Publications by authors named "Stephanie L Sherman"

94Publications

Study of telomere length in men who carry a fragile X premutation or full mutation allele.

Hum Genet 2020 Dec 12;139(12):1531-1539. Epub 2020 Jun 12.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 325.1, Atlanta, GA, 30322, USA.

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http://dx.doi.org/10.1007/s00439-020-02194-8DOI Listing
December 2020

Down syndrome.

Nat Rev Dis Primers 2020 02 6;6(1). Epub 2020 Feb 6.

Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/s41572-019-0143-7DOI Listing
February 2020

Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material.

J Genet Couns 2020 Jan 30. Epub 2020 Jan 30.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1002/jgc4.1222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7390709PMC
January 2020

Clustering of comorbid conditions among women who carry an FMR1 premutation.

Genet Med 2020 04 3;22(4):758-766. Epub 2020 Jan 3.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1038/s41436-019-0733-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118023PMC
April 2020

A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.

PLoS Genet 2019 12 12;15(12):e1008414. Epub 2019 Dec 12.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1008414DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6932832PMC
December 2019

Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes.

Hum Mol Genet 2020 01;29(2):238-247

Department of Human Genetics, Emory University School of Medicine, Atlanta, 30322, USA.

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http://dx.doi.org/10.1093/hmg/ddz279DOI Listing
January 2020

The association between maternal occupation and down syndrome: A report from the national Down syndrome project.

Int J Hyg Environ Health 2020 01 10;223(1):207-213. Epub 2019 Sep 10.

Department of Human Genetics, Emory School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ijheh.2019.09.001DOI Listing
January 2020

Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome.

J Autism Dev Disord 2019 Sep;49(9):3543-3556

Department of Human Genetics, Emory University, 615 Michael St, Whitehead Bldg, Atlanta, GA, 30322, USA.

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http://dx.doi.org/10.1007/s10803-019-04074-1DOI Listing
September 2019

Preventive care services and health behaviors in children with fragile X syndrome.

Disabil Health J 2019 10 3;12(4):564-573. Epub 2019 May 3.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway NE, Atlanta, GA, 30341, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19366574193006
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http://dx.doi.org/10.1016/j.dhjo.2019.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778488PMC
October 2019

Feasibility of an app-based mindfulness intervention among women with an FMR1 premutation experiencing maternal stress.

Res Dev Disabil 2019 Jun 5;89:76-82. Epub 2019 Apr 5.

Department of Human Genetics, Emory University, Atlanta, GA, 30322, United States.

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http://dx.doi.org/10.1016/j.ridd.2019.03.008DOI Listing
June 2019

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.

Front Genet 2018 27;9:529. Epub 2018 Nov 27.

Sheba Medical Center, Tel Hashomer and Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.3389/fgene.2018.00529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278244PMC
November 2018

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 2018 11;123(6):514-528

Tracie C. Rosser, Emory University; Jamie O. Edgin, University of Arizona; George T. Capone, Kennedy Krieger Institute; Debra R. Hamilton, Emory University; Emily G. Allen, Emory University; Kenneth J. Dooley, Emory University; Payal Anand, University of Arizona; John F. Strang, Children's National Medical Center; A. Chelsea Armour, Children's National Medical Center; Michelle A. Frank-Crawford, Kennedy Krieger Institute; Marie Moore Channell, MIND Institute; Elizabeth I. Pierpont, University of Wisconsin; Eleanor Feingold, University of Pittsburgh; Cheryl L. Maslen, Oregon Health & Science University; Roger H. Reeves, Johns Hopkins University; and Stephanie L. Sherman, Emory University.

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http://dx.doi.org/10.1352/1944-7558-123.6.514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7100339PMC
November 2018

Newton E. Morton (1929-2018).

Am J Hum Genet 2018 Jun 8;102(6):1011-1017. Epub 2018 Jun 8.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94158, USA; Kaiser Permanente Northern California, Division of Research, Oakland, CA 94612, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.005DOI Listing
June 2018

Attendance at Fragile X Specialty Clinics: Facilitators and Barriers.

Am J Intellect Dev Disabil 2017 11;122(6):457-475

Stephanie L. Sherman, Emory University.

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http://dx.doi.org/10.1352/1944-7558-122.6.457DOI Listing
November 2017

Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.

Am J Med Genet A 2017 Nov 21;173(11):2985-2994. Epub 2017 Sep 21.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.38476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650511PMC
November 2017

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Pediatrics 2017 Jun;139(Suppl 3):S183-S193

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.

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http://dx.doi.org/10.1542/peds.2016-1159EDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621599PMC
June 2017

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.

Environ Int 2017 10 30;107:227-234. Epub 2017 Jul 30.

Department of Human Genetics, School of Medicine, Emory University, Whitehead Biomedical Research Building, Suite 301, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.envint.2017.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569895PMC
October 2017

Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.

J Genet Couns 2017 Dec 24;26(6):1333-1340. Epub 2017 May 24.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s10897-017-0111-xDOI Listing
December 2017

Genome-Wide Association Study of Meiotic Recombination Phenotypes.

G3 (Bethesda) 2016 12 7;6(12):3995-4007. Epub 2016 Dec 7.

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261.

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http://dx.doi.org/10.1534/g3.116.035766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5144969PMC
December 2016

Importance of a specialty clinic for individuals with fragile X syndrome.

Am J Med Genet A 2016 12 20;170(12):3144-3149. Epub 2016 Sep 20.

Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1002/ajmg.a.37982DOI Listing
December 2016

Clinicians' experiences with the fragile X clinical and research consortium.

Am J Med Genet A 2016 12 8;170(12):3138-3143. Epub 2016 Sep 8.

National Fragile X Foundation, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.37948DOI Listing
December 2016

Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).

Menopause 2016 09;23(9):993-9

1Division of Reproductive Endocrinology and Infertility2Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.

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http://dx.doi.org/10.1097/GME.0000000000000658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4998843PMC
September 2016

Regionally Smoothed Meta-Analysis Methods for GWAS Datasets.

Genet Epidemiol 2016 Feb 28;40(2):154-60. Epub 2015 Dec 28.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://dx.doi.org/10.1002/gepi.21949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724289PMC
February 2016

Cognitive aspects of Fragile X syndrome.

Wiley Interdiscip Rev Cogn Sci 2014 Jul 29;5(4):501-508. Epub 2014 May 29.

Department of Human Genetics, Emory University, Decatur, GA, USA.

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http://dx.doi.org/10.1002/wcs.1296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254684PMC
July 2014

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).

J Neurodev Disord 2014 13;6(1):26. Epub 2014 Aug 13.

Laboratory of Molecular and Cellular Biology, NIDDK, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/1866-1955-6-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139715PMC
August 2014

Olfactory dysfunction in fragile X tremor ataxia syndrome.

Mov Disord 2012 Oct 24;27(12):1556-9. Epub 2012 Sep 24.

Department of Neurology, Emory University School of Medicine, Atlanta, Georgia 30329, USA.

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http://dx.doi.org/10.1002/mds.25043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696490PMC
October 2012

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice.

Hum Mol Genet 2012 Dec 21;21(23):5039-47. Epub 2012 Aug 21.

State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, PR China.

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http://dx.doi.org/10.1093/hmg/dds348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490511PMC
December 2012

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21.

Hum Genet 2012 Jul 9;131(7):1039-46. Epub 2011 Dec 9.

Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Suite 301, Whitehead Bldg, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1007/s00439-011-1121-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925977PMC
July 2012

The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance.

Behav Genet 2012 May 19;42(3):415-22. Epub 2011 Nov 19.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1007/s10519-011-9520-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696489PMC
May 2012

Neurodevelopmental outcomes in children with Down syndrome and congenital heart defects.

Am J Med Genet A 2011 Nov 19;155A(11):2688-91. Epub 2011 Sep 19.

Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.34252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200497PMC
November 2011

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

Prenat Diagn 2011 Oct 30;31(10):925-31. Epub 2011 Jun 30.

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1002/pd.2815DOI Listing
October 2011

Development and validation of the Arizona Cognitive Test Battery for Down syndrome.

J Neurodev Disord 2010 Sep;2(3):149-164

Department of Psychology, University of Arizona, 1503 E. University Blvd., Tucson, AZ 85721, USA.

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http://dx.doi.org/10.1007/s11689-010-9054-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026140PMC
September 2010

Genetics. Genetic control of hotspots.

Science 2010 Feb;327(5967):791-2

Howard Hughes Medical Institute, Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1126/science.1187155DOI Listing
February 2010

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

J Hum Genet 2010 Jan 20;55(1):66-8. Epub 2009 Nov 20.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1038/jhg.2009.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122982PMC
January 2010

Decisions to participate in fragile X and other genomics-related research: Native American and African American voices.

J Cult Divers 2009 ;16(3):127-35

University of Oklahoma Health Service Center, College of Nursing, Oklahoma City, USA.

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January 2010

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

Am J Hum Genet 2009 Oct;85(4):503-14

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756550PMC
October 2009

Genetic analysis of variation in human meiotic recombination.

PLoS Genet 2009 Sep 18;5(9):e1000648. Epub 2009 Sep 18.

Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2730532PMC
September 2009

Investigation of factors associated with paternal nondisjunction of chromosome 21.

Am J Med Genet A 2009 Aug;149A(8):1685-90

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1002/ajmg.a.32942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111419PMC
August 2009

A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay.

Nucleic Acids Res 2008 Dec 21;36(22):e145. Epub 2008 Oct 21.

Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1093/nar/gkn736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2602776PMC
December 2008

Smarter clustering methods for SNP genotype calling.

Bioinformatics 2008 Dec 29;24(23):2665-71. Epub 2008 Sep 29.

Department of Biostatistics, Department of Medicine, Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1093/bioinformatics/btn509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732271PMC
December 2008

Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency.

Ann N Y Acad Sci 2008 ;1135:99-111

Department of Human Genetics, School of Medicine, Emory University, Atlanta, Georgia 30322, USA.

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http://doi.wiley.com/10.1196/annals.1429.029
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http://dx.doi.org/10.1196/annals.1429.029DOI Listing
September 2008

Investigation of phenotypes associated with mood and anxiety among male and female fragile X premutation carriers.

Behav Genet 2008 Sep 6;38(5):493-502. Epub 2008 Jun 6.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Suite 301, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1007/s10519-008-9214-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696488PMC
September 2008

New insights into human nondisjunction of chromosome 21 in oocytes.

PLoS Genet 2008 Mar 14;4(3):e1000033. Epub 2008 Mar 14.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265487PMC
March 2008

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.

Genet Epidemiol 2008 Sep;32(6):553-9

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1002/gepi.20329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881575PMC
September 2008

Epidemiology of Down syndrome.

Ment Retard Dev Disabil Res Rev 2007 ;13(3):221-7

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1002/mrdd.20157DOI Listing
April 2008

Attitudes toward fragile X mutation carrier testing from women identified in a general population survey.

J Genet Couns 2007 Feb 13;16(1):97-104. Epub 2007 Feb 13.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://link.springer.com/10.1007/s10897-006-9049-0
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http://dx.doi.org/10.1007/s10897-006-9049-0DOI Listing
February 2007

The FMR1 premutation and reproduction.

Fertil Steril 2007 Mar 30;87(3):456-65. Epub 2006 Oct 30.

Intramural Research Program, Section on Women's Health Research, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1103, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2006.09.004DOI Listing
March 2007

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Am J Med Genet A 2006 Nov;140(22):2501-5

Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland 97239, USA.

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http://dx.doi.org/10.1002/ajmg.a.31494DOI Listing
November 2006

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.

J Genet Couns 2005 Aug;14(4):295-306

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1007/s10897-005-1159-6DOI Listing
August 2005

CYP17 genotype predicts serum hormone levels among pre-menopausal women.

Hum Reprod 2005 Aug 5;20(8):2162-7. Epub 2005 May 5.

Department of Epidemiology, Emory University, Atlanta, Georgia and American Cancer Society, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1093/humrep/dei054DOI Listing
August 2005

Association between maternal age and meiotic recombination for trisomy 21.

Am J Hum Genet 2005 Jan 18;76(1):91-9. Epub 2004 Nov 18.

Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1086/427266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196437PMC
January 2005

Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status.

Genet Med 2004 Nov-Dec;6(6):487-94

Child Health and Development Studies, Berkeley, California, USA.

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http://dx.doi.org/10.1097/01.gim.0000144017.39690.4eDOI Listing
February 2005

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.

Hum Genet 2004 Apr 3;114(5):439-47. Epub 2004 Feb 3.

Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1007/s00439-004-1086-xDOI Listing
April 2004

A trisomic transmission disequilibrium test.

Genet Epidemiol 2004 Feb;26(2):125-31

Department of Biostatistics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1002/gepi.10302DOI Listing
February 2004

Prevalence of the fragile X syndrome in African-Americans.

Am J Med Genet 2002 Jul;110(3):226-33

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1002/ajmg.10427DOI Listing
July 2002

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.

Am J Hum Genet 2002 Jun 3;70(6):1532-44. Epub 2002 May 3.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1086/340846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379140PMC
June 2002