M. Smith

发表

Sporadic vestibular schwannoma: a molecular testing summary

Philip Smith, D. Evans, A. Shaw, 2020, Journal of Medical Genetics.

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults

D. Evans, M. McCabe, J. Kilday, 2017, JAMA neurology.

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

Clayton K. Collings, V. Ramesh, W. Bi, 2022, Nature Genetics.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population

D. Evans, M. Smith, Fanxuan Deng, 2022, Human mutation.

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

R. Hevner, W. Hickey, J. Kilday, 2014, The Journal of pathology.

First evidence of genotype–phenotype correlations in Gorlin syndrome

D. Evans, W. Newman, J. Lear, 2017, Journal of Medical Genetics.

Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women.

A. Lophatananon, Deborah J. Thompson, J. Dennis, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants

M. Kellett, C. Heal, S. Rutherford, 2022, European Journal of Human Genetics.

GRIF-1 and OIP106, Members of a Novel Gene Family of Coiled-Coil Domain Proteins

F. Stephenson, K. Brickley, M. Smith, 2005, Journal of Biological Chemistry.

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

Karlyne M. Reilly, A. Lloyd, D. Evans, 2019, American journal of medical genetics. Part A.

Screening of potential novel candidate genes in schwannomatosis patients

A. Wallace, R. Charlton, C. Gokhale, 2022, Human mutation.

Mapping the GRIF-1 Binding Domain of the Kinesin, KIF5C, Substantiates a Role for GRIF-1 as an Adaptor Protein in the Anterograde Trafficking of Cargoes*

K. Pozo, F. Stephenson, K. Brickley, 2006, Journal of Biological Chemistry.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

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

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

D. Evans, D. Halliday, S. Huson, 2011, Journal of Medical Genetics.

High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.

F. Lalloo, E. Crosbie, D. Evans, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

D. Evans, S. Rutherford, A. Wallace, 2017, Neurology.

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.

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.

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

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

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Yiping Shen, J. Gusella, A. Stemmer-Rachamimov, 2012, Human molecular genetics.

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

D. Evans, D. Halliday, M. Kellett, 2019, Genetics in Medicine.

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene

D. Evans, M. Kellett, S. Rutherford, 2018, The Laryngoscope.

Schwannomatosis: a genetic and epidemiological study

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

Update from the 2013 international neurofibromatosis conference

Michael Fisher, A. Lloyd, A. Stemmer-Rachamimov, 2014, American journal of medical genetics. Part A.

Pain correlates with germline mutation in schwannomatosis how this access benefits you. Your story matters

M. Talkowski, V. Ramesh, J. Jordan, 2018 .

Intronic splicing mutations in PTCH1 cause Gorlin syndrome

D. Evans, W. Newman, E. Miles, 2014, Familial Cancer.

Clinical features of schwannomatosis: a retrospective analysis of 87 patients.

A. Stemmer-Rachamimov, S. Plotkin, V. Merker, 2012, The oncologist.

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.

Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

S. Eyre, Z. Miedzybrodzka, J. Lear, 2022, The British journal of dermatology.

Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution.

D. Evans, M. McCabe, E. Harkness, 2020, Neuro-oncology.

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

D. Evans, W. Newman, S. Roberts, 2014, European Journal of Human Genetics.

Characterization of Age-Dependent and Progressive Cortical Neuronal Degeneration in Presenilin Conditional Mutant Mice

Xinran Liu, R. J. Kelleher, C. Aoki, 2010, PloS one.

Indirect Regulation of Presenilins in CREB-mediated Transcription*

R. J. Kelleher, Jie Shen, V. Beglopoulos, 2009, Journal of Biological Chemistry.

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Sandeep Kumar Dhanda, S. Pfister, P. Vahteristo, 2022, Journal of Medical Genetics.

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

B. N. Akay, C. Durmaz, T. Tuncalı, 2018, Cytogenetic and Genome Research.

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

A. Howell, W. Newman, E. Harkness, 2021, Genetics in Medicine.

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes

D. Gareth Evans, M. Smith, C. Perez-Becerril, 2021, Human mutation.

Epithelial ovarian cancer risk: A review of the current genetic landscape

D. G. Evans, E. Crosbie, R. Edmondson, 2019, Clinical genetics.

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

A. Howell, D. Evans, E. Harkness, 2021, Cancers.

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

A. Howell, E. Harkness, F. Lalloo, 2022, Journal of Medical Genetics.

A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma

I. Bozic, D. Evans, X. Hoad, 2021, bioRxiv.

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

A. Stemmer-Rachamimov, B. Korf, D. Evans, 2013, American journal of medical genetics. Part A.

Identification, Molecular Cloning, and Characterization of a Novel GABAA Receptor-associated Protein, GRIF-1*

Seema Sharma, P. Chazot, F. Stephenson, 2002, The Journal of Biological Chemistry.

Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study

D. Evans, E. Crosbie, R. Edmondson, 2021, Clinical genetics.

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

D. Eccles, D. Evans, W. Newman, 2013, Nature Genetics.

Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors

D. Evans, P. Crosbie, E. Crosbie, 2020, Journal of Medical Genetics.

Intronic splicing mutations in PTCH1 cause Gorlin syndrome

D. Evans, W. Newman, E. Miles, 2014, Familial Cancer.

Pain correlates with germline mutation in schwannomatosis

S. Erdin, J. Gusella, W. Cai, 2018, Medicine.

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

D. Evans, W. Newman, S. Bhaskar, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Germline and somatic mutations in meningiomas.

M. Smith, 2015, Cancer genetics.

The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges

D. G. Evans, N. Bobola, F. Roncaroli, 2020, Oncogene.

SMARCE1 mutation screening in classification of clear cell meningiomas

Jung-Il Lee, Y. Suh, Soomin Ahn, 2017, Histopathology.

Molecular Genetics of Meningioma

M. Smith, 2016 .

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

Javier Santoyo-Lopez, D. Eccles, W. Newman, 2018, American journal of human genetics.

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

D. Evans, D. Halliday, M. Kellett, 2018, Genetics in Medicine.

Loss of SUFU function in familial multiple meningioma.

Anssi Auvinen, Jussi Taipale, Yilong Li, 2012, American journal of human genetics.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition Syndromes

S. Rutherford, A. Wallace, S. Lloyd, 2022, Neurosurgery.

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

E. Harkness, E. Miles, A. Wallace, 2016, Human mutation.

The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study

D. Evans, S. Rutherford, D. du Plessis, 2020, American journal of medical genetics. Part A.

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer

A. Howell, D. Evans, W. Newman, 2020, Cancers.

Re‐evaluation of missense variant classifications in NF2

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

Cranial Meningioma in Neurofi bromatosis Type 2 Patients: Role of Mutations

Miriam J. Smith, D. Gareth, R. Evans, 2014 .

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

R. Whitehouse, N. Clarke, A. Freemont, 2019, Familial Cancer.

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

Javier Santoyo-Lopez, D. Eccles, D. Evans, 2018, bioRxiv.

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case

D. Evans, A. Kelsey, J. Kilday, 2015, Child's Nervous System.

SMARCE1 mutations in pediatric clear cell meningioma: case report.

D. Evans, W. Newman, W. Hickey, 2015, Journal of neurosurgery. Pediatrics.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

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

Association between genetic polymorphisms and endometrial cancer risk: a systematic review

A. Lophatananon, Deborah J. Thompson, D. Evans, 2020, Journal of Medical Genetics.

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition

D. Evans, M. Smith, D. Evans, 2021, Familial cancer.

Extended gene panel testing in lobular breast cancer

A. Howell, D. Evans, W. Newman, 2021, Familial Cancer.

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis.

W. Cai, G. Harris, A. Muzikansky, 2013, Clinical biochemistry.

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation

G. Burghel, M. Smith, D. Evans, 2023, Journal of Medical Genetics.

A deep intronic SMARCB1 variant associated with schwannomatosis

S. Bhaskar, Meredith Wilson, A. Wallace, 2020, Clinical genetics.

A novel c.885+1G>A splicing variant in exon 9 of the NF2 gene shows a delayed mild presentation with a predilection for spinal ependymomas

S. Rutherford, D. G. Evans, A. Feria, 2019 .

Yeast two-hybrid studies

Miriam J. Smith, Karine Pozo, F. A. Stephenson, 2007 .

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

D. Evans, W. Newman, F. Lalloo, 2012, Breast Cancer Research and Treatment.

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

S. Eyre, W. Newman, Z. Miedzybrodzka, 2022, medRxiv.

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21

S. Eyre, J. Bowes, S. Rutherford, 2022, Brain : a journal of neurology.

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

W. Foulkes, L. Messiaen, D. Stevenson, 2021, Genetics in Medicine.

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

L. Kluwe, S. Plotkin, M. Maccollin, 2008, Clinical 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.

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

D. Evans, J. Fock, E. Hoving, 2016, neurogenetics.

Sarcoma in neurofibromatosis 2

A. Freemont, M. Kalamarides, A. Wallace, 2017 .

The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis

D. Brough, S. Rutherford, D. G. Evans, 2023, Neuro-oncology advances.

Indirect Regulation of Presenilins in CREB-mediated Transcription*

R. J. Kelleher, Jie Shen, V. Beglopoulos, 2009, Journal of Biological Chemistry.

SMARCB1 mutations are not a common cause of multiple meningiomas

D. Evans, W. Newman, D. Trump, 2010, Journal of Medical Genetics.

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161

E. Woodward, M. Smith, D. Evans, 2023, Familial Cancer.

Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis

G. Burghel, M. Smith, C. Perez-Becerril, 2024, Journal of Medical Genetics.

Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis.

W. Cai, G. Harris, A. Muzikansky, 2013, Clinical biochemistry.

Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer

E. Harkness, F. Lalloo, G. Burghel, 2023, Journal of Medical Genetics.