L. Bradley

发表

Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

M. Korbonits, S. Akker, H. Storr, 2014, The Journal of clinical endocrinology and metabolism.

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.

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.

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

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

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

D. Balding, Mark George Thomas, S. Ellard, 2016, Human mutation.

Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.

A. Green, N. Cody, T. McDevitt, 2017, Cancer genetics.

Giants of the British Isles

P. Morrison, L. Bradley, 2011, Ulster medical journal.

The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia.

A. Green, L. Bradley, J. Coleman, 2023, Blood cells, molecules & diseases.

The cost of rejection: an internal audit of the clinical genetics service active triage pathway at CHI Crumlin, Ireland

S. Lynch, L. Bradley, Karl Kavanagh, 2023, Irish journal of medical science.

Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?

S. Lynch, L. Bradley, 2020, Journal of Community Genetics.