Publications

Nolin SL et al.
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Genet Med 2015 May;17(5):358-64.
Yrigollen CM et al.
Transmission of an FMR1 permutation allele in a large family identified through newborn screening: the role of AGG interruptions.
J Hum Genet 2013; 1-7.
Nolin SL et al.
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Am J Med Genet 2013; 161(4):771-8.
Yrigollen CM et al.
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.
Genet Med 2012; 14(8):729-36.
Finucane B et al.
Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the National Society of Genetic Counselors.
J Genet Counsel 2012; 21(6):752-60.
Saul RA and Tarleton JC.
FMR1-Related Disorders. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors.
GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle; 1993-1998 June 16 [updated 2012 Apr 26].
Nolin SL et al.
Fragile X analysis of 1112 prenatal samples from 1991 to 2010.
Prenat Diagn 2011; 31(10):925-31.
American College of Obstetricians and Gynecologists Committeee on Genetics. Carrier screening for fragile X syndrome.
Obstet Gyn 2010; 116(4):1008-10.
Chen L et al.
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.
J Mol Diag 2010; 12(5): 589-600.
Filipovic-Sadic S et al.
A Novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in Fragile X Syndrome.
Clin Chem 2010; 56(3): 399-408.
Rodriguez-Revenga L et al.
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
Eur J Hum Genet 2009; 17(10):1359-62.
Fernandez-Carvajal I et al.
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
Mol Diagn 2009; 11(4):306-10.
McConkie-Rosell A et al.
Genetic counseling for fragile X syndrome: updated recommendations of the national society of genetic counselors.
J Genet Couns 2005; 14(4):249-70.
Nolin SL et al.
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Am J Hum Genet 2003; 72(2):454-64.
Crawford DC et al.
FMR1 and the fragile X syndrome: human genome epidemiology review.
Genet Med 2001; 3(5):359-71.
Sherman SL.
Premature ovarian failure in the fragile X syndrome.
Am J Med Gen 2000; 97(3):189-94.
Zhong N et al.
Fragile X “gray zone” alleles: AGG patterns, expansion risks, and associated haplotypes.
Am J Med Genet 1996; 64(2):261-5.
Nolin SL et al.
Familial transmission of the FMR1 CGG repeat.
Am J Hum Genet 1996; 59(6):1252-61.
Eichler EE et al.
Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
Nat Genet 1994; 8(1):88-94.
Kunst CB et al.
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
Cell 1994; 77(6):853-61