Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

Molecular Causes for BUBR1 Dysfunction in the Human Cancer Predisposition Syndrome Mosaic Variegated Aneuploidy

(2010) Saskia J.E. Suijkerbuijk et al.   CANCER RESEARCH

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Boveri revisited: chromosomal instability, aneuploidy and tumorigenesis

(2009) Andrew J. Holland et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

(2009) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Pivotal Role of Translokin/CEP57 in the Unconventional Secretion Versus Nuclear Translocation of FGF2

(2009) Sylvain Meunier et al.   TRAFFIC

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes

(2008) Herbert García‐Castillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cep57, a multidomain protein with unique microtubule and centrosomal localization domains

(2008) Ko Momotani et al.   BIOCHEMICAL JOURNAL

Aneuploidy: Cells Losing Their Balance

(2008) Eduardo M. Torres et al.   GENETICS