FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder

(2012) K. Mondal et al.   HUMAN MOLECULAR GENETICS

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

(2012) J. Rainger et al.   HUMAN MOLECULAR GENETICS

Diced Triplets Expose Neurons to RISC

(2012) Dobrila D. Rudnicki et al.   PLoS Genetics

Transcription-induced DNA toxicity at trinucleotide repeats

(2011) Yunfu Lin et al.   CELL CYCLE

Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability

(2011) Mireille Melko et al.   HUMAN MOLECULAR GENETICS

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues

(2011) M. M. Axford et al.   JOURNAL OF MEDICAL GENETICS

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders

(2011) Marzena Wojciechowska et al.   RNA Biology

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

(2009) E Steichen-Gersdorf et al.   CLINICAL GENETICS

A fragile secondary constriction on chromosome 2 in five patients with different clinical features

(2009) GÖRAN ANNERÉN et al.   HEREDITAS

Chromatin Remodeling in the Noncoding Repeat Expansion Diseases

(2008) Daman Kumari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel CpG Island Set Identifies Tissue-Specific Methylation at Developmental Gene Loci

(2008) Robert Illingworth et al.   PLOS BIOLOGY