K. Szymanska

发表

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, T. Gibson, M. Huynen, 2019, PloS one.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Colin A. Johnson, J. Al-Aama, S. Mehrotra, 2018, Nature Communications.

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

Deposited in DRO : 25 October 2018 Version of attached le : Published Version Peer-review status of attached

Colin A. Johnson, J. Al-Aama, S. Mehrotra, 2018 .

Molecular genetics and cell biology of ciliopathies

K. Szymanska, 2015 .

Colin A. Johnson, P. Choyke, I. Glass, 2009, The Journal of pediatrics.

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, Robin van der Lee, T. Gibson, 2017, bioRxiv.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

The transition zone: an essential functional compartment of cilia

Colin A. Johnson, K. Szymanska, 2012, Cilia.

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Paul M. Jenkins, Colin A. Johnson, R. Gibbs, 2012, Nature Medicine.

Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.

Colin A. Johnson, P. Robinson, A. High, 2013, Experimental cell research.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

Clinical application of monoclonal antibodies in targeted therapy

K. Szymanska, K. Walczak, Maciej Superson, 2020 .

TCTN3 mutations cause Mohr-Majewski syndrome.

Colin A. Johnson, A. Munnich, Y. Ville, 2012, American journal of human genetics.

Regulation of canonical Wnt signalling by the ciliopathy protein MKS 1 and the 1 E 2 ubiquitin-conjugating enzyme UBE 2 E 1 2 3

Colin A. Johnson, M. Ueffing, K. Boldt, 2022 .

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Colin A. Johnson, M. Huynen, S. Saunier, 2015, Nature Cell Biology.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017, Human molecular genetics.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Colin A. Johnson, C. Inglehearn, C. Toomes, 2013, Human molecular genetics.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

Colin A. Johnson, V. Hartill, G. Wheway, 2017, Front. Pediatr..

Lamp1 Increases the Efficiency of Lassa Virus Infection by Promoting Fusion in Less Acidic Endosomal Compartments

K. Szymanska, C. Hulseberg, J. White, 2018, mBio.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

Unraveling the genetics of Joubert and Meckel-Gruber syndromes

Colin A. Johnson, V. Hartill, K. Szymanska, 2014, Journal of Pediatric Genetics.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Colin A. Johnson, N. Katsanis, F. Alkuraya, 2014, American journal of human genetics.

Proceedings of the Second International Cilia in Development and Disease Scientific Conference

R. Roepman, N. Sorusch, U. Wolfrum, 2015 .

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Colin A. Johnson, C. Logan, H. Lindsay, 2012, Cilia.

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Colin A. Johnson, D. Bonthron, A. Markham, 2009, Human mutation.

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

Colin A. Johnson, K. Gull, A. Noegel, 2009, Journal of Cell Science.

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis

Colin A. Johnson, B. W. van Balkom, R. Giles, 2015, Journal of Cell Science.

A meckelin-filamin A interaction mediates ciliogenesis.

Colin A. Johnson, S. Cross, K. Gull, 2012, Human molecular genetics.

University of Dundee DNAAF 1 links heart laterality with the AAA + ATPase RUVBL 1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017 .

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Colin A. Johnson, H. Brittain, C. Inglehearn, 2021, Journal of Medical Genetics.

Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1

Colin A. Johnson, M. Ueffing, K. Boldt, 2020, bioRxiv.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Regulation of canonical Wnt signalling by ciliary protein MKS1 and Ubiquitin Proteasome System component UBE2E1

Colin A. Johnson, M. Ueffing, K. Boldt, 2020 .

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

R. Roepman, N. Sorusch, U. Wolfrum, 2015, Cilia.

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Colin A. Johnson, M. Ueffing, K. Boldt, 2022, European journal of human genetics : EJHG.

TP53 and EGFR mutations in combination with lifestyle risk factors in tumours of the upper aerodigestive tract from South America.

P. Hainaut, P. Brennan, P. Boffetta, 2010, Carcinogenesis.

Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure

J. Bond, G. Wheway, K. Szymanska, 2023, Annals of human genetics.

Colin A. Johnson, P. Choyke, I. Glass, 2009, The Journal of pediatrics.