Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
FMR1 in global populations.
1996
The X chromosome and fragile X mental retardation
2002
FMR1 and the fragile X syndrome: Human genome epidemiology review
2001
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
1994
The fragile X syndrome.
1998
Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.
1994
Molecular and cellular genetics of fragile X syndrome
1999
Characterization of the full fragile X syndrome mutation in fetal gametes
1997
Germline development from human pluripotent stem cells toward disease modeling of infertility
2012 StandoutNobel
ECLAMC: The Latin-American Collaborative Study of Congenital Malformations
2004 Standout
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
Epigenetics in human disease and prospects for epigenetic therapy
2004 StandoutNature
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
The Importance of Race and Ethnic Background in Biomedical Research and Clinical Practice
2003 Standout
Fragile sites still breaking
1998
The genetical history of humans and the great apes
2002 StandoutNobel
Short tandem repeat polymorphism evolution in humans
1998
Polycystic ovary syndrome
2016 Standout
Evidence for Gradients of Human Genetic Diversity Within and Among Continents
2004 StandoutNobel
A census of human cancer genes
2004 Standout
Anti-Müllerian hormone: an ovarian reserve marker in primary ovarian insufficiency
2012
DNA methylation and human disease
2005 Standout
Model of autism: increased ratio of excitation/inhibition in key neural systems
2003 Standout
Genetic Structure of Human Populations
2002 StandoutScience
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Multiple Pathways of Recombination Induced by Double-Strand Breaks in Saccharomyces cerevisiae
1999 Standout
Genes involved in human premature ovarian failure
2010
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993
Works of John MacPherson being referenced
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
1993
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1
1998
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
2010
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
1995
The Role of Size, Sequence and Haplotype in the Stability of FRAXA and FRAXE Alleles during Transmission
1997
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.
1992
FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability
1998
Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
1992