Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

(2019) Tahir N. Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

(2019) Muhammad Ansar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

(2019) Kamal Khan et al.   GENETICS IN MEDICINE

Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation

(2019) Marie R. Mooney et al.   Frontiers in Genetics

Cilium structure, assembly, and disassembly regulated by the cytoskeleton

(2018) Mary Mirvis et al.   BIOCHEMICAL JOURNAL

The complexity of the cilium: spatiotemporal diversity of an ancient organelle

(2018) Westley Heydeck et al.   CURRENT OPINION IN CELL BIOLOGY

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

(2018) I-Chun Tsai et al.   Scientific Reports

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

(2017) M. R. F. Reijnders et al.   Nature Communications

Congenital valvular defects associated with deleterious mutations in the PLD1 gene

(2016) Asaf Ta-Shma et al.   JOURNAL OF MEDICAL GENETICS

Proteomics of Primary Cilia by Proximity Labeling

(2015) David U. Mick et al.   DEVELOPMENTAL CELL

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A human laterality disorder caused by a homozygous deleterious mutation inMMP21

(2015) Zeev Perles et al.   JOURNAL OF MEDICAL GENETICS

Identification of cis-suppression of human disease mutations by comparative genomics

(2015) Daniel M. Jordan et al.   NATURE

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

(2014) Alberto Magi et al.   BIOINFORMATICS

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proteomic Analysis of Mammalian Primary Cilia

(2012) Hiroaki Ishikawa et al.   CURRENT BIOLOGY

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

(2012) Dinu Antony et al.   HUMAN MUTATION

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Yeast two-hybrid screening of proteins interacting with plasmin receptor subunit: C-terminal fragment of annexin A2

(2011) Qun Li et al.   ACTA PHARMACOLOGICA SINICA

Left–right asymmetry in the level of active Nodal protein produced in the node is translated into left–right asymmetry in the lateral plate of mouse embryos

(2011) Aiko Kawasumi et al.   DEVELOPMENTAL BIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Nodal Inhibitor Coco Is a Critical Target of Leftward Flow in Xenopus

(2010) Axel Schweickert et al.   CURRENT BIOLOGY

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

FGF signalling during embryo development regulates cilia length in diverse epithelia

(2009) Judith M. Neugebauer et al.   NATURE

Annexin A2 at the interface between F-actin and membranes enriched in phosphatidylinositol 4,5,-bisphosphate

(2008) Matthew J. Hayes et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH