D. Donnelly

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

The Community Adaptability Tool - guide : A guide to using the Community Adaptability Tool to secure the wealth and wellbeing of rural communities

A. Hogan, D. Carson, R. Tanton, 2014 .

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.

Advances in the genetics of familial renal cancer.

A. Maxwell, A. Atkinson, P. Morrison, 2010, The oncologist.

QRICH1 mutations cause a chondrodysplasia with developmental delay

J. Baron, J. Lui, D. Donnelly, 2018, Clinical genetics.

How common is tuberous sclerosis complex?

P. Morrison, D. Donnelly, 2016, The British journal of dermatology.

Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

S. McKee, P. Morrison, D. Donnelly, 2012, The oncologist.

Familial urothelial cell carcinoma of the bladder with autosomal dominant inheritance and late onset phenotype

P. Morrison, D. Donnelly, M. Loughrey, 2014, SpringerPlus.

Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events.

D. Kwiatkowski, P. Morrison, I. Malinowska, 2012, The oncologist.

Towards establishing consistency in triage in a tertiary specialty

M. Porteous, S. Lynch, D. Donnelly, 2019, European Journal of Human Genetics.

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.

Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms

J. Baptista, M. Widlansky, M. Kurian, 2022, Life Science Alliance.

The clinical spectrum of the m.10191T>C mutation in complex I‐deficient Leigh syndrome

Robert W. Taylor, E. Crushell, P. Morrison, 2012, Developmental medicine and child neurology.

Incidence of Fragile X syndrome in Ireland

D. Barton, S. Lynch, D. Donnelly, 2017, American journal of medical genetics. Part A.

Familial pediatric endocrine tumors.

P. Morrison, D. Donnelly, L. Bradley, 2011, The oncologist.

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.

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.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome

Z. Stark, S. Sadedin, M. Balasubramanian, 2017, American journal of medical genetics. Part A.

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.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017, Investigative ophthalmology & visual science.

Explorer Novel PEX 11 B Mutations Extend the Peroxisome Biogenesis Disorder 14 B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017 .

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.

L. Møller, P. Morrison, D. Donnelly, 2013, Molecular genetics and metabolism.

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

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

Epidemiology, clinical features, and genetics of multiple endocrine neoplasia type 2B in a complete population.

P. Morrison, D. Donnelly, A. Znaczko, 2014, The oncologist.

Umbilical pigmentation in Peutz–Jeghers syndrome

P. Morrison, D. Donnelly, Peter T. Morrison, 2014, Clinical dysmorphology.

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.

Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq

S. McKee, D. Donnelly, M. Humphreys, 2011, Clinical dysmorphology.

The prevalence of pica in tuberous sclerosis complex

P. Morrison, D. Donnelly, C. Shepherd, 2015, SpringerPlus.

The prevalence of pica in tuberous sclerosis

Neill, O. Tara, P. Morrison, 2015 .

Clinical Genetics and Genetic Counseling

S. McKee, P. Morrison, D. Donnelly, 2012 .

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

H. Stewart, J. Morton, S. Lynch, 2023, European Journal of Human Genetics.

Hereditary Gigantism-the biblical giant Goliath and his brothers

P. Morrison, D. Donnelly, 2014, The Ulster medical journal.

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.

Cerebral Cavernous Malformations : four families illustrating phenotypic diversity with implications for counselling and management

R. Sciot, T. Dabir, D. Donnelly, 2022 .