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Global genetic analysis in mice unveils central role for cilia in congenital heart disease
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/uog.904openalex-snapshot
Prenatal diagnosis of cardiosplenic syndromes: a 10‐year experience
inferredcites →https://doi.org/10.1007/bf00794186openalex-snapshot
Incidence of congenital heart disease: II. Prenatal incidence
inferredcites →https://doi.org/10.1007/bf00801907openalex-snapshot
Incidence of congenital heart disease: I. Postnatal incidence
inferredcites →https://doi.org/10.1007/s00335-013-9494-7openalex-snapshot
Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis
inferredcites →https://doi.org/10.1016/j.amjcard.2005.09.119openalex-snapshot
Spectrum of Cardiovascular Disease, Accuracy of Diagnosis, and Outcome in Fetal Heterotaxy Syndrome
inferredcites →https://doi.org/10.1016/j.bbrc.2009.03.113openalex-snapshot
The polycystic kidney disease-related proteins Bicc1 and SamCystin interact
inferredcites →https://doi.org/10.1016/j.cell.2011.04.019openalex-snapshot
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
inferredcites →https://doi.org/10.1016/j.celrep.2013.05.020openalex-snapshot
TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium
inferredcites →https://doi.org/10.1016/j.jpeds.2008.05.059openalex-snapshot
Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005
inferredcites →https://doi.org/10.1016/s0002-9149(98)00574-8openalex-snapshot
Diagnosis of heterotaxy syndrome by fetal echocardiography
inferredcites →https://doi.org/10.1016/s0735-1097(02)01886-7openalex-snapshot
The incidence of congenital heart disease
inferredcites →https://doi.org/10.1016/s1097-2765(00)00127-1openalex-snapshot
A Brg1 Null Mutation in the Mouse Reveals Functional Differences among Mammalian SWI/SNF Complexes
inferredcites →https://doi.org/10.1038/nature12141openalex-snapshot
De novo mutations in histone-modifying genes in congenital heart disease
inferredcites →https://doi.org/10.1038/ncb1966openalex-snapshot
The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development
inferredcites →https://doi.org/10.1038/ncb2888openalex-snapshot
The roles of evolutionarily conserved functional modules in cilia-related trafficking
inferredcites →https://doi.org/10.1038/ng.2681openalex-snapshot
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
inferredcites →https://doi.org/10.1038/ng847openalex-snapshot
A gene-driven approach to the identification of ENU mutants in the mouse
inferredcites →https://doi.org/10.1038/nrm2278openalex-snapshot
When cilia go bad: cilia defects and ciliopathies
inferredcites →https://doi.org/10.1073/pnas.95.13.7485openalex-snapshot
A phenotype-based screen for embryonic lethal mutations in the mouse
inferredcites →https://doi.org/10.1083/jcb.200107108openalex-snapshot
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
inferredcites →https://doi.org/10.1091/mbc.e08-08-0805openalex-snapshot
Polarized Traffic of LRP1 Involves AP1B and SNX17 Operating on Y-dependent Sorting Motifs in Different Pathways
inferredcites →https://doi.org/10.1093/bioinformatics/bti551openalex-snapshot
BiNGO: a Cytoscape plugin to assess overrepresentation of Gene Ontology categories in Biological Networks
inferredcites →https://doi.org/10.1097/gim.0b013e3181a53562openalex-snapshot
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
inferredcites →https://doi.org/10.1136/hrt.82.1.34openalex-snapshot
Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study
inferredcites →https://doi.org/10.1152/physiolgenomics.00129.2005openalex-snapshot
Cardiovascular phenotyping of fetal mice by noninvasive high-frequency ultrasound facilitates recovery of ENU-induced mutations causing congenital cardiac and extracardiac defects
inferredcites →https://doi.org/10.1161/circimaging.113.000279openalex-snapshot
Microcomputed Tomography Provides High Accuracy Congenital Heart Disease Diagnosis in Neonatal and Fetal Mice
inferredcites →https://doi.org/10.1161/circimaging.113.000451openalex-snapshot
Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen
inferredcites →https://doi.org/10.1161/circulationaha.109.857987openalex-snapshot
Recurrence of Congenital Heart Defects in Families
inferredcites →https://doi.org/10.1172/jci33284openalex-snapshot
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia
inferredcites →https://doi.org/10.1172/jci4786openalex-snapshot
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry.
inferredcites →https://doi.org/10.1242/dev.02384openalex-snapshot
The left-right axis in the mouse: from origin to morphology
inferredcites →https://doi.org/10.1513/pats.201103-025sdopenalex-snapshot
Spectrum of Clinical Diseases Caused By Disorders of Primary Cilia
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4797658openalex-extracted
Primary Cilia Confer TGFβ1-Dependent Resistance in Rat Cardiac Fibroblasts after X-Ray Injury
inferred← citeshttps://doi.org/10.1002/ajmg.a.62093openalex-snapshot
A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease
inferred← citeshttps://doi.org/10.1002/ajmg.a.62586openalex-snapshot
Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies
inferred← citeshttps://doi.org/10.1002/ajmg.a.62762openalex-snapshot
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
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Left–right patterning in congenital heart disease beyond heterotaxy
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Rare copy number variants in patients with congenital conotruncal heart defects
inferred← citeshttps://doi.org/10.1002/cbf.70102openalex-snapshot
Primary Cilia: Hub of Cell Signal Transduction and Emerging Role in Digestive System Tumorigenesis
inferred← citeshttps://doi.org/10.1002/cm.21789openalex-snapshot
Inherently disordered regions of axonemal dynein assembly factors
inferred← citeshttps://doi.org/10.1002/dvdy.24394openalex-snapshot
LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease
inferred← citeshttps://doi.org/10.1002/dvdy.24524openalex-snapshot
A role for primary cilia in aortic valve development and disease
inferred← citeshttps://doi.org/10.1002/dvdy.24564openalex-snapshot
Mutations in the Katnb1 gene cause left–right asymmetry and heart defects
inferred← citeshttps://doi.org/10.1002/dvg.22874openalex-snapshot
Mouse Genome Database: From sequence to phenotypes and disease models
inferred← citeshttps://doi.org/10.1002/dvg.23414openalex-snapshot
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes
inferred← citeshttps://doi.org/10.1002/gepi.22533openalex-snapshot
A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects
inferred← citeshttps://doi.org/10.1002/gepi.70010openalex-snapshot
Genome‐Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS
inferred← citeshttps://doi.org/10.1002/jbmr.4428openalex-snapshot
Chondrocyte Polarity During Endochondral Ossification Requires Protein–Protein Interactions Between Prickle1 and Dishevelled2/3
inferred← citeshttps://doi.org/10.1002/jcp.30689openalex-snapshot
Ciliary dynein arms: Cytoplasmic preassembly, intraflagellar transport, and axonemal docking
inferred← citeshttps://doi.org/10.1002/jgm.3461openalex-snapshot
X‐linked BCOR variants identified in Chinese Han patients with congenital heart disease
inferred← citeshttps://doi.org/10.1002/mgg3.1944openalex-snapshot
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
inferred← citeshttps://doi.org/10.1002/mrm.29814openalex-snapshot
Physics‐informed deep learning for T2 ‐deblurred superresolution turbo spin echo MRI
inferred← citeshttps://doi.org/10.1002/ppul.24959openalex-snapshot
Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations
inferred← citeshttps://doi.org/10.1007/978-3-030-42937-9_9-1openalex-snapshot
The Role of Genetics in Development of Congenital Heart Disease
inferred← citeshttps://doi.org/10.1007/978-3-030-52719-8_119openalex-snapshot
Nephronophthisis and Related Ciliopathies
inferred← citeshttps://doi.org/10.1007/978-3-030-63164-2_13openalex-snapshot
Exploitation of Vascular Mechanobiology for Therapy Innovations
inferred← citeshttps://doi.org/10.1007/978-3-030-67947-7_10openalex-snapshot
Genetics of Mitral Valve Disease
inferred← citeshttps://doi.org/10.1007/978-3-030-85536-9_10openalex-snapshot
Sequelae of Genetic Defects in Cardiomyocytes
inferred← citeshttps://doi.org/10.1007/978-3-031-07563-6_9openalex-snapshot
The Role of Genetics in Development of Congenital Heart Disease
inferred← citeshttps://doi.org/10.1007/978-3-031-21547-6_4openalex-snapshot
Cholesterol and Phosphoinositides in Cilia Biology
inferred← citeshttps://doi.org/10.1007/978-3-031-23965-6_2openalex-snapshot
Mechanotransduction in Heart Development
inferred← citeshttps://doi.org/10.1007/978-3-031-44087-8_43openalex-snapshot
Molecular Pathways and Animal Models of Defects in Situs
inferred← citeshttps://doi.org/10.1007/978-3-031-44087-8_61openalex-snapshot
Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-319-31828-8_15openalex-snapshot
Sensing and Remembering Cellular States Through Chromatin
inferred← citeshttps://doi.org/10.1007/978-3-319-69620-1_13openalex-snapshot
Pulmonary Complications of Heterotaxy Syndromes
inferred← citeshttps://doi.org/10.1007/978-3-642-27843-3_119-1openalex-snapshot
Nephronophthisis and Related Ciliopathies
inferred← citeshttps://doi.org/10.1007/978-3-7091-1883-2_39openalex-snapshot
Molecular Pathways and Animal Models of Defects of Situs
inferred← citeshttps://doi.org/10.1007/978-4-431-54628-3_8openalex-snapshot
Role of Cilia and Left-Right Patterning in Congenital Heart Disease
inferred← citeshttps://doi.org/10.1007/978-981-19-5642-3_4openalex-snapshot
Genome Editing and Myocardial Development
inferred← citeshttps://doi.org/10.1007/s00018-016-2369-9openalex-snapshot
Mechanisms of ciliogenesis suppression in dividing cells
inferred← citeshttps://doi.org/10.1007/s00018-020-03633-5openalex-snapshot
Motile cilia genetics and cell biology: big results from little mice
inferred← citeshttps://doi.org/10.1007/s00109-021-02112-zopenalex-snapshot
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
inferred← citeshttps://doi.org/10.1007/s00246-016-1547-8openalex-snapshot
HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot
inferred← citeshttps://doi.org/10.1007/s00335-015-9589-4openalex-snapshot
Mouse Genome Informatics (MGI): reflecting on 25 years
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The International Mouse Strain Resource (IMSR): cataloging worldwide mouse and ES cell line resources
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The second heart field: the first 20 years
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Standardisation and future of preclinical echocardiography
inferred← citeshttps://doi.org/10.1007/s00401-022-02463-yopenalex-snapshot
Flow blockage disrupts cilia-driven fluid transport in the epileptic brain
inferred← citeshttps://doi.org/10.1007/s00429-026-03098-5openalex-snapshot
Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis
inferred← citeshttps://doi.org/10.1007/s00439-015-1623-9openalex-snapshot
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
inferred← citeshttps://doi.org/10.1007/s00439-021-02426-5openalex-snapshot
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
inferred← citeshttps://doi.org/10.1007/s00439-024-02703-zopenalex-snapshot
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
inferred← citeshttps://doi.org/10.1007/s00467-026-07454-9openalex-snapshot
Screening of pediatric patients with congenital anomalies of the kidney and urinary tract for associated congenital heart disease in a tertiary care setting
inferred← citeshttps://doi.org/10.1007/s10237-020-01413-5openalex-snapshot
Effect of left atrial ligation-driven altered inflow hemodynamics on embryonic heart development: clues for prenatal progression of hypoplastic left heart syndrome
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A Common Missense Variant in OMA1 Associated with the Prognosis of Heart Failure
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Molecular genetics of congenital heart disease
inferred← citeshttps://doi.org/10.1007/s11684-023-1042-6openalex-snapshot
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans
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The Role of Left-Right Asymmetry in Congenital Heart Defects: Taking the Right Turn
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The Heart from Every Angle: Recent Approaches To Modeling Congenital Heart Disease
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Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease
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An Interspecies Heart-to-Heart: Using Xenopus to Uncover the Genetic Basis of Congenital Heart Disease
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The Informatics of Developmental Phenotypes
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Human Cardiac Transcription Factor Networks
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Genetic approaches to axonemal dynein function in Chlamydomonas and other organisms
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Landmark contributions of Chlamydomonas to understanding cilia
inferred← citeshttps://doi.org/10.1016/b978-0-323-44887-1.00071-7openalex-snapshot
Primary Ciliary Dyskinesia
inferred← citeshttps://doi.org/10.1016/b978-0-443-11851-7.00082-3openalex-snapshot
Neurodevelopmental and Psychosocial Outcomes in Children and Young Adults With Complex Congenital Cardiac Disease
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Establishment of a double blood circulation in the developing mouse heart
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Whole-Organism Cellular Pathology
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Modeling Syndromic Congenital Heart Defects in Zebrafish
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Mouse mutagenesis and phenotyping to generate models of development and disease
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Genetics and etiology of congenital heart disease
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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
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CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
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Development of a polycaprolactone/poly(p-dioxanone) bioresorbable stent with mechanically self-reinforced structure for congenital heart disease treatment
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Transcription factor protein interactomes reveal genetic determinants in heart disease
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PDE2 at the crossway between cAMP and cGMP signalling in the heart
inferred← citeshttps://doi.org/10.1016/j.celrep.2019.07.025openalex-snapshot
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
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Intraflagellar Transport Complex B Proteins Regulate the Hippo Effector Yap1 during Cardiogenesis
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Systems analysis of de novo mutations in congenital heart diseases identified a protein network in the hypoplastic left heart syndrome
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Therapeutic Targeting of LRP6 in Cardiovascular Diseases: Challenging But Not Wnt-Possible!
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Cilia structure and function in human disease
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From genes to therapy: A comprehensive exploration of congenital heart disease through the lens of genetics and emerging technologies
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Cilia: Organelles at the Heart of Heart Disease
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WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation
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Pericentrin Knocks Down Cilia in Trisomy 21
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Ubiquitin Tunes Hedgehog in Matters of the Heart
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Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development
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Inhibition of intraflagellar transport protein-88 promotes epithelial-to-mesenchymal transition and reduces cardiac remodeling post-myocardial infarction
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AP2B1, a protein involved in endocytic trafficking, is associated with congenital heart defects when mutated
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Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis
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CASZ1 loss-of-function mutation associated with congenital heart disease
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Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of Fallot
inferred← citeshttps://doi.org/10.1016/j.gene.2022.146909openalex-snapshot
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot
inferred← citeshttps://doi.org/10.1016/j.gep.2019.119064openalex-snapshot
Hectd1 is essential for embryogenesis in mice
inferred← citeshttps://doi.org/10.1016/j.gim.2024.101231openalex-snapshot
Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations
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The evolving role of ankyrin-B in cardiovascular disease
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Identification of LBX2 as a novel causal gene of atrial septal defect
inferred← citeshttps://doi.org/10.1016/j.ijcard.2022.09.021openalex-snapshot
Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries
inferred← citeshttps://doi.org/10.1016/j.isci.2026.116533openalex-snapshot
ADAM and ADAMTS proteases as integrative hubs in heart failure pathogenesis and therapy
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Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects
inferred← citeshttps://doi.org/10.1016/j.jare.2026.02.021openalex-snapshot
Gestational low carbamoyl phosphate suppresses TET2-mediated DNA demethylation and induces congenital heart disease in offspring
inferred← citeshttps://doi.org/10.1016/j.jbc.2025.108249openalex-snapshot
A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development
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Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease
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Airway ciliary dysfunction: Association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients
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Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage
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Generation of a conditional Adamts6 mouse allele reveals roles in lung maturation in addition to cardiac and musculoskeletal development
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Transgenerational cardiology: One way to a baby's heart is through the mother
inferred← citeshttps://doi.org/10.1016/j.mod.2018.04.001openalex-snapshot
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development
inferred← citeshttps://doi.org/10.1016/j.mod.2020.103611openalex-snapshot
HYDIN loss-of-function inhibits GATA4 expression and enhances atrial septal defect risk
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A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks
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Cardiac repair by epicardial EMT: Current targets and a potential role for the primary cilium
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Limitations and opportunities in the pharmacotherapy of ciliopathies
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Abnormal labyrinthine zone in the Hectd1-null placenta
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Novel insights into the genetic landscape of congenital heart disease with systems genetics
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Establishing normative nasal nitric oxide values in infants
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Rare loss-of-function variants reveal threshold and multifactorial inheritance of dextrocardia
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Role of cilia in the pathogenesis of congenital heart disease
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Right, left and cilia: How asymmetry is established
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Microtubule Motors Drive Hedgehog Signaling in Primary Cilia
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Endosomal Retrieval of Cargo: Retromer Is Not Alone
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The ciliary impact of nonciliary gene mutations
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Editorial Commentary: Looking beyond the heart in adult congenital heart disease
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IFT–Cargo Interactions and Protein Transport in Cilia
inferred← citeshttps://doi.org/10.1016/j.xhgg.2020.100016openalex-snapshot
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
inferred← citeshttps://doi.org/10.1016/j.xhgg.2023.100258openalex-snapshot
Rare loss-of-function variants in matrisome genes are enriched in Ebstein’s anomaly
inferred← citeshttps://doi.org/10.1016/j.xhgg.2026.100580openalex-snapshot
Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene
inferred← citeshttps://doi.org/10.1016/j.ydbio.2015.10.030openalex-snapshot
An age of enlightenment for cilia: The FASEB summer research conference on the “Biology of Cilia and Flagella”
inferred← citeshttps://doi.org/10.1016/j.ydbio.2015.11.003openalex-snapshot
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus
inferred← citeshttps://doi.org/10.1016/j.ydbio.2018.07.024openalex-snapshot
The ciliary protein Rpgrip1l in development and disease
inferred← citeshttps://doi.org/10.1016/j.ydbio.2019.12.014openalex-snapshot
Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice
inferred← citeshttps://doi.org/10.1016/j.ydbio.2020.03.003openalex-snapshot
Desert hedgehog-primary cilia cross talk shapes mitral valve tissue by organizing smooth muscle actin
inferred← citeshttps://doi.org/10.1016/j.ydbio.2025.12.003openalex-snapshot
Genetic background influences the extent and severity of cilia-related congenital anomalies in Ift56/Ttc26 mutant mice
inferred← citeshttps://doi.org/10.1016/j.ynirp.2025.100293openalex-snapshot
Olfactory bulb volume and asymmetry as predictors of executive dysfunction in adolescents with congenital heart disease
inferred← citeshttps://doi.org/10.1017/s1047951115001122openalex-snapshot
Isomerism or heterotaxy: which term leads to better understanding?
inferred← citeshttps://doi.org/10.1021/acs.nanolett.8b04138openalex-snapshot
Personalized Nanotherapy by Specifically Targeting Cell Organelles To Improve Vascular Hypertension
inferred← citeshttps://doi.org/10.1021/acsnano.9b00033openalex-snapshot
Ciliotherapy: Remote Control of Primary Cilia Movement and Function by Magnetic Nanoparticles
inferred← citeshttps://doi.org/10.1038/gim.2016.167openalex-snapshot
Ciliopathy variant burden and developmental delay in children with hypoplastic left heart syndrome
inferred← citeshttps://doi.org/10.1038/ncomms11103openalex-snapshot
Genetic link between renal birth defects and congenital heart disease
inferred← citeshttps://doi.org/10.1038/ng.3376openalex-snapshot
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
inferred← citeshttps://doi.org/10.1038/ng.3410openalex-snapshot
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
inferred← citeshttps://doi.org/10.1038/ng.3558openalex-snapshot
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
inferred← citeshttps://doi.org/10.1038/ng.3627openalex-snapshot
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
inferred← citeshttps://doi.org/10.1038/ng.3870openalex-snapshot
The complex genetics of hypoplastic left heart syndrome
inferred← citeshttps://doi.org/10.1038/ng.3970openalex-snapshot
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
inferred← citeshttps://doi.org/10.1038/ng0816-970bopenalex-snapshot
Erratum: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
inferred← citeshttps://doi.org/10.1038/npjgenmed.2016.31openalex-snapshot
The importance of copy number variation in congenital heart disease
inferred← citeshttps://doi.org/10.1038/nrg.2016.118openalex-snapshot
Loss-of-function genetic tools for animal models: cross-species and cross-platform differences
inferred← citeshttps://doi.org/10.1038/nrm.2017.60openalex-snapshot
Genes and molecular pathways underpinning ciliopathies
inferred← citeshttps://doi.org/10.1038/s10038-020-0793-zopenalex-snapshot
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways
inferred← citeshttps://doi.org/10.1038/s10038-022-01051-yopenalex-snapshot
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot
inferred← citeshttps://doi.org/10.1038/s10038-025-01351-zopenalex-snapshot
The prevalence of laterality defects in patients with congenital heart disease
inferred← citeshttps://doi.org/10.1038/s41392-025-02463-wopenalex-snapshot
Maternal cholesterol deficiency predisposes congenital heart defects risk
inferred← citeshttps://doi.org/10.1038/s41431-026-02023-yopenalex-snapshot
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
inferred← citeshttps://doi.org/10.1038/s41467-019-12582-yopenalex-snapshot
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
inferred← citeshttps://doi.org/10.1038/s41467-022-35691-7openalex-snapshot
Single-cell transcriptomic analysis identifies murine heart molecular features at embryonic and neonatal stages
inferred← citeshttps://doi.org/10.1038/s41467-024-53791-4openalex-snapshot
Live imaging of airway epithelium reveals that mucociliary clearance modulates SARS-CoV-2 spread
inferred← citeshttps://doi.org/10.1038/s41467-024-55741-6openalex-snapshot
Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease
inferred← citeshttps://doi.org/10.1038/s41467-025-61625-0openalex-snapshot
Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery
inferred← citeshttps://doi.org/10.1038/s41467-025-64070-1openalex-snapshot
Dissecting regulatory non-coding GWAS loci reveals fibroblast causal genes with pathophysiological relevance to heart failure
inferred← citeshttps://doi.org/10.1038/s41536-019-0067-6openalex-snapshot
Variable outcomes of human heart attack recapitulated in genetically diverse mice
inferred← citeshttps://doi.org/10.1038/s41569-021-00635-zopenalex-snapshot
A change of heart: new roles for cilia in cardiac development and disease
inferred← citeshttps://doi.org/10.1038/s41588-018-0054-7openalex-snapshot
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
inferred← citeshttps://doi.org/10.1038/s41598-018-30204-3openalex-snapshot
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease
inferred← citeshttps://doi.org/10.1038/s41598-019-43109-6openalex-snapshot
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome
inferred← citeshttps://doi.org/10.1038/s41598-021-84605-yopenalex-snapshot
Differential effect of anesthetics on mucociliary clearance in vivo in mice
inferred← citeshttps://doi.org/10.1038/s41598-025-08248-zopenalex-snapshot
Multiparity induces persistent myocardial structural, functional and transcriptomic remodelling in mice
inferred← citeshttps://doi.org/10.1038/s42003-018-0272-7openalex-snapshot
Pharmacological cholesterol depletion disturbs ciliogenesis and ciliary function in developing zebrafish
inferred← citeshttps://doi.org/10.1038/s42003-020-1035-9openalex-snapshot
Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening
inferred← citeshttps://doi.org/10.1038/s42003-026-10353-2openalex-snapshot
Genetic drivers of congenital cardiac fibrosis
inferred← citeshttps://doi.org/10.1038/s44161-025-00755-6openalex-snapshot
A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects
inferred← citeshttps://doi.org/10.1038/s44276-024-00062-wopenalex-snapshot
Malignant peritoneal mesothelioma interactome with 417 novel protein–protein interactions
inferred← citeshttps://doi.org/10.1042/bst20253108openalex-snapshot
The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease
inferred← citeshttps://doi.org/10.1042/cs20160686openalex-snapshot
Genetic analysis of rare coding mutations of CELSR1–3 in congenital heart and neural tube defects in Chinese people
inferred← citeshttps://doi.org/10.1051/medsci/20163206007openalex-snapshot
Un gène codant une métalloprotéase impliqué dans l’hétérotaxie
inferred← citeshttps://doi.org/10.1053/j.ajkd.2023.08.019openalex-snapshot
Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype
inferred← citeshttps://doi.org/10.1063/5.0323602openalex-snapshot
Biomolecular and cellular chirality: Novel diagnostic perspectives for diseases
inferred← citeshttps://doi.org/10.1073/pnas.1802314115openalex-snapshot
High-resolution μCT of a mouse embryo using a compact laser-driven X-ray betatron source
inferred← citeshttps://doi.org/10.1073/pnas.1808341116openalex-snapshot
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
inferred← citeshttps://doi.org/10.1073/pnas.2218204121openalex-snapshot
An inherited life-threatening arrhythmia model established by screening randomly mutagenized mice
inferred← citeshttps://doi.org/10.1073/pnas.2318522121openalex-snapshot
Methylation of ciliary dynein motors involves the essential cytosolic assembly factor DNAAF3/PF22
inferred← citeshttps://doi.org/10.1073/pnas.2419992122openalex-snapshot
Recessive genetic contribution to congenital heart disease in 5,424 probands
inferred← citeshttps://doi.org/10.1073/pnas.2420961122openalex-snapshot
PSKH1 kinase activity is differentially modulated via allosteric binding of Ca 2+ sensor proteins
inferred← citeshttps://doi.org/10.1080/01913123.2017.1370050openalex-snapshot
Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy
inferred← citeshttps://doi.org/10.1080/14728222.2021.1978069openalex-snapshot
Hypoplastic left heart syndrome (HLHS): molecular pathogenesis and emerging drug targets for cardiac repair and regeneration
inferred← citeshttps://doi.org/10.1083/jcb.201507046openalex-snapshot
Ndel1 suppresses ciliogenesis in proliferating cells by regulating the trichoplein–Aurora A pathway
inferred← citeshttps://doi.org/10.1083/jcb.201604048openalex-snapshot
The small GTPase RSG1 controls a final step in primary cilia initiation
inferred← citeshttps://doi.org/10.1089/scd.2017.0054openalex-snapshot
Human Embryonic Stem Cell-Derived Cardiomyocytes Self-Arrange with Areas of Different Subtypes During Differentiation
inferred← citeshttps://doi.org/10.1091/mbc.e15-07-0474openalex-snapshot
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left–right asymmetry
inferred← citeshttps://doi.org/10.1091/mbc.e16-03-0191openalex-snapshot
The role of the dynein light intermediate chain in retrograde IFT and flagellar function inChlamydomonas
inferred← citeshttps://doi.org/10.1091/mbc.e20-03-0190openalex-snapshot
Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone
inferred← citeshttps://doi.org/10.1091/mbc.e21-05-0226openalex-snapshot
An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field
inferred← citeshttps://doi.org/10.1091/mbc.e25-02-0055openalex-snapshot
Phyloproteomics reveals conserved patterns of axonemal dynein methylation across the motile ciliated eukaryotes
inferred← citeshttps://doi.org/10.1091/mbc.e25-03-0116openalex-snapshot
Isoform-specific phosphorylation of axonemal dynein heavy chains
inferred← citeshttps://doi.org/10.1093/bib/bbx152openalex-snapshot
Construction of a hierarchical gene regulatory network centered around a transcription factor
inferred← citeshttps://doi.org/10.1093/cvr/cvaf108openalex-snapshot
Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve caused by loss of primary cilia
inferred← citeshttps://doi.org/10.1093/cvr/cvx155openalex-snapshot
Origins and consequences of congenital heart defects affecting the right ventricle
inferred← citeshttps://doi.org/10.1093/cvr/cvy061openalex-snapshot
Slit–Robo signalling in heart development
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