Miriam Jane Smith (Miriam J Smith, Miriam Smith)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 35

Top Venues

Journal of medical genetics

Human mutation

Brain : a journal of neurology

Clinical genetics

University of Manchester

University College London School of Pharmacy (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Manchester

United Kingdom

Senior Lecturer in Cancer Genomics :: Centre for Genomic Medicine

University of Manchester

United Kingdom

Lecturer in Cancer Genomics :: Centre for Genomic Medicine

University of Manchester

United Kingdom

Research Associate :: Centre for Genomic Medicine

Massachusetts General Hospital

United States

Postdoctoral Research Fellow :: Neurology

Brigham and Women's Hospital Center for Neurologic Diseases

United States

Postdoctoral Research Fellow

University College London School of Pharmacy

United Kingdom

Research Assistant :: Pharmaceutical and Biological Chemistry

Education History

University College London School of Pharmacy

United Kingdom

PHD :: Pharmaceutical and Biological Chemistry

University of Bath

United Kingdom

BSC

Publications

Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics 61 (5) (2024)
Dafydd Gareth Evans, Sacha J Howell, George Joseph Burghel, Claire Forde, Fiona Lalloo, Miriam Jane Smith, Anthony Howell, Ashu Gandhi, Emma Roisin Woodward
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years? Journal of medical genetics (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics (2024)
Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Miriam Jane Smith, Cristina Perez-Becerril, Mwee van der Meer, George Joseph Burghel, Sarah J Waller, Megan Carney, Sancha Bunstone, Katherine Fryer, Naomi L Bowers, Claire L Hartley, Philip T Smith, Scott A Rutherford, Simon R Freeman, Simon K W Lloyd, Omar N Pathmanaban, Andrew Thomas King, Dorothy Halliday, Chris Duff, D Gareth Evans
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis. Journal of medical genetics (2024)
Cristina Perez-Becerril, George Joseph Burghel, Claire Hartley, Charles F Rowlands, Dafydd Gareth Evans, Miriam Jane Smith
Improved sensitivity for detection of pathogenic variants in familial NF2 -related schwannomatosis. Journal of medical genetics 61 (5) (2024)
Dafydd Gareth Evans, George Joseph Burghel, Miriam Jane Smith
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation. Journal of medical genetics (2023)
Dafydd Gareth Evans, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer. Journal of medical genetics (2023)
Dafydd Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George Joseph Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers. Journal of medical genetics (2022)
Fanxuan Deng, Dafydd Gareth Evans, Miriam Jane Smith
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Human mutation 43 (7) (2022)
Katherine V Sadler, Charlie F Rowlands, Philip T Smith, Claire L Hartley, Naomi L Bowers, Nicola Y Roberts, Jade L Harris, Andrew J Wallace, Dafydd Gareth Evans, Ludwine M Messiaen, Miriam Jane Smith
Re-evaluation of missense variant classifications in NF2. Human mutation 43 (5) (2022)
Daniel Moualed, Jonathan Wong, Owen Thomas, Calvin Heal, Rukhtam Saqib, Cameron Choi, Simon Lloyd, Scott Rutherford, Emma Stapleton, Charlotte Hammerbeck-Ward, Omar Nathan Pathmanaban, Roger Laitt, Miriam Jane Smith, Andrew Wallace, Mark Kellett, Dafydd Gareth Evans, Andrew Thomas King, Simon R Freeman
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants. European journal of human genetics : EJHG 30 (4) (2022)
Cristina Perez-Becerril, Andrew J Wallace, Helene Schlecht, Naomi L Bowers, Philip T Smith, Carolyn Gokhale, Helen Eaton, Chris Charlton, Rachel Robinson, Ruth S Charlton, D Gareth Evans, Miriam Jane Smith
Screening of potential novel candidate genes in schwannomatosis patients. Human mutation 43 (10) (2022)
Katherine V Sadler, John David Bowes, Charlie F Rowlands, Cristina Perez-Becerril, C Mwee van der Meer, Andrew T King, Scott A Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon K W Lloyd, Simon R Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D Gareth Evans, Miriam Jane Smith
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21. Brain : a journal of neurology (2022)
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group. Journal of medical genetics (2022)
Roodolph St Pierre, Clayton K Collings, Daniel D Samé Guerra, Christian J Widmer, Olubusayo Bolonduro, Nazar Mashtalir, Akshay Sankar, Yu Liang, Wenya Linda Bi, Erica H Gerkes, Vijaya Ramesh, Jun Qi, Miriam Jane Smith, David M Meredith, Cigall Kadoch
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma. Nature genetics 54 (6) (2022)
Katherine V Sadler, John David Bowes, Charlie F Rowlands, Cristina Perez-Becerril, C Mwee van der Meer, Andrew T King, Scott A Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon K W Lloyd, Simon R Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D Gareth Evans, Miriam Jane Smith
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21. Brain : a journal of neurology (2022)
Katherine V Sadler, John David Bowes, Charlie F Rowlands, Cristina Perez-Becerril, C Mwee van der Meer, Andrew T King, Scott A Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon K W Lloyd, Simon R Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D Gareth Evans, Miriam Jane Smith
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21. Brain : a journal of neurology (2022)
Dafydd Gareth Evans, Elke Maria van Veen, Emma Roisin Woodward, Elaine F Harkness, Jamie M Ellingford, Naomi L Bowers, Andrew J Wallace, Sacha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability. Cancers 13 (16) (2021)
Cristina Perez-Becerril, Dafydd Gareth Evans, Miriam Jane Smith
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. Human mutation 42 (10) (2021)
Dafydd Gareth Evans, Elke Maria van Veen, Helen J Byers, Sarah J Evans, George Joseph Burghel, Emma Roisin Woodward, Elaine F Harkness, Diana M Eccles, Stephanie L Greville-Haygate, Jamie M Ellingford, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sasha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. Journal of medical genetics (2021)
Miriam Jane Smith, Dafydd Gareth Evans
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. Familial cancer (2021)
Nicola Flaum, Elke Maria van Veen, Olivia Smith, Stephanie Amico, William G Newman, Emma J Crosbie, Richard Edmondson, Miriam Jane Smith, D Gareth Evans
Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study. Clinical genetics 101 (1) (2021)
Elke Maria van Veen, Dafydd Gareth Evans, Elaine F Harkness, Helen J Byers, Jamie M Ellingford, Emma R Woodward, Naomi L Bowers, Andrew J Wallace, Sacha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith
Extended gene panel testing in lobular breast cancer. Familial cancer (2021)
D Gareth Evans, Ludwine M Messiaen, William D Foulkes, Rachel E A Irving, Alexandra J Murray, Cristina Perez-Becerril, Barbara Rivera, Donna M McDonald-McGinn, David A Stevenson, Miriam Jane Smith
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. Genetics in medicine : official journal of the American College of Medical Genetics 23 (9) (2021)
Mikey B Lebrett, Emma J Crosbie, Miriam Jane Smith, Emma Roisin Woodward, Dafydd Gareth Evans, Philip A J Crosbie
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors. Journal of medical genetics 58 (4) (2021)
Katherine V Sadler, Naomi L Bowers, Claire Hartley, Philip T Smith, Simon Tobi, Andrew J Wallace, Andrew King, Simon K W Lloyd, Scott Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon Freeman, Emma Stapleton, Amy Taylor, Adam Shaw, Dorothy Halliday, Miriam Jane Smith, Dafydd Gareth Evans
Sporadic vestibular schwannoma: a molecular testing summary. Journal of medical genetics 58 (4) (2020)
Zerin Hyder, Elaine F Harkness, Emma Roisin Woodward, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sacha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith, Dafydd Gareth Evans
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. Cancers 12 (2) (2020)
Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam Jane Smith, Neil Aj Ryan, Anie Naqvi, Dafydd Gareth Evans, Emma J Crosbie
Association between genetic polymorphisms and endometrial cancer risk: a systematic review. Journal of medical genetics 57 (9) (2020)
D Gareth Evans, Claire L Hartley, Philip T Smith, Andrew T King, Naomi L Bowers, Simon Tobi, Andrew J Wallace, Mary Perry, Raji Anup, Simon K W Lloyd, Scott A Rutherford, Charlotte Hammerbeck-Ward, Omar N Pathmanaban, Emma Stapleton, Simon R Freeman, Mark Kellett, Dorothy Halliday, Allyson Parry, Juliette J Gair, Patrick Axon, Roger Laitt, Owen Thomas, Shazia K Afridi, Rupert Obholzer, null null, Chris Duff, Stavros M Stivaros, Grace Vassallo, Elaine F Harkness, Miriam Jane Smith
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Nicola Flaum, Emma J Crosbie, Richard J Edmondson, Miriam Jane Smith, Dafydd G Evans
Epithelial ovarian cancer risk: A review of the current genetic landscape. Clinical genetics 97 (1) (2019)
Miriam Jane Smith, Naomi L Bowers, Catherine Banks, Rosanna Coates-Brown, Katrina A Morris, Lisa Ewans, Meredith Wilson, Jason Pinner, Sanjeev S Bhaskar, Francisco Cammarata-Scalisi, Andrew J Wallace, Daffyd Gareth R Evans
A deep intronic SMARCB1 variant associated with schwannomatosis. Clinical genetics 97 (2) (2019)
Miriam Jane Smith, Soomin Ahn, Jung-Il Lee, Michael Bulman, Daniel du Plessis, Yeon-Lim Suh
SMARCE1 mutation screening in classification of clear cell meningiomas. Histopathology 70 (5) (2017)

Miriam Jane Smith.css-eqlu8i{font-size:small;padding-left:4px;} (Miriam J Smith, Miriam Smith)

Publication Activity (10 Years)

Top Topics

Top Venues

Miriam Jane Smith (Miriam J Smith, Miriam Smith)