Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel–Gruber syndrome

(2013) Gabrielle Wheway et al.   DEVELOPMENTAL BIOLOGY

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

(2013) Karine Poirier et al.   NATURE GENETICS

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination

(2013) Kohei Fujikura et al.   PLoS One

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TCTN3 Mutations Cause Mohr-Majewski Syndrome

(2012) Sophie Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Cilia in vertebrate development and disease

(2012) E. C. Oh et al.   DEVELOPMENT

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome

(2012) Audrey Putoux et al.   JOURNAL OF MEDICAL GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

(2012) A. Aguilar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cilia and cell cycle re-entry

(2011) Sehyun Kim et al.   CELL CYCLE

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

(2011) SHIFTEH SATTAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Dominant activation of the hedgehog signaling pathway alters development of the female reproductive tract

(2011) Fernando F. Migone et al.   GENESIS

The cilia protein IFT88 is required for spindle orientation in mitosis

(2011) Benedicte Delaval et al.   NATURE CELL BIOLOGY

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

(2011) Sehyun Kim et al.   NATURE CELL BIOLOGY

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

A role for central spindle proteins in cilia structure and function

(2010) Katherine R. Smith et al.   Cytoskeleton

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality

(2008) Muriel Chauvière et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Intraflagellar transport motors in cilia: moving along the cell's antenna

(2008) Jonathan M. Scholey   JOURNAL OF CELL BIOLOGY

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

 -Arrestin-Mediated Localization of Smoothened to the Primary Cilium

(2008) J. J. Kovacs et al.   SCIENCE