D. Bourn

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

AGRICULTURAL INTENSIFICATION IN SUB-SAHARAN AFRICA

W. Wint, D. Bourn, 1999 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

M. Digilio, B. Dallapiccola, A. Novelli, 2019, European journal of medical genetics.

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

M. Santibanez-Koref, J. Burn, P. Brennan, 2019, Journal of the American Academy of Dermatology.

Livestock and land-use surveys in Sub-Saharan Africa

W. Wint, D. Bourn, 1994 .

LIVESTOCK , LAND USE AND AGRICULTURAL INTENSIFICATION IN SUB-SAHARAN AFRICA

W. Wint, D. Bourn, 1999 .

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

D. Evans, T. Strachan, J. Goodship, 1994, American journal of human genetics.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

Diagnostic issues in a family with late onset type 2 neurofibromatosis.

D. Evans, T. Strachan, R. Ramsden, 1995, Journal of medical genetics.

H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes.

B. Turner, D. Bourn, J. Waters, 1999, Human molecular genetics.

Chromosomal assignment of a large tRNA gene cluster (tRNALeu, tRNAGln, tRNALys, tRNAArg, tRNAGly) to 17p13.1

D. Ledbetter, J. Connor, D. Bourn, 1991, Human Genetics.

Is CFTR-delF508 Really Absent from the Apical Membrane of the Airway Epithelium?

B. Verdon, D. Bourn, L. Borthwick, 2011, PloS one.

Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis.

S. Ball, D. Bourn, H. Lambert, 2009, European journal of endocrinology.

RECONCILING INTERESTS AMONG WILDLIFE, LIVESTOCK AND PEOPLE IN EASTERN AFRICA: A SUSTAINABLE LIVELIHOODS APPROACH

C. Boyd, R. Blench, D. Bourn, 1999 .

The biomass, production and carrying capacity of giant tortoises on Aldabra

I. Swingland, M. Coe, D. Bourn, 1979 .

The rise and fall of the Aldabran giant tortoise population

Dave M. Augeri, S. Hay, D. Bourn, 1999, Proceedings of the Royal Society of London. Series B: Biological Sciences.

Features of tortoise mortality and decomposition on Aldabra

M. Coe, D. Bourn, 1979 .

Environmental change and the autonomous control of tsetse and trypanosomosis in sub-Saharan Africa: case histories from Ethiopia, The Gambia, Kenya, Nigeria and Zimbabwe.

D. Rogers, R. Reid, W. Wint, 2001 .

ABCA12 is the major harlequin ichthyosis gene.

D. Kelsell, E. Sprecher, A. Slavotinek, 2006, The Journal of investigative dermatology.

An intron-containing tRNAArg gene within a large cluster of human tRNA genes.

D. Bourn, J. Goddard, A. McLaren, 1994, DNA sequence : the journal of DNA sequencing and mapping.

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.

THE SIZE, STRUCTURE AND DISTRIBUTION OF THE GIANT TORTOISE POPULATION OF ALDABRA

M. Coe, D. Bourn, 1978 .

Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

P. Hammond, J. Goodship, D. Fitzpatrick, 2017, American journal of medical genetics. Part A.

Quantitative Assessment of Mixed Chimerism in Allogeneic Stem Cell Transplant Patients: A Comparison of Molecular Genetic and Cytogenetic Approaches

A. Gennery, D. Bourn, N. Bown, 2007, Journal of pediatric hematology/oncology.

The feeding of three commercially important fish species in Lake Chilwa, Malawi

D. Bourn, 1974 .

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

T. Strachan, D. Bourn, D. Gareth, 1994, Human molecular genetics.

Cattle movements and bovine tuberculosis in Great Britain

M. Gilbert, M. Gilbert, A. Mitchell, 2005, Nature.

Mapping bovine tuberculosis in Great Britain using environmental data.

Timothy P Robinson, Simon I Hay, S. Hay, 2002, Trends in microbiology.

Tsetse control, agricultural expansion and environmental change in Nigeria

D. Bourn, 1983 .

Cheap and safe tsetse control for livestock production and mixed farming in Africa

Chatham Maritime, Stephen J. Torr, David Bourn, 2005 .

Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene

M. Jackson, J. Goodship, J. Venables, 2006, PLoS medicine.

Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

G. Kokai, D. Bourn, M. Wright, 2013, Journal of Clinical Immunology.

The successful use of work oxen in agricultural development of tsetse infested land in Ethiopia

Michael Scott, D. Bourn, 1978, Tropical Animal Health and Production.

Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology

Sarah J. Johnson, P. Perros, D. Bourn, 2014, Cytopathology : official journal of the British Society for Clinical Cytology.

Eleven novel mutations in the NF2 tumour suppressor gene

T. Strachan, D. Bourn, S. Tekeş, 1995, Human Genetics.

Incidence and outcomes for adults diagnosed with acute myeloid leukemia in the north of England: a real world study

D. Bourn, N. Bown, P. Mounter, 2016, Leukemia & lymphoma.

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.

CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas

D. Bourn, V. Wilson, A. Dubois, 2015, PLoS currents.

The Genomic Landscape Of Lineage Switch Acute Leukemia

A. Hall, J. Allan, R. Marschalek, 2013 .

The Giant Tortoise Population of Aldabra (Cryptodira: Testudinidae)

D. Bourn, 1976 .

Giant tortoise and vegetation interactions on Aldabra atoll—Part 2: Coastal

D. Bourn, S. Woodell, R. Hnatiuk, 1976 .

Giant tortoise and vegetation interactions on aldabra atoll—Part 1: Inland

R. J. Hnatiuk, D. Bourn, L.F.H. Merton, 1976 .

CCD detection of lux‐marked Pseudomonas syringae pv. phaseolicola L‐forms associated with Chinese cabbage and the resulting disease protection against Xanthomonas campestris

L. A. Glover, H. Buhariwalla, R. N. Waterhouse, 1996 .

Reproductive study of Giant tortoises on Aldabra

D. Bourn, 2009 .

AN APPRAISAL OF PASTORAL PRODUCTION POTENTIAL IN RELATION TO CONTINUED INTERVENTIONS BY THE ERETO NGORONGORO PASTORALIST PROJECT

D. Bourn, 2002 .

The social and economic implications of trypanosomiasis control. A study of its impact on livestock production and rural development in Northern Nigeria.

P. Ellis, R. Shaw, D. Bourn, 1980 .

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.

Tsetse, trypanosomiasis and cattle in a changing environment

W. Wint, D. Bourn, K. Milligan, 1986 .

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records

A. Antoniou, D. Eccles, C. Turnbull, 2022, Journal of Medical Genetics.

Basic techniques in molecular genetics

D. Bourn, A. Broomfield, 1998, The Journal of Laryngology & Otology.

Principles of molecular genetics

D. Bourn, K. Hampson, 1998, The Journal of Laryngology & Otology.

Cattle, rainfall and tsetse in Africa.

D. Bourn, 1978 .

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

Daniel S. Poon, B. Conrad, D. Kelsell, 2013, The Journal of investigative dermatology.