Publications by authors named "Alison Muir"

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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Alison M Muir

medRxiv· December 2025

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Size Matters. Prevalence and Clinical Implications of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy: A Systematic Review and Meta-Analysis.
Katie Linden, Nathan Green, Alison Muir, James W Malcolmson, Saidi A Mohiddin

J Am Heart Assoc· August 2025

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A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.
Alison M Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink

HGG Adv· April 2025

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Alison M Muir

Am J Hum Genet· August 2024

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Does comorbidity index predict OPAT readmission?
Ryan D Stubbs, Robert J Shorten, Valerio Benedetto, Alison Muir

JAC Antimicrob Resist· December 2023

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Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
Karolina M Stepien, Alexander Broomfield, Duncan Cole, Patrick B Deegan, Stuart Forshaw-Hulme, Alison Muir

Orphanet J Rare Dis· July 2023

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WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis, Alison M Muir

Epilepsia· May 2023

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Alison M Muir

Genet Med· December 2022

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The Utility of Sodium Channel Provocation in Unexplained Cardiac Arrest Survivors and Electrocardiographic Predictors of Ventricular Fibrillation Recurrence.
Bode Ensam, Christopher C Cheung, Fahad Almehmadi, Bo Gregers Winkel, Chiara Scrocco, Alison Muir

Circ Arrhythm Electrophysiol· December 2022

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Alison M Muir

Brain· July 2022

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Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Julien Barc, Rafik Tadros, Charlotte Glinge, David Y Chiang, Mariam Jouni, Alison Muir

Nat Genet· May 2022

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PIGN encephalopathy: Characterizing the epileptology.
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Alison Muir

Epilepsia· April 2022

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Outpatient parenteral antimicrobial therapy (OPAT) in the UK: findings from the BSAC National Outcomes Registry (2015-19).
Mark Gilchrist, David Barr, Felicity Drummond, Alison Muir, John Williams

J Antimicrob Chemother· April 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Alison M Muir

Am J Hum Genet· April 2022

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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Julien Barc, Rafik Tadros, Charlotte Glinge, David Y Chiang, Mariam Jouni, Alison Muir

Nat Genet· March 2022

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, Elizabeth M McCormick, Erfan Aref-Eshghi, Alison M Muir

Mol Genet Metab· January 2022

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A recurrent, pathogenic variant in disrupts actin filament formation and causes microcephaly and speech delay.
Dianne Laboy Cintron, Alison M Muir, Abbey Scott, Marie McDonald, Kristin G Monaghan

HGG Adv· January 2022

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G Williams, Alison M Muir

Genet Med· October 2021

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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G Williams, Alison M Muir

Genet Med· October 2021

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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M Muir

Ann Neurol· August 2021

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, Iris M de Lange, Jasper J van der Smagt

Genet Med· May 2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique R M Vlaskamp, Birgitte Bertelsen, Alison M Muir

Genet Med· February 2021

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger

Epilepsia· January 2021

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Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in Families.
Yanushi D Wijeyeratne, Michael W Tanck, Yuka Mizusawa, Velislav Batchvarov, Julien Barc, Alison Muir

Circ Genom Precis Med· December 2020

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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Angela Lopez-Sainz, Fernando Dominguez, Luis Rocha Lopes, Juan Pablo Ochoa, Roberto Barriales-Villa, Alison R Muir

J Am Coll Cardiol· July 2020

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