Miriam J. Smith - Faculty of Biology, Medicine and Human Sciences, University of Manchester

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Papers共 134 篇Author StatisticsCo-AuthorSimilar Experts

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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, Ana K Simmons, Leoma D Bere, Daniel G Lewis, Pedro Oliveira,Miriam J Smith,Andrew T King, D Gareth R Evans,Pawel Paszek,David Brough, Omar N Pathmanaban,Kevin N Couper

Nature communicationsno. 1 (2025): 2944-2944

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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

Journal of medical genetics (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, Nathanael I Singh,Tamar Skaist Mehlman,Blake T Riley,Shivani Sharma, Jackson W Morris,Julia M Keogh,Elana Henning,Miriam Smith,I Sadaf Farooqi,Daniel A Keedy

bioRxiv the preprint server for biology (2025)

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16P11.2 Distal BP2-BP3 Deletions and SH2B1 Variants Are Associated with a Subtype of Obesity with Accelerated Metabolic Disease

Chiara Auwerx,Ruth Hanssen,Maarja Lepamets,Marie Sadler,Elana Henning,Julia Keogh,Rebecca Bounds,Miriam Smith,Helen Firth,Zoltan Kutalik,Sadaf Farooqi,Katherine Lawler,Alexandre Reymond

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 434-434

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High-Dimensional Imaging of Vestibular Schwannoma Reveals Distinctive Immunological Networks Across Histomorphic Niches in NF2-related Schwannomatosis

Adam P. Jones,Michael J. Haley,Grace E. Gregory,Cathal J. Hannan, Ana K. Simmons,Leoma D. Bere,Daniel G. Lewis, Pedro Oliveira,Miriam J. Smith,Andrew T. King,D Gareth R. Evans,Pawel Paszek,David Brough,Omar N. Pathmanaban,Kevin N. Couper

biorxiv（2024）

Cited1Views0Bibtex

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, Prasun Dutta,Mona Hashim,Carme Camps, Hannah Green, Smrithi Devaiah,Lina Nashef, Jason Parr,Carl Fratter, Rana Ibnouf Hussein,Sarah J. Lindsay,Fiona Lalloo,Benito Banos-Pinero,David Evans, Lucy Mallin, Adrian Waite,Julie Evans, Andrew Newman, Zoe Allen, Cristina Perez-Becerril,Gavin Ryan,Rachel Hart,John Taylor,Tina Bedenham,Emma Clement,Ed Blair,Eleanor Hay,Francesca Forzano,Jenny Higgs,Natalie Canham,Anirban Majumdar,Meriel Mcentagart,Nayana Lahiri,Helen Stewart,Sarah Smithson,Eduardo Calpena,Adam Jackson,Siddharth Banka,Hannah Titheradge,Ruth Mcgowan,Julia Rankin,Charles Shaw-Smith,D. Gareth Evans,George J. Burghel,Miriam J. Smith,Emily Anderson,Rajesh Madhu,Helen Firth,Sian Ellard,Paul Brennan, Claire Anderson,Doug Taupin,Mark T. Rogers,Jackie A. Cook,Miranda Durkie,James E. East,Darren Fowler,Louise Wilson,Rebecca Igbokwe,Alice Gardham,Ian Tomlinson,Diana Baralle,Holm H. Uhlig,Jenny C. Taylor

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1140-1164

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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,Anthony Howell,Ashu Gandhi,Emma Roisin Woodward

JOURNAL OF MEDICAL GENETICSno. 10 (2024): 935-936

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Improved Sensitivity for Detection of Pathogenic Variants in Familial NF2-related Schwannomatosis

Cristina Perez-Becerril,George J. Burghel,Claire Hartley, Charles F. Rowlands,D. Gareth Evans,Miriam J. Smith

JOURNAL OF MEDICAL GENETICSno. 5 (2024): 452-458

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JOURNAL OF MEDICAL GENETICSno. 9 (2024): 856-860

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Genetic Findings in People with Schwannomas Who Do Not Meet Clinical Diagnostic Criteria Fornf2-Related Schwannomatosis

Miriam J. Smith,Cristina Perez-Becerril, Mwee van der Meer,George J. 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

JOURNAL OF MEDICAL GENETICS（2024）

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