American Journal of Human Genetics Journal

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. 106:26-40. 2020
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy. 105:1076-1090. 2019
Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries. 93:852-864. 2013
RAD21 Mutations Cause a Human Cohesinopathy. 90:1014-1027. 2012
Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean. 83:633-642. 2008
The Dawn of Human Matrilineal Diversity. 82:1130-1140. 2008
Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation. 74:1051-1056. 2004
Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates. 72:869-878. 2003
An RBMX-like gene selectively expressed in testis and located at 9p24.. 67:196-196. 2000
Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome. 66:6-15. 2000
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation. 65:567-569. 1999
MALE SEX DETERMINATION WITHOUT SRY IN A MOLE PROVIDES DETAILS FOR MAMMALIAN SEX DETERMINATION. 57:760-760. 1995
An amino acid substitution in the pyruvate dehydrogenase E1α gene, affecting mitochondrial import of the precursor protein. 57:772-780. 1995
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. 57:1408-1413. 1995
Timing and genetic rapport between growth in skeletal maturity and height around puberty: Similarities and differences between girls and boys. 56:753-759. 1995
Genotype-phenotype relationships in fragile X syndrome: A family study. 53:1064-1073. 1993
Fixed and random effects in the variation of the finger ridge count: A study of fragile-X families. 50:1067-1076. 1992
Fragile-X syndrome: Unique genetics of the heritable unstable element. 50:968-980. 1992
Analysis of chromosome 21 yeast artificial chromosome (YAC) clones. 51:1251-1264. 1992
ESTIMATION OF THE EFFECTS OF FRAGILE-X ON DISTRIBUTIONS OF PHYSICAL AND INTELLECTUAL MEASURES USING A MAXIMUM-LIKELIHOOD SCORING TECHNIQUE. 49:474-474. 1991
HETEROGENEITY OF THE MOLECULAR DEFECT IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY. 34:A52-A52. 1982
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements 2018
Correlations between DNA, FMRP, and mRNA levels and ADOS-G and ADI-R scores in patients with Fragile X Syndrome. 2003
Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome. 2003
FMRP, FMR1-mRNA, and psychopathology correlations in women with the fragile X premutation. 2003
Fragile X-associated tremor/ataxia syndrome (FXTAS) involvement in females 2003
Intranuclear inclusions in fragile X-associated tremor/ataxia syndrome neuronal cells from five premutation carriers. 2003
Intranuclear neuronal inclusions in two female carriers of the fragile X premutation 2003
Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from a California family-based study. 2003
Characterization of a progressive neurological condition in older adult male carriers of the fragile X premutation. 2002
Methylation analysis of the promoter region in fragile X males with hypermethylated, full mutation alleles 2002
Neuronal intranuclear inclusions in a tremor/ataxia syndrome among fragile X premutation carriers. 2002
The fragile X premutation and autistic spectrum disorders. 2002
Neuropathology and neurodegenerative features in some older male premutation carriers of fragile X syndrome. 2001
Adaptive functioning and molecular relationships in individuals with fragile X syndrome. 2000
Cerebellar tremor and cerebellar cortical atrophy in older males with the fragile X premutation. 2000
Clinical and molecular correlations in individuals with a fragile X full mutation. 2000
FMR1 mRNA expression levels in fragile X. 1999
A compound heterozygous female with fragile X syndrome. 1997
FMRP expression as a potential prognostic indicator in fragile X syndrome. 1997
Identical premutation size in multiple tissues of a male fragile X carrier. 1997
RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements 2017

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