Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

(2013) Hanna IJspeert et al.   HUMAN MUTATION

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

(2013) Jennie E. Murray et al.   HUMAN MUTATION

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Lynx: a database and knowledge extraction engine for integrative medicine

(2013) Dinanath Sulakhe et al.   NUCLEIC ACIDS RESEARCH

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

(2013) Tom Stiff et al.   PLoS Genetics

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

(2012) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Establishment of the vertebrate kinetochores

(2012) Tetsuya Hori et al.   CHROMOSOME RESEARCH

The Vertebrate Mitotic Checkpoint Protein BUBR1 Is an Unusual Pseudokinase

(2012) Saskia J.E. Suijkerbuijk et al.   DEVELOPMENTAL CELL

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

(2012) A. Genin et al.   HUMAN MOLECULAR GENETICS

CENP-E–dependent BubR1 autophosphorylation enhances chromosome alignment and the mitotic checkpoint

(2012) Yige Guo et al.   JOURNAL OF CELL BIOLOGY

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

(2012) Tomoo Ogi et al.   PLoS Genetics

Protein Interaction Domain Mapping of Human Kinetochore Protein Blinkin Reveals a Consensus Motif for Binding of Spindle Assembly Checkpoint Proteins Bub1 and BubR1

(2011) T. Kiyomitsu et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

(2011) Katie Snape et al.   NATURE GENETICS

A primary microcephaly protein complex forms a ring around parental centrioles

(2011) Joo-Hee Sir et al.   NATURE GENETICS

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

(2011) Saqib Mahmood et al.   Orphanet Journal of Rare Diseases

Spindle assembly checkpoint: the third decade

(2011) A. Musacchio   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aurora Kinases and Protein Phosphatase 1 Mediate Chromosome Congression through Regulation of CENP-E

(2010) Yumi Kim et al.   CELL

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The life and miracles of kinetochores

(2009) Stefano Santaguida et al.   EMBO JOURNAL

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

(2009) Alexandra Tibelius et al.   JOURNAL OF CELL BIOLOGY

The Crystal Structure of the N-Terminal Region of BUB1 Provides Insight into the Mechanism of BUB1 Recruitment to Kinetochores

(2009) Victor M. Bolanos-Garcia et al.   STRUCTURE

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN GENETICS

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

CENP-E combines a slow, processive motor and a flexible coiled coil to produce an essential motile kinetochore tether

(2008) Yumi Kim et al.   JOURNAL OF CELL BIOLOGY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE