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Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2861, doi. 10.1093/brain/awac478
By:
- Sadler, Katherine V;
- Bowes, John;
- Rowlands, Charlie F;
- Perez-Becerril, Cristina;
- Meer, C Mwee van der;
- King, Andrew T;
- Rutherford, Scott A;
- Pathmanaban, Omar N;
- Hammerbeck-Ward, Charlotte;
- Lloyd, Simon K W;
- Freeman, Simon R;
- Williams, Ricky;
- Hannan, Cathal John;
- Lewis, Daniel;
- Eyre, Steve;
- Evans, D Gareth;
- Smith, Miriam J
Publication type:
Article
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
Published in:
Journal of Pathology, 2014, v. 234, n. 4, p. 436, doi. 10.1002/path.4427
By:
- Smith, Miriam J;
- Wallace, Andrew J;
- Bennett, Chris;
- Hasselblatt, Martin;
- Elert‐Dobkowska, Ewelina;
- Evans, Linton T;
- Hickey, William F;
- van Hoff, Jack;
- Bauer, David;
- Lee, Amy;
- Hevner, Robert F;
- Beetz, Christian;
- du Plessis, Daniel;
- Kilday, John‐Paul;
- Newman, William G;
- Evans, D Gareth
Publication type:
Article
The Impact of Equine Therapy and an Audio-Visual Approach Emphasizing Rhythm and Beat Perception in Children with Developmental Coordination Disorder.
Published in:
Journal of Alternative & Complementary Medicine, 2019, v. 25, n. 5, p. 535, doi. 10.1089/acm.2017.0242
By:
- Hession, Caren E.;
- Law Smith, Miriam J.;
- Watterson, David;
- Oxley, Nigel;
- Murphy, Barbara A.
Publication type:
Article
The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 561, doi. 10.1002/ajmg.a.61970
By:
- Shoakazemi, Alireza;
- Hewitt, Alan;
- Smith, Miriam J.;
- Plessis, Daniel;
- Thomas, Owen;
- Stivaros, Stavros M.;
- Deniz, Kenan;
- Hammerbeck‐ward, Charlotte;
- Rutherford, Scott A.;
- King, Andrew Thomas;
- Evans, D. Gareth
Publication type:
Article
From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1098, doi. 10.1002/ajmg.a.61112
By:
- Ferner, Rosalie E.;
- Bakker, Annette;
- Elgersma, Ype;
- Evans, D. Gareth R.;
- Giovannini, Marco;
- Legius, Eric;
- Lloyd, Alison;
- Messiaen, Ludwine M.;
- Plotkin, Scott;
- Reilly, Karlyne M.;
- Schindeler, Aaron;
- Smith, Miriam J.;
- Ullrich, Nicole J.;
- Widemann, Brigitte;
- Sherman, Larry S.
Publication type:
Article
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Published in:
2013
By:
- Plotkin, Scott R.;
- Blakeley, Jaishri O.;
- Evans, D. Gareth;
- Hanemann, C. Oliver;
- Hulsebos, Theo J.M.;
- Hunter‐Schaedle, Kim;
- Kalpana, Ganjam V.;
- Korf, Bruce;
- Messiaen, Ludwine;
- Papi, Laura;
- Ratner, Nancy;
- Sherman, Larry S.;
- Smith, Miriam J.;
- Stemmer‐Rachamimov, Anat O.;
- Vitte, Jeremie;
- Giovannini, Marco
Publication type:
Other
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 215, doi. 10.1002/ajmg.a.34376
By:
- Smith, Miriam J.;
- Kulkarni, Anjana;
- Rustad, Cecilie;
- Bowers, Naomi L.;
- Wallace, Andrew J.;
- Holder, Susan E.;
- Heiberg, Arvid;
- Ramsden, Richard T.;
- Evans, D. Gareth
Publication type:
Article
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
Published in:
Nature Genetics, 2013, v. 45, n. 3, p. 295, doi. 10.1038/ng.2552
By:
- Smith, Miriam J;
- O'Sullivan, James;
- Bhaskar, Sanjeev S;
- Hadfield, Kristen D;
- Poke, Gemma;
- Caird, John;
- Sharif, Saba;
- Eccles, Diana;
- Fitzpatrick, David;
- Rawluk, Daniel;
- du Plessis, Daniel;
- Newman, William G;
- Evans, D Gareth
Publication type:
Article
Characterization of Age-Dependent and Progressive Cortical Neuronal Degeneration in Presenilin Conditional Mutant Mice.
Published in:
PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010195
By:
- Wines-Samuelson, Mary;
- Schulte, Eva C.;
- Smith, Miriam J.;
- Chiye Aoki;
- Xinran Liu;
- Kelleher, III, Raymond J.;
- Jie Shen
Publication type:
Article
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
Published in:
Cancers, 2021, v. 13, n. 16, p. 4154, doi. 10.3390/cancers13164154
By:
- Evans, D. Gareth;
- van Veen, Elke M.;
- Woodward, Emma R.;
- Harkness, Elaine F.;
- Ellingford, Jamie M.;
- Bowers, Naomi L.;
- Wallace, Andrew J.;
- Howell, Sacha J.;
- Howell, Anthony;
- Lalloo, Fiona;
- Newman, William G.;
- Smith, Miriam J.
Publication type:
Article
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.
Published in:
Cancers, 2020, v. 12, n. 2, p. 378, doi. 10.3390/cancers12020378
By:
- Hyder, Zerin;
- Harkness, Elaine F.;
- Woodward, Emma R.;
- Bowers, Naomi L.;
- Pereira, Marta;
- Wallace, Andrew J.;
- Howell, Sacha J.;
- Howell, Anthony;
- Lalloo, Fiona;
- Newman, William G.;
- Smith, Miriam J.;
- Evans, D Gareth
Publication type:
Article
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 5, p. 708, doi. 10.1038/ejhg.2014.167
By:
- Yasar, Binnaz;
- Byers, Helen J;
- Smith, Miriam J;
- Lear, John;
- Oudit, Deemesh;
- Bholah, Zaynab;
- Roberts, Stephen A;
- Newman, William G;
- Evans, D Gareth
Publication type:
Article
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
Published in:
2019
By:
- Evans, D. Gareth;
- Wallace, Andrew J.;
- Hartley, Claire;
- Freeman, Simon R.;
- Lloyd, Simon K.;
- Thomas, Owen;
- Axon, Patrick;
- Hammerbeck‐Ward, Charlotte L.;
- Pathmanaban, Omar;
- Rutherford, Scott A.;
- Kellett, Mark;
- Laitt, Roger;
- King, Andrew T.;
- Bischetsrieder, Jemma;
- Blakeley, Jaishri;
- Smith, Miriam J.;
- Hammerbeck-Ward, Charlotte L
Publication type:
journal article
High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
Published in:
2012
By:
- Smith, Miriam J.;
- Gifford, Franchesca L.;
- Lalloo, Fiona;
- Newman, William G.;
- Evans, D. Gareth R.
Publication type:
Letter
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
Published in:
JAMA Neurology, 2017, v. 74, n. 9, p. 1123, doi. 10.1001/jamaneurol.2017.1406
By:
- Pathmanaban, Omar N.;
- Sadler, Katherine V.;
- Kamaly-Asl, Ian D.;
- King, Andrew T.;
- Rutherford, Scott A.;
- Hammerbeck-Ward, Charlotte;
- McCabe, Martin G.;
- Kilday, John-Paul;
- Beetz, Christian;
- Poplawski, Nicola K.;
- Evans, D. Gareth;
- Smith, Miriam J.
Publication type:
Article
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.
Published in:
Neuro-Oncology, 2021, v. 23, n. 7, p. 1113, doi. 10.1093/neuonc/noaa284
By:
- Forde, Claire;
- King, Andrew T;
- Rutherford, Scott A;
- Hammerbeck-Ward, Charlotte;
- Lloyd, Simon K;
- Freeman, Simon R;
- Pathmanaban, Omar N;
- Stapleton, Emma;
- Thomas, Owen M;
- Laitt, Roger D;
- Stivaros, Stavros;
- Kilday, John-Paul;
- Vassallo, Grace;
- McBain, Catherine;
- Kerrigan, Simon;
- Smith, Miriam J;
- McCabe, Martin G;
- Harkness, Elaine F;
- Evans, D Gareth
Publication type:
Article
SMARCE1 mutation screening in classification of clear cell meningiomas.
Published in:
Histopathology, 2017, v. 70, n. 5, p. 814, doi. 10.1111/his.13135
By:
- Smith, Miriam J;
- Ahn, Soomin;
- Lee, Jung‐Il;
- Bulman, Michael;
- Plessis, Daniel du;
- Suh, Yeon‐Lim
Publication type:
Article
Dominant‐negative pathogenic variant BRIP1 c.1045G>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 48, doi. 10.1111/cge.14068
By:
- Flaum, Nicola;
- van Veen, Elke M.;
- Smith, Olivia;
- Amico, Stephanie;
- Newman, William G.;
- Crosbie, Emma J.;
- Edmondson, Richard;
- Smith, Miriam J.;
- Evans, D. Gareth
Publication type:
Article
A deep intronic SMARCB1 variant associated with schwannomatosis.
Published in:
Clinical Genetics, 2020, v. 97, n. 2, p. 376, doi. 10.1111/cge.13637
By:
- Smith, Miriam J.;
- Bowers, Naomi L.;
- Banks, Catherine;
- Coates‐Brown, Rosanna;
- Morris, Katrina A.;
- Ewans, Lisa;
- Wilson, Meredith;
- Pinner, Jason;
- Bhaskar, Sanjeev S.;
- Cammarata‐Scalisi, Francisco;
- Wallace, Andrew J.;
- Evans, Daffyd Gareth R.
Publication type:
Article
Epithelial ovarian cancer risk: A review of the current genetic landscape.
Published in:
Clinical Genetics, 2020, v. 97, n. 1, p. 54, doi. 10.1111/cge.13566
By:
- Flaum, Nicola;
- Crosbie, Emma J.;
- Edmondson, Richard J.;
- Smith, Miriam J.;
- Evans, Dafydd G.
Publication type:
Article
Rapid reversal of clinical down‐classification of a BRCA1 splicing variant avoiding psychological harm.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 532, doi. 10.1111/cge.13488
By:
- Burghel, George J.;
- Banks, Catherine;
- Wallace, Andrew J.;
- Smith, Miriam J.;
- Woodward, Emma R.;
- Evans, D. Gareth;
- Morgan, Robert D.;
- Turnbull, Clare
Publication type:
Article
The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.
Published in:
Neuro-Oncology Advances, 2023, v. 5, p. i94, doi. 10.1093/noajnl/vdac127
By:
- Gregory, Grace E.;
- Islim, Abdurrahman I.;
- Hannan, Cathal John;
- Jones, Adam P.;
- Hammerbeck-Ward, Charlotte;
- Rutherford, Scott A.;
- Freeman, Simon R.;
- Lloyd, Simon;
- Kalamarides, Michel;
- Smith, Miriam J.;
- Couper, Kevin;
- McBain, Catherine A.;
- Jenkinson, Michael D.;
- Brough, David;
- King, Andrew T.;
- Evans, D. Gareth;
- Pathmanaban, Omar N.
Publication type:
Article
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 24, p. 5239, doi. 10.1093/hmg/dds370
By:
- Smith, Miriam J.;
- Walker, James A.;
- Shen, Yiping;
- Stemmer-Rachamimov, Anat;
- Gusella, James F.;
- Plotkin, Scott R.
Publication type:
Article
A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma.
Published in:
2022
By:
- Paterson, Chay;
- Bozic, Ivana;
- Smith, Miriam J.;
- Hoad, Xanthe;
- Evans, D. Gareth R.
Publication type:
journal article
Is Priesthood an Adaptive Strategy?
Published in:
Human Nature, 2006, v. 17, n. 4, p. 393, doi. 10.1007/s12110-006-1002-2
By:
- Deady, Denis K.;
- Smith, Miriam J. Law;
- Kent, J. P.;
- Dunbar, R. I. M.
Publication type:
Article
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161.
Published in:
2023
By:
- Smith, Miriam J;
- Woodward, Emma R;
- Evans, D Gareth
Publication type:
Case Study
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
Published in:
Familial Cancer, 2022, v. 21, n. 3, p. 343, doi. 10.1007/s10689-021-00269-7
By:
- Smith, Miriam J.;
- Evans, D. Gareth
Publication type:
Article
Extended gene panel testing in lobular breast cancer.
Published in:
Familial Cancer, 2022, v. 21, n. 2, p. 129, doi. 10.1007/s10689-021-00241-5
By:
- van Veen, Elke M.;
- Evans, D. Gareth;
- Harkness, Elaine F.;
- Byers, Helen J.;
- Ellingford, Jamie M.;
- Woodward, Emma R.;
- Bowers, Naomi L.;
- Wallace, Andrew J.;
- Howell, Sacha J.;
- Howell, Anthony;
- Lalloo, Fiona;
- Newman, William G.;
- Smith, Miriam J.
Publication type:
Article
Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant.
Published in:
Familial Cancer, 2019, v. 18, n. 4, p. 445, doi. 10.1007/s10689-019-00138-4
By:
- Eelloo, Judith A.;
- Smith, Miriam J.;
- Bowers, Naomi L.;
- Ealing, John;
- Hulse, Paul;
- Wylie, James P.;
- Shenjere, Patrick;
- Clarke, Noel W.;
- Soh, Calvin;
- Whitehouse, Richard W.;
- Jones, Mark;
- Duff, Christopher;
- Freemont, Anthony;
- Gareth Evans, D.
Publication type:
Article
Screening of potential novel candidate genes in schwannomatosis patients.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1368, doi. 10.1002/humu.24424
By:
- Perez‐Becerril, Cristina;
- Wallace, Andrew J.;
- Schlecht, Helene;
- Bowers, Naomi L.;
- Smith, Philip T.;
- Gokhale, Carolyn;
- Eaton, Helen;
- Charlton, Chris;
- Robinson, Rachel;
- Charlton, Ruth S.;
- Evans, D. Gareth;
- Smith, Miriam J.
Publication type:
Article
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population.
Published in:
Human Mutation, 2022, v. 43, n. 7, p. 919, doi. 10.1002/humu.24376
By:
- Deng, Fanxuan;
- Evans, D. Gareth;
- Smith, Miriam J.
Publication type:
Article
Re‐evaluation of missense variant classifications in NF2.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 643, doi. 10.1002/humu.24370
By:
- Sadler, Katherine V.;
- Rowlands, Charlie F.;
- Smith, Philip T.;
- Hartley, Claire L.;
- Bowers, Naomi L.;
- Roberts, Nicola Y.;
- Harris, Jade L.;
- Wallace, Andrew J.;
- Evans, D. Gareth;
- Messiaen, Ludwine M.;
- Smith, Miriam J.
Publication type:
Article
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Published in:
Human Mutation, 2021, v. 42, n. 10, p. 1187, doi. 10.1002/humu.24261
By:
- Perez‐Becerril, Cristina;
- Evans, D. Gareth;
- Smith, Miriam J.
Publication type:
Article
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Published in:
Human Mutation, 2016, v. 37, n. 3, p. 250, doi. 10.1002/humu.22938
By:
- Smith, Miriam J.;
- Urquhart, Jill E.;
- Harkness, Elaine F.;
- Miles, Emma K.;
- Bowers, Naomi L.;
- Byers, Helen J.;
- Bulman, Michael;
- Gokhale, Carolyn;
- Wallace, Andrew J.;
- Newman, William G.;
- Evans, D. Gareth
Publication type:
Article
Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients.
Published in:
Oncologist, 2012, v. 17, n. 10, p. 1317, doi. 10.1634/theoncologist.2012-0162
By:
- Merker, Vanessa L.;
- Esparza, Sonia;
- Smith, Miriam J.;
- Stemmer-Rachamimov, Anat;
- Plotkin, Scott R.
Publication type:
Article
A Novel <bold><italic>PTCH1 </italic></bold>Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.
Published in:
Cytogenetic & Genome Research, 2018, v. 154, n. 2, p. 57, doi. 10.1159/000487747
By:
- Durmaz, Ceren D.;
- Evans, Gareth;
- Smith, Miriam J.;
- Ertop, Pelin;
- Akay, Bengü N.;
- Tuncalı, Timur
Publication type:
Article
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Published in:
2021
By:
- Whiffin, Nicola;
- Karczewski, Konrad J.;
- Zhang, Xiaolei;
- Chothani, Sonia;
- Smith, Miriam J.;
- Evans, D. Gareth;
- Roberts, Angharad M.;
- Quaife, Nicholas M.;
- Schafer, Sebastian;
- Rackham, Owen;
- Alföldi, Jessica;
- O'Donnell-Luria, Anne H.;
- Francioli, Laurent C.;
- Genome Aggregation Database Production Team;
- Armean, Irina M.;
- Banks, Eric;
- Bergelson, Louis;
- Cibulskis, Kristian;
- Collins, Ryan L.;
- Connolly, Kristen M.
Publication type:
Correction Notice
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-10717-9
By:
- Whiffin, Nicola;
- Karczewski, Konrad J.;
- Zhang, Xiaolei;
- Chothani, Sonia;
- Smith, Miriam J.;
- Evans, D. Gareth;
- Roberts, Angharad M.;
- Quaife, Nicholas M.;
- Schafer, Sebastian;
- Rackham, Owen;
- Alföldi, Jessica;
- O'Donnell-Luria, Anne H.;
- Francioli, Laurent C.;
- Genome Aggregation Database Production Team;
- Armean, Irina M.;
- Banks, Eric;
- Bergelson, Louis;
- Cibulskis, Kristian;
- Collins, Ryan L.;
- Connolly, Kristen M.
Publication type:
Article

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