D. Parry

发表

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.

Null mutations in LTBP2 cause primary congenital glaucoma.

D. Mackey, Shaheen N. Khan, S. Riazuddin, 2009, American journal of human genetics.

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

Laura F. Dagley, A. Goris, K. Schroder, 2016, Science Translational Medicine.

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Ian M. Carr, Jennifer Kirkham, Michel Michaelides, 2009, American journal of human genetics.

Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation

C. Inglehearn, A. Mighell, R. Shore, 2009, Cells Tissues Organs.

Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

C. Inglehearn, A. Mighell, J. Kirkham, 2009 .

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Martin A. M. Reijns, J. Marsh, J. Rankin, 2020, Genes & development.

De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability

D. Fitzpatrick, Inês Cebola, Matías G De Vas, 2019 .

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

N. Cheshire, J. Elefteriades, C. Bicknell, 2018, Genetics in Medicine.

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Ricki S. Carroll, T. Niiler, C. Baker-Smith, 2021, Orphanet Journal of Rare Diseases.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

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.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

T. Molina, A. Fischer, S. Nejentsev, 2016, The Journal of allergy and clinical immunology.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

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.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

K. Heimdal, E. Jabs, H. Omran, 2022, medRxiv.

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation

M. Care, A. Gennery, L. Jardine, 2017, The Journal of allergy and clinical immunology.

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

R. MacLaren, P. Sergouniotis, A. Webster, 2012, Investigative ophthalmology & visual science.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

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

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

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.

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

C. Inglehearn, A. Mighell, J. Kirkham, 2014, Human molecular genetics.

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 Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

Hussain Jafri, Jennifer Kirkham, Mushtaq Ahmed, 2009, 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.

Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth

C. Inglehearn, A. Mighell, R. Shore, 2010, Cells Tissues Organs.

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.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

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.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

John Bradbury, Eamonn Sheridan, Rohit Shetty, 2013, American journal of human 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.

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.

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.

The role of primary cilia in the development and disease of the retina

Colin A. Johnson, G. Wheway, D. Parry, 2014, Organogenesis.

De novo variants in population constrained fetal brain enhancers and intellectual disability

D. Fitzpatrick, Inês Cebola, J. Ferrer, 2019, bioRxiv.

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.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Martin A. M. Reijns, Martin S. Taylor, Michael D. Nicholson, 2022, Nature.

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.

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.

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.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

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.

Follicular regulatory T cells eliminate HIV-1-infected follicular helper T cells in an IL-2 concentration dependent manner

M. McCarter, R. D’Aquila, E. Connick, 2022, Frontiers in Immunology.

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications

D. Parry, R. Doffinger, S. Savic, 2017, Front. Immunol..

A Case of SLC29A3 Spectrum Disorder—Unresponsive to Multiple Immunomodulatory Therapies

D. Parry, S. Savic, M. Goodfield, 2016, Journal of Clinical Immunology.

Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study

T. Molina, A. Fischer, S. Nejentsev, 2016 .

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.

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

N. Cheshire, J. Elefteriades, C. Bicknell, 2018, Genetics in Medicine.

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

D. Parry, G. Arumugakani, S. Savic, 2017, Journal of Clinical Immunology.

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma

G. Peters, D. Parry, D. Parry, 1996, Molecular and cellular biology.

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.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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