C. Logan

发表

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

Colin A. Johnson, C. Logan, Zakia Abdel-Hamed, 2011, Molecular Neurobiology.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Colin A. Johnson, G. Mardon, G. Fishman, 2012, Nature Genetics.

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.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Colin A. Johnson, Martin W. Breuss, P. Gaffney, 2020, Neuron.

Characterizing the morbid genome of ciliopathies

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

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Colin A. Johnson, S. Jacobson, Rebecca K. Chance, 2009, American journal of human genetics.

Edinburgh Research Explorer Pol Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

G. Stamp, S. Boulton, Jennifer Svendsen, 2018 .

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.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature 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 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

D. Bonthron, T. Wieland, T. Strom, 2015, Journal of Medical Genetics.

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

N. Elçioglu, M. McKibbin, C. Inglehearn, 2022, Molecular vision.

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Colin A. Johnson, G. Taylor, M. Barron, 2012, American journal of human genetics.

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

Colin A. Johnson, Christopher H Ferguson, C. Inglehearn, 2013, American journal of human genetics.

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Colin A. Johnson, A. Harada, C. Inglehearn, 2016, American journal of human genetics.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

Colin A. Johnson, C. Inglehearn, A. Acevedo, 2015, BMC Medical Genetics.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

C. Logan, A. Jackson, M. Bober, 2018, American journal of medical genetics. Part A.

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Colin A. Johnson, A. Markham, M. Mohamed, 2011, Investigative ophthalmology & visual science.

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Colin A. Johnson, G. Taylor, M. Mohamed, 2011, Human molecular genetics.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Characterizing the morbid genome of ciliopathies

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

Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis

G. Stamp, S. Boulton, Jennifer Svendsen, 2018, Molecular cell.

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.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

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

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Colin A. Johnson, D. Bonthron, C. Stumpel, 2013, American journal of human genetics.

Mutations in TJP2 cause progressive cholestatic liver disease

Colin A. Johnson, Richard J. Thompson, Joshua D. Smith, 2014, Nature Genetics.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Colin A. Johnson, S. Antonarakis, N. Matsumoto, 2016, American journal of human genetics.

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes.

Colin A. Johnson, C. Logan, D. Parry, 2015, The Journal of allergy and clinical immunology.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Colin A. Johnson, S. Nelson, B. Merriman, 2011, Nature Genetics.

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Colin A. Johnson, K. Prescott, G. Cook, 2016, The Journal of allergy and clinical immunology.

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

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

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

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

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

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.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

A meckelin-filamin A interaction mediates ciliogenesis.

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

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke

C. Sudlow, H. Markus, C. Logan, 2017, Wellcome open research.

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 .

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Colin A. Johnson, G. Taylor, M. McKibbin, 2014, PloS one.

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

Colin A. Johnson, C. Logan, M. Adams, 2008, Journal of Medical Genetics.

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes.

Colin A. Johnson, C. Logan, D. Parry, 2015, The Journal of allergy and clinical immunology.

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

D. Bonthron, G. Taylor, A. Markham, 2011, Genomics.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

C. Logan, J. Cossins, S. Jayawant, 2015, American journal of human genetics.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.