|
| 35170427 | Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1. | Elife | 2022 |
| 35693420 | Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. | Mol Vis | 2022 |
| 33220177 | Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. | Neuron | 2021 |
| 30478443 | Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. | Nat Genet | 2019 |
| 29754823 | Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis. | Mol Cell | 2018 |
| 30503519 | DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. | Am J Hum Genet | 2018 |
| 30057030 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 30290151 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Am J Hum Genet | 2018 |
| 30193137 | Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. | Am J Hum Genet | 2018 |
| 29265708 | The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. | Am J Med Genet A | 2018 |
| 28191891 | Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. | Nat Genet | 2017 |
| 29100095 | Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. | Am J Hum Genet | 2017 |
| 29387804 | Rare variants of the 3'-5' DNA exonuclease <i>TREX1</i> in early onset small vessel stroke. | Wellcome Open Res | 2017 |
| 27693231 | Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. | Am J Hum Genet | 2016 |
| 27374770 | Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. | Am J Hum Genet | 2016 |
| 26996948 | Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. | Am J Hum Genet | 2016 |
| 26560041 | A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. | J Allergy Clin Immunol | 2016 |
| 27894351 | Characterizing the morbid genome of ciliopathies. | Genome Biol | 2016 |
| 26626625 | Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. | Am J Hum Genet | 2015 |
| 25928877 | Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. | BMC Med Genet | 2015 |
| 25794656 | A new case of Fas-associated death domain protein deficiency and update on treatment outcomes. | J Allergy Clin Immunol | 2015 |
| 26167768 | An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. | Nat Cell Biol | 2015 |
| 26424145 | HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. | Journal of Medical Genetics | 2015 |
| 24614073 | Mutations in TJP2 cause progressive cholestatic liver disease. | Nat Genet | 2014 |
| 24336167 | Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. | Nat Genet | 2014 |
| 25133751 | Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. | PLoS One | 2014 |
| 24705253 | De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. | Nat Genet | 2014 |
| 23375655 | Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. | Am J Hum Genet | 2013 |
| 24290375 | SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. | Am J Hum Genet | 2013 |
| 23554237 | Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. | Hum Mutat | 2013 |
| 22121117 | A meckelin-filamin A interaction mediates ciliogenesis. | Hum Mol Genet | 2012 |
| 22553128 | Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. | Hum Mutat | 2012 |
| 22842230 | Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. | Nat Genet | 2012 |
| 22282472 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | Science | 2012 |
| 22901946 | Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. | Am J Hum Genet | 2012 |
| 23434854 | Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. | Nephron Physiol | 2012 |
| 23351400 | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. | Cilia | 2012 |
| 22246503 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | Nat Genet | 2012 |
| 22068589 | Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. | Hum Mol Genet | 2012 |
| 21907015 | Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. | Am J Hum Genet | 2011 |
| 21258341 | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | Nat Genet | 2011 |
| 21474777 | Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity. | Invest Ophthalmol Vis Sci | 2011 |
| 21110233 | Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. | Mol Neurobiol | 2011 |
| 21885028 | Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. | Am J Hum Genet | 2011 |
| 21621601 | Illuminator, a desktop program for mutation detection using short-read clonal sequencing. | Genomics | 2011 |
| 22152675 | TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. | Am J Hum Genet | 2011 |
| 22101682 | Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). | Nat Genet | 2011 |
| 20512146 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | Nat Genet | 2010 |
| 19430481 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. | Nat Genet | 2009 |
| 19596800 | Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. | J Cell Sci | 2009 |