Publications by authors named "Miriam Smith"

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Recurrence of Streptococcus agalactiae bacteremia - risk factors and complications.
Jonathan A Garellek, Taylor Wang, Marcia Epstein, Angela Kim, Adam Zimilover, Miriam A Smith

J Microbiol Immunol Infect· December 2025

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A Novel Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.
Miriam J Smith, Emily-Jayne Shell, George J Burghel, Megan Carney, Sarah J Waller

Mol Syndromol· December 2025

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Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.
Stefanie Zorn, Rebecca Bounds, Alice Williamson, Katherine Lawler, Ruth Hanssen, Miriam Smith

Nat Med· December 2025

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Structures of human protein tyrosine phosphatase variants reveal targetable allosteric sites.
Aliki Perdikari, Virgil A Woods, Ali Ebrahim, Katherine Lawler, Rebecca Bounds, Miriam Smith

J Biol Chem· December 2025

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Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.
Miriam J Smith

Fam Cancer· November 2025

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Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.
Tessa M Cacciottolo, Katherine Lawler, Kevin M Méndez-Acevedo, Edson Mendes de Oliveira, Adam Syanda, Miriam Smith

Diabetes· October 2025

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Genomics of vestibular schwannoma.
Miriam J Smith, Ludwine M Messiaen, D Gareth Evans

Handb Clin Neurol· October 2025

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Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Miriam J Smith, George J Burghel, D Gareth Evans

J Med Genet· June 2025

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Structures of human PTP1B variants reveal allosteric sites to target for weight loss therapy.
Aliki Perdikari, Virgil A Woods, Ali Ebrahim, Katherine Lawler, Rebecca Bounds, Miriam Smith

bioRxiv· March 2025

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Nutritional Interventions to Attenuate Quadriceps Muscle Deficits following Anterior Cruciate Ligament Injury and Reconstruction.
Miriam J Smith, Nolan J Hoffman, Argell J San Jose, Louise M Burke, David A Opar

Sports Med· March 2025

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Spatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannoma.
Adam P Jones, Michael J Haley, Miriam H Meadows, Grace E Gregory, Cathal J Hannan, Miriam J Smith

Nat Commun· March 2025

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West Nile Neuroinvasive Disease: Case Series and Review of the Literature.
Rachel Alter, Stefan Juretschko, Miriam A Smith

Am J Ther· January 2025

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Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for -related schwannomatosis.
Miriam J Smith, Cristina Perez-Becerril, Mwee van der Meer, George J Burghel, Sarah J Waller, Philip T Smith

J Med Genet· October 2024

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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?
D Gareth Evans, Sacha J Howell, George J Burghel, Claire Forde, Fiona Lalloo, Miriam J Smith

J Med Genet· September 2024

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-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
Claire Forde, Miriam J Smith, George J Burghel, Naomi Bowers, Nicola Roberts

J Med Genet· August 2024

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Alistair T Pagnamenta, Jing Yu, Susan Walker, Alexandra J Noble, Jenny Lord, Sarah Smithson, Charles Shaw-Smith, Miriam J Smith

Am J Hum Genet· June 2024

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Improved sensitivity for detection of pathogenic variants in familial -related schwannomatosis.
Cristina Perez-Becerril, George J Burghel, Claire Hartley, Charles F Rowlands, D Gareth Evans, Miriam J Smith

J Med Genet· April 2024

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Curriculum and Competency Guidelines for the Advanced Care Practitioner in Infectious Disease.
Miriam A Smith, Paul Zelenetz, Angela Kim, Henry Donaghy, J Scott Gould

Open Forum Infect Dis· January 2024

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Population-based germline testing of , and in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
D Gareth Evans, Emma R Woodward, George J Burghel, Sophie Allen, Beth Torr, Miriam J Smith

Genet Med Open· November 2023

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Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.
Eleanor Roberts, Elke M van Veen, Helen Byers, Ofra Barnett-Griness, Naomi Gronich, Miriam J Smith

Genet Med· October 2023

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Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer.
Nicola Flaum, John Bowes, Miriam J Smith, Emma J Crosbie, Richard Edmondson

Genet Med· September 2023

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Health Systems in High-Performance Sport: Key Functions to Protect Health and Optimize Performance in Elite Athletes.
Michael K Drew, Liam A Toohey, Miriam Smith, Christine M Baugh, Hannah Carter

Sports Med· August 2023

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Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
Ruth Hanssen, Chiara Auwerx, Maarja Jõeloo, Marie C Sadler, , Miriam Smith

Cell Rep Med· August 2023

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Accelerated waning of the humoral response to COVID-19 vaccines in obesity.
Agatha A van der Klaauw, Emily C Horner, Pehuén Pereyra-Gerber, Utkarsh Agrawal, William S Foster, Miriam Smith, Jack A Smith

Nat Med· May 2023

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The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.
Grace E Gregory, Abdurrahman I Islim, Cathal John Hannan, Adam P Jones, Charlotte Hammerbeck-Ward, Miriam J Smith

Neurooncol Adv· May 2023

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