Citation Impact
Citing Papers
FMR1 and the fragile X syndrome: Human genome epidemiology review
2001
The fragile X syndrome.
1998
Advances in Molecular Analysis of Fragile X Syndrome
1994
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
1995
Insertional translocations: Report of two new families and review of the literature
1988
Prevalence of fragile X syndrome
1996
Invasive Prenatal Diagnostic Techniques
2005
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
2006
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
The adolescent brain and age-related behavioral manifestations
2000 Standout
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
1997
Executive Functions and Developmental Psychopathology
1996 Standout
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain
2000
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
DNA Methylation and Its Basic Function
2012 Standout
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
1991
Unique features of long non-coding RNA biogenesis and function
2015 Standout
Genetic Factors in Child Psychiatric Disorders—II. Empirical Findings
1990
Minor Physical Anomalies, Dermatoglyphic Asymmetries, and Cortisol Levels in Adolescents With Schizotypal Personality Disorder
1999
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey
1997
Obesity in children and young people: a crisis in public health
2004 Standout
Prader-Willi syndrome
2012
DNA methylation and human disease
2005 Standout
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and del(10)(q21.2q22.1) in first cousins
1997 StandoutNobel
A Biologist'S Reflections on Dermatology
1971
Controls of Hair Follicle Cycling
2001 Standout
Protein structure prediction for the male-specific region of the human Y chromosome
2004 StandoutNobel
Prevalence Estimation of Williams Syndrome
2002 Standout
Guidelines for the management of hemophilia
2012 Standout
Works of Stuart Purvis‐Smith being referenced
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.
1992
PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS
1985
Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.
1987
Genetic and Environmental Influences on Digital Dermatoglyphics in Congenital Rubella
1973
Preventive Screening for the Fragile X Syndrome
1986
Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
1993
DERMATOGLYPHIC DEFECTS IN CHILDREN WITH LEUKÆMIA
1969
Preventive screening for fragile X syndrome.
1986