A. Wallace

发表

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

A. Howell, D. Eccles, E. Harkness, 2020, Journal of Medical Genetics.

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

R. Ramsden, S. Holder, C. Rustad, 2012, American journal of medical genetics. Part A.

A standardized framework for the validation and verification of clinical molecular genetic tests

Andrew Wallace, Els Dequeker, Anniek Corveleyn, 2010, European Journal of Human Genetics.

Multiplex ligation‐dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders

L. Mosekilde, K. Brixen, L. Heickendorff, 2009, Clinical endocrinology.

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2

L. Bolund, D. Vetrie, I. Ernberg, 2005, Human mutation.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

D. Evans, S. Huson, R. Ramsden, 2007, Journal of Medical Genetics.

Multi-maintenance olaparib therapy in relapsed, germline BRCA1/2-mutant high-grade serous ovarian cancer (MOLTO): a phase II trial.

G. Jayson, C. Dive, G. Burghel, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

Is the spectrum of mutations in Indian patients with cystic fibrosis different?

M. Kabra, I. Verma, M. Ghosh, 2000, American journal of medical genetics.

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2003, Journal of medical genetics.

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2002, Neurology.

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)

Yinshan Zhao, G. Rouleau, G. Rouleau, 2002, Genetic epidemiology.

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.

Re‐evaluation of missense variant classifications in NF2

L. Messiaen, A. Wallace, N. Roberts, 2022, Human mutation.

BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?

G. Jayson, F. Lalloo, G. Burghel, 2022, British Journal of Cancer.

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

D. Evans, A. King, M. Baser, 2005, Journal of Medical Genetics.

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

D Pinkel, S. Pulst, D. Pinkel, 2001, Human molecular genetics.

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

D. Evans, T. Strachan, A. Wallace, 1998, Journal of medical genetics.

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas

D. Evans, W. Newman, S. Rutherford, 2010, Oncogene.

Schwannomatosis: a genetic and epidemiological study

D. Evans, D. Halliday, M. Kellett, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

D. Evans, R. Ramsden, M. Baser, 2004, American journal of human genetics.

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

S. Purcell, D. Evans, R. Ramsden, 2003, Journal of medical genetics.

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

D. Evans, A. Wallace, R. Elles, 2004, Genetic testing.

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

David Evans, D. Evans, A. Shaw, 2015, Journal of Medical Genetics.

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

David Evans, D. Evans, A. Wallace, 2014, Cancer genetics.

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

S. Huson, R. Ramsden, A. Wallace, 2007, Clinical genetics.

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas

D. Evans, A. Read, R. Ramsden, 2002, Journal of medical genetics.

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis.

D. Evans, T. Strachan, R. Ramsden, 1998, American journal of human genetics.

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

D. Evans, D. Buchanan, F. Lalloo, 2014, Journal of Medical Genetics.

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

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

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

R T Ramsden, D. Evans, T. Strachan, 1999, Journal of neurology, neurosurgery, and psychiatry.

Empirical development of improved diagnostic criteria for neurofibromatosis 2

D. Evans, R. Ramsden, A. Shenton, 2011, Genetics in Medicine.

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

David Evans, A. Shaw, D. Halliday, 2015, Journal of Medical Genetics.

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

D. Evans, W. Newman, F. Lalloo, 2016, European Journal of Human Genetics.

Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families

A. Shenton, F. Lalloo, A. Wallace, 2008, Clinical genetics.