Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2020-04-16
DOI
10.1093/hmg/ddaa073
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started