V. Mcconnell

发表

Neovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking

N. Orr, R. Hogg, C. Patterson, 2007, PLoS medicine.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.

A. Gennery, C. Marcocci, F. Cetani, 2008, The Journal of clinical endocrinology and metabolism.

Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED

A. Gennery, D. Denning, V. Mcconnell, 2008, Clinical and experimental immunology.

Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study

I. Ellis, S. Chin, C. Caldas, 2018, The lancet. Gastroenterology & hepatology.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

A. Fischer, R. Döffinger, C. Bodemer, 2010, The Journal of experimental medicine.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

A. Pagnamenta, A. Battaglia, D. Keays, 2015, Journal of Medical Genetics.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (vol 39, pg 1488, 2007)

Robert K. Yu, S. Shete, D. Milewicz, 2008 .

Iris Flocculi as an Ocular Marker of ACTA2 Mutation in Familial Thoracic Aortic Aneurysms and Dissections

C. Willoughby, V. Mcconnell, S. McGimpsey, 2015, Ophthalmic genetics.

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Robert K. Yu, S. Shete, D. Milewicz, 2007, Nature Genetics.

Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Robert K. Yu, S. Shete, D. Milewicz, 2008, Nature Genetics.

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Soo-Mi Park, H. Firth, Meredith Wilson, 2012, American journal of medical genetics. Part A.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon

S. Mansour, V. Mcconnell, P. Mortimer, 2018, International journal of molecular sciences.

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

M. Caulfield, A. Devereau, C. Shovlin, 2021, American journal of medical genetics. Part A.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

L. Pasquier, T. Dudding-Byth, C. Shoubridge, 2022, Clinical genetics.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

P. Morrison, V. Mcconnell, T. Brown, 2003, Clinical dysmorphology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

S. Scherer, B. Chung, C. Cytrynbaum, 2020, American journal of human genetics.

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

P. Morrison, V. Mcconnell, D. Donnelly, 2010, The Ulster medical journal.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Colorectal Cancer Risk Following Adenoma Removal: A Large Prospective Population-Based Cohort Study

A. Gavin, M. Shrubsole, L. Murray, 2015, Cancer Epidemiology, Biomarkers & Prevention.

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

V. Mcconnell, A. Donaldson, T. Lourenço, 2013, BMC Medical Genetics.

Mosaic monosomy 14: clinical features and recognizable facies

V. Mcconnell, R. Derham, D. McManus, 2004, Clinical dysmorphology.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Alex Henderson, Jing Yu, Alex Magee, 2017, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

A. Gennery, V. Mcconnell, P. Arkwright, 2008, Clinical and experimental immunology.

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

V. Mcconnell, M. Balasubramanian, Schaida Schirwani, 2019, Gene.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Soo-Mi Park, A. Antoniou, R. Lindsay, 2018, Journal of Medical Genetics.

Catalogue of inherited disorders found among the Irish Traveller population

J. Casey, A. Green, S. Ennis, 2018, Journal of Medical Genetics.

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome

P. Turnpenny, V. Mcconnell, D. Donnelly, 2011, Clinical dysmorphology.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

D. Baker, A. Brady, Diana S. Johnson, 2020, Genetics in Medicine.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Age-related macular degeneration.

V. Mcconnell, G. Silvestri, 2005, The Ulster medical journal.

A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.

M. Klein, G. Silvestri, A. Hughes, 2004, Molecular vision.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

A. Brady, Diana S. Johnson, V. Mcconnell, 2020, Genetics in Medicine.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.