun F; Sherman S; Khoury MJ -
Examining the relationship between recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 21
CYTOGENETICS AND CELL GENETICS Volume: 79 Page(s): 51 - 51
01/01/1997 Authors: Lamb NE; Pettay D; Freeman SB; Peterson MB; Taft L; Hersey J; Gu Y; Austin AS; Shen J; Saker D -
Sequential sib-pair and association studies to detect genes in quantitative traits.
Genet Epidemiol Volume: 14 Page(s): 885 - 890
01/01/1997 Authors: Savage A; Sun F; Crawford DC; Ashley AE; Yang Q; Sherman SL -
Evolving methods in genetic epidemiology. IV. Approaches to non-Mendelian inheritance.
Epidemiol Rev Volume: 19 Page(s): 44 - 51
01/01/1997 Authors: Sherman SL -
Familial transmission of the FMR1 CGG repeat.
Am J Hum Genet Volume: 59 Page(s): 1252 - 1261
12/01/1996 Authors: Nolin SL; Lewis FA; Ye LL; Houck GE; Glicksman AE; Limprasert P; Li SY; Zhong N; Ashley AE; Feingold E -
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II.
Nat Genet Volume: 14 Page(s): 400 - 405
12/01/1996 Authors: Lamb NE; Freeman SB; Savage-Austin A; Pettay D; Taft L; Hersey J; Gu Y; Shen J; Saker D; May KM -
Genetic markers in childhood behavior disorders.
BEHAVIOR GENETICS Volume: 26 Page(s): 595 - 596
11/01/1996 Authors: Rowe DC; Stever C; Cleveland HH; Sanders ML; Abramowitz A; Kozel S; Mohr J; Sherman SL; Waldman ID -
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
Am J Med Genet Volume: 64 Page(s): 428 - 433
08/09/1996 Authors: Meadows KL; Pettay D; Newman J; Hersey J; Ashley AE; Sherman SL -
Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.
Am J Med Genet Volume: 64 Page(s): 256 - 260
08/09/1996 Authors: Sherman SL; Meadows KL; Ashley AE -
Seventh International Workshop on the Fragile X and X-linked Mental Retardation.
Am J Med Genet Volume: 64 Page(s): 1 - 14
07/12/1996 Authors: Tranebjaerg L; Lubs HA; Borghgraef M; Brown WT; Fisch G; Fryns JP; Hagerman R; Jacobs PA; Mandel JL; Mulley J -
Significance of linkage disequilibrium between the fragile X locus and its flanking markers.
Am J Med Genet Volume: 64 Page(s): 203 - 208
07/12/1996 Authors: Chiurazzi P; Macpherson J; Sherman S; Neri G -
Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study.
Am J Hum Genet Volume: 58 Page(s): 628 - 633
03/01/1996 Authors: Yoon PW; Freeman SB; Sherman SL; Taft LF; Gu Y; Pettay D; Flanders WD; Khoury MJ; Hassold TJ -
Recombination and nondisjunction in humans and flies.
Hum Mol Genet Volume: 5 Spec No Page(s): 1495 - 1504
01/01/1996 Authors: Koehler KE; Hawley RS; Sherman S; Hassold T -
Genetic epidemiologic methods to screen for matrilineal inheritance in mitochondrial disorders.
Genet Epidemiol Volume: 13 Page(s): 605 - 614
01/01/1996 Authors: Mili F; Flanders WD; Sherman SL; Go RC; Wallace DC -
Statistical models for trisomic phenotypes.
Am J Hum Genet Volume: 58 Page(s): 201 - 212
01/01/1996 Authors: Lamb NE; Feingold E; Sherman SL -
Non-disjunction in human sperm: evidence for an effect of increasing paternal age.
Hum Mol Genet Volume: 4 Page(s): 2227 - 2232
12/01/1995 Authors: Griffin DK; Abruzzo MA; Millie EA; Sheean LA; Feingold E; Sherman SL; Hassold TJ -
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.
Am J Hum Genet Volume: 57 Page(s): 1414 - 1425
12/01/1995 Authors: Ashley AE; Sherman SL -
The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population?
Am J Hum Genet Volume: 57 Page(s): 991 - 993
11/01/1995 Authors: Sherman SL -
Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16.
Am J Hum Genet Volume: 57 Page(s): 867 - 874
10/01/1995 Authors: Hassold T; Merrill M; Adkins K; Freeman S; Sherman S -
TRANSMISSION CHARACTERISTICS OF THE FMR-1 MUTATION IN THE COLLABORATIVE PROSPECTIVE-STUDY OF THE FRAGILE-X SYNDROME
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 906 - 906
10/01/1995 Authors: ASHLEY AE; MEADOWS KL; SHERMAN SL -
EVIDENCE FOR A FAMILIAL FACTOR INVOLVED IN CGG REPEAT EXPANSION IN FRAGILE-X SYNDROME
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 965 - 965
10/01/1995 Authors: NOLIN SL; GLICKSMAN A; LEWIS FA; YE LL; HOUCK GE; ASHLEY AE; SHERMAN SL; BROWN WT -
ADVANCED MATERNAL AND PATERNAL AGE AND THE RISK OF DOWN-SYNDROME CHARACTERIZED BY THE PARENTAL ORIGIN ROD THE MEIOTIC STAKE OF THE CHROMOSOMAL ERROR - A POPULATION-BASED STUDY
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 252 - 252
10/01/1995 Authors: YOON PW; FREEMAN SB; SHERMAN SL; TAFT LF; FLANDERS WD; KHOURY MJ; HASSOLD TJ -
EXAMINATION OF THE ROBUSTNESS OF A MAPPING STRATEGY USED TO IDENTIFY GENES INVOLVED IN TRISOMIC PHENOTYPES
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 946 - 946
10/01/1995 Authors: LAMB NE; FEINGOLD E; SHERMAN SL -
ADVANCED MATERNAL AND PATERNAL AGES AND THE RISK OF DOWN-SYNDROME CHARACTERIZED BY THE ORIGIN OF THE CHROMOSOMAL ERROR - A POPULATION-BASED STUDY
AMERICAN JOURNAL OF EPIDEMIOLOGY Volume: 141 Page(s): S3 - S3
06/01/1995 Authors: YOON PW; FREEMAN S; TAFT L; FLANDERS D; KHOURY M; SHERMAN S; HASSOLD T -
An n-allele model for progressive amplification in the FMR1 locus.
Proc Natl Acad Sci U S A Volume: 92 Page(s): 4833 - 4837
05/23/1995 Authors: Morris A; Morton NE; Collins A; Macpherson J; Nelson D; Sherman S -
Cytogenetic and molecular studies of Down syndrome individuals with leukemia.
Am J Hum Genet Volume: 56 Page(s): 915 - 925
04/01/1995 Authors: Shen JJ; Williams BJ; Zipursky A; Doyle J; Sherman SL; Jacobs PA; Shugar AL; Soukup SW; Hassold TJ -
Methods for genetic linkage analysis using trisomies.
Am J Hum Genet Volume: 56 Page(s): 475 - 483
02/01/1995 Authors: Feingold E; Lamb NE; Sherman SL -
PROGRESS TOWARDS A COMPLETE GENETIC AND PHYSICAL MAP OF CHROMOSOME-3
CYTOGENETICS AND CELL GENETICS Volume: 68 Page(s): 137 - 137
01/01/1995 Authors: OCONNELL P; MUNOZ C; BADURA M; SARDAR R; GONZALES O; FREEMEYER S; WINDLE B; PARRA I; STANTON V; HOUSMAN D -
The origin of trisomy in humans.
Prog Clin Biol Res Volume: 393 Page(s): 1 - 12
01/01/1995 Authors: Hassold T; Sherman S; Hunt PA -
Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods.
Genet Epidemiol Volume: 12 Page(s): 601 - 606
01/01/1995 Authors: Falk CT; Ashley A; Lamb N; Sherman SL -
Normal variation at the myotonic dystrophy locus in global human populations.
Am J Hum Genet Volume: 56 Page(s): 123 - 130
01/01/1995 Authors: Zerylnick C; Torroni A; Sherman SL; Warren ST -
A PCR-based genetic map for human chromosome 3.
Genomics Volume: 24 Page(s): 557 - 567
12/01/1994 Authors: O'Connell P; Leach RJ; Rains D; Taylor T; Garcia D; Ballard L; Holik P; Weissenbach J; Sherman S; Wilkie P -
Fragile X syndrome: diagnostic and carrier testing. Working Group of the Genetic Screening Subcommittee of the Clinical Practice Committee. American College of Medical Genetics.
Am J Med Genet Volume: 53 Page(s): 380 - 381
12/01/1994 -
Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.
Hum Genet Volume: 94 Page(s): 411 - 417
10/01/1994 Authors: Zaragoza MV; Jacobs PA; James RS; Rogan P; Sherman S; Hassold T -
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination.
Hum Mol Genet Volume: 3 Page(s): 1529 - 1535
09/01/1994 Authors: Sherman SL; Petersen MB; Freeman SB; Hersey J; Pettay D; Taft L; Frantzen M; Mikkelsen M; Hassold TJ -
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.
Hum Mol Genet Volume: 3 Page(s): 1355 - 1357
08/01/1994 Authors: Marinoni JC; Boyd E; Sherman S; Schwartz C -
Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.
Am J Med Genet Volume: 51 Page(s): 503 - 506
07/15/1994 Authors: Sherman SL; Maddalena A; Howard-Peebles PN; Brown WT; Nolin S; Jenkins E; Schwartz C; Tarrelton J; Shapiro LR; Smits AP -
CGG-repeat polymorphism of the BCR gene rules out predisposing alleles leading to the Philadelphia chromosome.
Genes Chromosomes Cancer Volume: 9 Page(s): 141 - 144
02/01/1994 Authors: Riggins GJ; Sherman SL; Phillips CN; Stock W; Westbrook CA; Warren ST -
A FRAMEWORK AND COMPREHENSIVE GENETIC-MAP OF CHROMOSOME-3
CYTOGENETICS AND CELL GENETICS Volume: 65 Page(s): 46 - 46
01/01/1994 Authors: SHERMAN SL; CHINN R; DRABKIN HA; DUBOIS B; GARCIA D; NAKAMURA Y; OCONNELL P; WEBER JL; WEISSENBACH J; WILKIE P -
Paternal nondisjunction in trisomy 21: excess of male patients.
Hum Mol Genet Volume: 2 Page(s): 1691 - 1695
10/01/1993 Authors: Petersen MB; Antonarakis SE; Hassold TJ; Freeman SB; Sherman SL; Avramopoulos D; Mikkelsen M -
NORMAL TRINUCLEOTIDE REPEAT VARIATION AT THE FMR-1, DM, AND HD LOCI IN HUMAN-POPULATIONS
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 77 - 77
09/01/1993 Authors: ZERYLNICK C; KUNST C; TORRONI A; SHERMAN SL; WARREN ST -
A MICROSATELLITE GENETIC-MAP FOR CHROMOSOME-3
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 1053 - 1053
09/01/1993 Authors: OCONNELL P; RAINS D; GARCIA D; MATSUNAMI N; ALBERTSEN H; WILKIE P; WEBER J; WEISSENBACH J; SHERMAN S; WHITE R -
IDENTIFICATION OF 2 POLYMORPHIC LOCI NEAR FMR-1 AND DEMONSTRATION OF MARKED LINKAGE DISEQUILIBRIUM WITHIN NORMAL AND BETWEEN ABNORMAL CGG-REPEAT LENGTHS
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 182 - 182
09/01/1993 Authors: KUNST C; KARICKHOFF L; ZERYLNICK C; HOLDEN J; NELSON DL; SHERMAN SL; WARREN ST -
A POLYMORPHIC CGG-REPEAT OF THE BCR GENE DEMONSTRATES A LACK OF IMPRINTING AND ALLELIC ASSOCIATION WITH PH1-POSITIVE LEUKEMIA
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 850 - 850
09/01/1993 Authors: RIGGINS GJ; SHERMAN SL; PHILLIPS CN; STOCK W; WESTBROOK CA; WARREN ST -
MUTATION AND LINKAGE ANALYSIS OF THE FANCONI-ANEMIA GENE FACC
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 53 Page(s): 11 - 11
09/01/1993 Authors: VERLANDER PC; LIN JD; UDONO MU; GIBSON RA; MATHEW CG; SHERMAN SL; AUERBACH AD -
Dinucleotide repeat loci contribute highly informative genetic markers to the human chromosome 2 linkage map.
Genomics Volume: 16 Page(s): 612 - 618
06/01/1993 Authors: Todd S; Sherman SL; Naylor SL -
Trisomy in humans: incidence, origin and etiology.
Curr Opin Genet Dev Volume: 3 Page(s): 398 - 403
06/01/1993 Authors: Hassold T; Hunt PA; Sherman S -
Concordance and recessive inheritance of Leber congenital amaurosis.
Am J Med Genet Volume: 46 Page(s): 275 - 277
05/15/1993 Authors: Lambert SR; Sherman S; Taylor D; Kriss A; Coffey R; Pembrey M -
LINKAGE OF A FANCONI-ANEMIA GENE TO CHROMOSOME 20Q
EXPERIMENTAL HEMATOLOGY Volume: 21 Page(s): 710 - 710
05/01/1993 Authors: AUERBACH AD; VERLANDER PC; MANN WR; ALLEN RG; ADLERBRECHER B; SHERMAN SL -
HUMAN GENES CONTAINING POLYMORPHIC TRINUCLEOTIDE REPEATS (VOL 2, PG 186, 1992)
NATURE GENETICS Volume: 3 Page(s): 273 - 273
03/01/1993 Authors: RIGGINS GJ; LOKEY LK; CHASTIN JL; LEINER HA; SHERMAN SL; WILKINSON KD; WARREN ST -
Distribution of lod scores under uncertain mode of inheritance.
Am J Hum Genet Volume: 52 Page(s): 354 - 361
02/01/1993 Authors: MacLean CJ; Bishop DT; Sherman SL; Diehl SR -
Human genes containing polymorphic trinucleotide repeats.
Nat Genet Volume: 2 Page(s): 186 - 191
11/01/1992 Authors: Riggins GJ; Lokey LK; Chastain JL; Leiner HA; Sherman SL; Wilkinson KD; Warren ST -
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
Ann Neurol Volume: 31 Page(s): 663 - 668
06/01/1992 Authors: Ryan SG; Sherman SL; Terry JC; Sparkes RS; Torres MC; Mackey RW -
Population screening for fragile X.
Lancet Volume: 339 Page(s): 1210 - 1213
05/16/1992 Authors: Turner G; Robinson H; Laing S; van den Berk M; Colley A; Goddard A; Sherman S; Partington M -
Correction of the evaluation of recombination in meiosis I and II nondisjunction in trisomy 21.
Am J Hum Genet Volume: 50 Page(s): 1137 - 1138
05/01/1992 Authors: Sherman S -
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.
Am J Med Genet Volume: 43 Page(s): 237 - 243
04/15/1992 Authors: Riggins GJ; Sherman SL; Oostra BA; Sutcliffe JS; Feitell D; Nelson DL; van Oost BA; Smits AP; Ramos FJ; Pfendner E -
Collaborative prospective study of the fragile X syndrome: one-year progress report.
Am J Med Genet Volume: 43 Page(s): 355 - 360
04/15/1992 Authors: Sherman SL; Barbi G; Brndum-Nielsen K; Brown WT; Carpenter NJ; Chudley AE; Ferraz OP; Ferreira P; Gustavson KH; Halliday J -
Genetic Analysis Workshop 7: summary of the melanoma workshop.
Volume: 59 Page(s): 148 - 158
01/01/1992 Authors: Risch N; Sherman S -
An application of empirical Bayes methods to updating linkage information on chromosome 21.
Cytogenet Cell Genet Volume: 59 Page(s): 112 - 113
01/01/1992 Authors: Bonney GE; Amfoh KK; Sherman SL; Keats BJ -
EFFICIENT METHODS FOR UPDATING LINKAGE MAPS
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 32 - 32
10/01/1991 Authors: KEATS BJB; AMFOH KK; SHERMAN SL; BONNEY GE -
SCREENING FOR THE FRAGILE X-SYNDROME - IMPACT OF GENETIC-COUNSELING ON REPRODUCTIVE CHOICES OF WOMEN AT RISK FOR HAVING AN AFFECTED CHILD
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 331 - 331
10/01/1991 Authors: TURNER G; ROBINSON H; LAING S; SHERMAN S -
HIGHLY POLYMORPHIC PCR BASED MARKERS FOR CHROMOSOME-3
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 352 - 352
10/01/1991 Authors: GARCIA D; SHERMAN S; LEACH R; SCHANTZ L; HUANG W; WOLF E; CHINN R; NAYLOR SL -
A FREQUENT DINUCLEOTIDE POLYMORPHISM OF THE FRAGILE-X BREAKPOINT CLUSTER REGION IS TIGHTLY LINKED TO THE FRAGILE-X SYNDROME LOCUS
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 357 - 357
10/01/1991 Authors: RIGGINS GJ; SHERMAN SL; OOSTRA BA; FEITELL D; SUTCLIFFE JS; NELSON DL; VANOOST BA; SMITS APT; KUHL D; CASKEY CT -
MUTATION AND GENETIC FITNESS OF HEMOPHILIA-A IN SOUTH AUSTRALIA
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 493 - 493
10/01/1991 Authors: SHEFFIELD L; SHERMAN S; MORTON N; BRAUN J; DUNCAN B; LLOYD J -
DOES ORIGIN OF CHROMOSOMAL ERROR INFLUENCE PHENOTYPE IN TRISOMY-21
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 257 - 257
10/01/1991 Authors: BLACKSTON RD; FREEMAN SB; SHERMAN SL; HASSOLD TJ -
FANCONI ANEMIA - LINKAGE ANALYSIS WITH ADA AND ADDITIONAL MARKERS ON CHROMOSOME-20Q
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Page(s): 350 - 350
10/01/1991 Authors: MANN WR; ALLEN RG; VENKATRAI VS; OLSEN DA; LIU Q; ADLERBRECHER B; SHERMAN SL; AUERBACH AD -
Trisomy 21: association between reduced recombination and nondisjunction.
Am J Hum Genet Volume: 49 Page(s): 608 - 620
09/01/1991 Authors: Sherman SL; Takaesu N; Freeman SB; Grantham M; Phillips C; Blackston RD; Jacobs PA; Cockwell AE; Freeman V; Uchida I -
XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.
Am J Hum Genet Volume: 49 Page(s): 253 - 260
08/01/1991 Authors: Hassold TJ; Sherman SL; Pettay D; Page DC; Jacobs PA -
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990).
Genomics Volume: 9 Page(s): 557 - 560
03/01/1991 Authors: Keats BJ; Sherman SL; Morton NE; Robson EB; Buetow KH; Cartwright PE; Chakravarti A; Francke U; Green PP; Ott J -
Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q.
Genomics Volume: 9 Page(s): 329 - 337
02/01/1991 Authors: Mann WR; Venkatraj VS; Allen RG; Liu Q; Olsen DA; Adler-Brecher B; Mao JI; Weiffenbach B; Sherman SL; Auerbach AD -
Conference report: Fourth International Workshop on the fragile X and X-linked mental retardation.
Am J Med Genet Volume: 38 Page(s): 158 - 172
01/01/1991 Authors: Brown WT; Jenkins E; Neri G; Lubs H; Shapiro LR; Davies KE; Sherman S; Hagerman R; Laird C -
A HIGHLY POLYMORPHIC DINUCLEOTIDE REPEAT, DXS 548, IS TIGHTLY LINKED TO THE FRAGILE-X SITE
CYTOGENETICS AND CELL GENETICS Volume: 58 Page(s): 2085 - 2085
01/01/1991 Authors: RIGGINS GJ; SHERMAN SL; OOSTRA BA; FEITELL D; SUTCLIFFE JS; NELSON DL; VANOOST BA; SMITS AP; KUHL D; CASKEY CT -
Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990).
Ann Hum Genet Volume: 55 Page(s): 1 - 6
01/01/1991 Authors: Keats BJ; Sherman SL; Morton NE; Robson EB; Buetow KH; Cartwright PE; Chakravarti A; Francke U; Green PP; Ott J -
Laboratory aspects of prenatal fra(X) detection.
Prog Clin Biol Res Volume: 368 Page(s): 27 - 42
01/01/1991 Authors: Jenkins EC; Krawczun MS; Brooks SE; Brooks SL; Sherman SL; Brown WT -
CA REPEAT POLYMORPHISMS FOR HUMAN CHROMOSOME-3
CYTOGENETICS AND CELL GENETICS Volume: 58 Page(s): 1877 - 1877
01/01/1991 Authors: GARCIA DK; SHERMAN S; LEACH RJ; SCHANTZ LJ; HUANG W; WOLF ME; CHINN RB; NAYLOR SL -
Genetic epidemiology of the fragile X syndrome with special reference to genetic counseling.
Prog Clin Biol Res Volume: 368 Page(s): 79 - 99
01/01/1991 Authors: Sherman SL -
Improved prenatal detection of fra(X)(q27.3): methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures.
Am J Med Genet Volume: 38 Page(s): 447 - 452
01/01/1991 Authors: Jenkins EC; Krawczun MS; Stark-Houck SL; Duncan CJ; Kunaporn S; Gu H; Schwartz-Richstein C; Howard-Peebles PN; Gross A; Sherman SL -
Collaborative prospective study of the fragile X syndrome: request for participation.
Am J Med Genet Volume: 38 Page(s): 396 - 399
01/01/1991 Authors: Sherman SL -
Report of the committee on linkage and gene order.
Cytogenet Cell Genet Volume: 55 Page(s): 387 - 394
01/01/1990 Authors: Keats BJ; Sherman SL; Ott J -
Studying nondisjunction of chromosome 21 with cytogenetic markers on the short arm and DNA markers encompassing the long arm.
Prog Clin Biol Res Volume: 311 Page(s): 101 - 113
01/01/1989 Authors: Buraczynska M; Stewart GD; Sherman S; Freeman V; Grantham M; Uchida I; Hassold T; Kurnit DM -
Mapping strategies for multiple linked markers.
Prog Clin Biol Res Volume: 329 Page(s): 75 - 80
01/01/1989 Authors: Speer MC; Sherman SL; Haynes CS; Pericak-Vance MA -
Report of the committee on the genetic constitution of chromosome 1.
Cytogenet Cell Genet Volume: 51 Page(s): 67 - 90
01/01/1989 Authors: Bruns GA; Sherman SL -
Combined segregation and linkage analysis for IDDM and HLA-DR under several ascertainment assumptions.
Genet Epidemiol Volume: 6 Page(s): 131 - 136
01/01/1989 Authors: Pascoe L; Sherman S; Wu D; Becker M; Falk C -
Recurrence risks for relatives in families with an isolated case of the fragile X syndrome.
Am J Med Genet Volume: 31 Page(s): 753 - 765
12/01/1988 Authors: Sherman SL; Rogatko A; Turner G -
Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies.
Am J Hum Genet Volume: 43 Page(s): 304 - 310
09/01/1988 Authors: Aston CE; Sherman SL; Morton NE; Speiser PW; New MI -
A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.
Am J Hum Genet Volume: 42 Page(s): 830 - 838
06/01/1988 Authors: Sherman SL; Aston CE; Morton NE; Speiser PW; New MI -
Report of the committee on the genetic constitution of chromosome 1.
Cytogenet Cell Genet Volume: 49 Page(s): 39 - 45
01/01/1988 Authors: Sherman SL; Bruns GA -
Investigation of the twinning rate in families with the fragile X syndrome.
Am J Med Genet Volume: 30 Page(s): 625 - 631
01/01/1988 Authors: Sherman SL; Turner G; Sheffield L; Laing S; Robinson H -
Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women.
Am J Med Genet Volume: 30 Page(s): 633 - 639
01/01/1988 Authors: Sherman SL; Turner G; Robinson H; Laing S -
Hypothesis regarding the nature of the fragile X mutation. A reply to Winter and Pembrey.
Hum Genet Volume: 75 Page(s): 294 - 295
03/01/1987 Authors: Brown WT; Sherman SL; Dobkin CS -
COMPARISON OF ORDERS INVOLVING FY AMONG PHYSICALLY LOCATED CHROMOSOME-1 MARKERS
CYTOGENETICS AND CELL GENETICS Volume: 46 Page(s): 691 - 691
01/01/1987 Authors: SHERMAN SL; LEWIS M; MCALPINE PJ; KING J -
REEVALUATION OF THE LOD SCORES INVOLVING JK AND CO TO THE CHROMOSOME-2 MARKERS OF IGK AND ACP1
CYTOGENETICS AND CELL GENETICS Volume: 46 Page(s): 637 - 637
01/01/1987 Authors: KEATS BJB; FALK CT; SHERMAN SL -
A counseling guide to the Martin-Bell syndrome.
Am J Med Genet Volume: 26 Page(s): 39 - 44
01/01/1987 Authors: Weaver DD; Sherman SL -
LINKAGE STUDIES IN MYOTONIC-DYSTROPHY AND CHROMOSOME-19 MARKERS
CYTOGENETICS AND CELL GENETICS Volume: 46 Page(s): 675 - 675
01/01/1987 Authors: PERICAKVANCE MA; BARTLETT RJ; YAMAOKA LH; HAYNES C; SHERMAN SL; THIBAULT MC; WIERINGA B; LABERGE C; ROPERS HH; SCHNEIDER S -
A new genetic model for the fragile X syndrome involving an autosomal suppressor gene--comments on the paper by M.H. Israel.
Am J Med Genet Volume: 26 Page(s): 33 - 36
01/01/1987 Authors: Sherman SL -
Response to Stene's comments on the segregation of balanced pericentric inversions.
Clin Genet Volume: 30 Page(s): 521 - 525
12/01/1986 Authors: Sherman SL; Iselius L -
Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.
Neurology Volume: 36 Page(s): 1418 - 1423
11/01/1986 Authors: Pericak-Vance MA; Yamaoka LH; Assinder RI; Hung WY; Bartlett RJ; Stajich JM; Gaskell PC; Ross DA; Sherman S; Fey GH -
Segregation analysis of balanced pericentric inversions in pedigree data.
Clin Genet Volume: 30 Page(s): 87 - 94
08/01/1986 Authors: Sherman SL; Iselius L; Gallano P; Buckton K; Collyer S; DeMey R; Kristoffersson U; Lindsten J; Mikkelsen M; Morton NE -
Segregation analysis of rare autosomal fragile sites.
Hum Genet Volume: 72 Page(s): 123 - 128
02/01/1986 Authors: Sherman SL; Sutherland GR -
Combined segregation and linkage analysis of coeliac disease.
Genet Epidemiol Suppl Volume: 1 Page(s): 283 - 288
01/01/1986 Authors: Sherman SL; Iselius L; Ellis A; Woodrow JC; MacLean CJ -
The fragile (X) syndrome: the mutation problem.
Am J Med Genet Volume: 23 Page(s): 611 - 617
01/01/1986 Authors: Jacobs PA; Sherman S; Turner G; Webb T -
A strategy for multipoint ordering: example of the 11p markers.
Genet Epidemiol Suppl Volume: 1 Page(s): 123 - 128
01/01/1986 Authors: Bishop DT; Sherman SL -
Genetic analysis workshop IV: summary for coeliac disease.
Genet Epidemiol Suppl Volume: 1 Page(s): 271 - 276
01/01/1986 Authors: Sherman SL -
Combined segregation and linkage analysis of multiple sclerosis.
Genet Epidemiol Suppl Volume: 1 Page(s): 393 - 398
01/01/1986 Authors: Sherman SL; Haile RW; MacLean CJ; Yee S -
A genetic map of chromosome 19 based on family linkage data.
Ann Hum Genet Volume: 49 Page(s): 181 - 187
07/01/1985 Authors: Sherman SL; Ball SP; Robson EB -
A GENETIC-MAP OF CHROMOSOME-19 BASED ON 2-POINT LOD TABLES
CYTOGENETICS AND CELL GENETICS Volume: 40 Page(s): 742 - 742
01/01/1985 Authors: SHERMAN SL; BALL SP; ROBSON EB -
Further segregation analysis of the fragile X syndrome with special reference to transmitting males.
Hum Genet Volume: 71 Page(s): 182 - 183
01/01/1985 Authors: Pembrey ME; Winter RM -
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2.
Cytogenet Cell Genet Volume: 40 Page(s): 67 - 106
01/01/1985 Authors: Povey S; Morton NE; Sherman SL -
Further segregation analysis of the fragile X syndrome with special reference to transmitting males.
Hum Genet Volume: 69 Page(s): 289 - 299
01/01/1985 Authors: Sherman SL; Jacobs PA; Morton NE; Froster-Iskenius U; Howard-Peebles PN; Nielsen KB; Partington MW; Sutherland GR; Turner G; Watson M -
A revised map of chromosome 1.
Ann Hum Genet Volume: 48 Page(s): 243 - 251
07/01/1984 Authors: Sherman SL; King J; Robson EB; Yee S -
APPLICATION OF MAXIMUM-LIKELIHOOD MAPPING TECHNIQUES TO CHROMOSOME-1
CYTOGENETICS AND CELL GENETICS Volume: 37 Page(s): 581 - 581
01/01/1984 Authors: SHERMAN SL; KING J; MORTON NE; YEE S -
Genetic Analysis Workshop II: combined segregation, linkage, and association analysis.
Genet Epidemiol Volume: 1 Page(s): 195 - 199
01/01/1984 Authors: Morton NE; Sherman SL; MacLean S; Yee S; Lew R -
The marker (X) syndrome: a cytogenetic and genetic analysis.
Ann Hum Genet Volume: 48 Page(s): 21 - 37
01/01/1984 Authors: Sherman SL; Morton NE; Jacobs PA; Turner G -
SEGREGATION ANALYSIS OF THE MARKER-X SYNDROME
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 35 Page(s): A207 - A207
01/01/1983 Authors: SHERMAN SL; MORTON NE; JACOBS PA; TURNER G -
EPIDEMIOLOGY OF MOTOR NEURON DISEASE
JOURNAL OF MEDICAL GENETICS Volume: 19 Page(s): 458 - 458
01/01/1982 Authors: SHERMAN S; HOLLOWAY S -
A SIMULATION STUDY OF THE ABNORMAL SEGREGATION PATTERN OF ALPORT SYNDROME
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 32 Page(s): A129 - A129
01/01/1980 Authors: SHERMAN SL; CONNEALLY PM; YU PL -
POPULATION GENETICS.
Volume: 12 Page(s): 1 - 36
01/01/1963 Authors: WALLACE B