Sarah A Cumming (Sarah Cumming)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Venues

European journal of human genetics : EJHG

Neurology. Genetics

Human mutation

Scientific reports

University of Glasgow

University of Cambridge (PHD)

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

Affiliation History

University of Glasgow Jun 01 2011

United Kingdom

Research Associate :: Molecular, Cell and Systems Biology

Education History

University of Cambridge Jan 10 1990 - Mar 15 1995

United Kingdom

PHD :: Pathology

Publications

Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG (2024)
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG 32 (7) (2024)
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG 32 (7) (2024)
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG 32 (7) (2024)
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG (2024)
Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete, Sarah A Cumming, null null, Darren G Monckton, María A Ramos-Arroyo
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. European journal of human genetics : EJHG 32 (7) (2024)
Stephan Wenninger, Sarah A Cumming, Kristina Gutschmidt, Kees Okkersen, Aura Cecilia Jimenez-Moreno, Ferroudja Daidj, Hanns Lochmüller, Fiona Hogarth, Hans Knoop, Guillaume Bassez, Darren G Monckton, Baziel G M van Engelen, Benedikt Schoser
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1. Neurology. Genetics 7 (2) (2021)
Ellen van der Plas, Timothy R Koscik, Vincent A Magnotta, Sarah A Cumming, Darren G Monckton, Laurie Gutmann, Peggy C Nopoulos
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1. Neurology. Genetics 7 (2) (2021)
Timothy R Koscik, Ellen van der Plas, Laurie Gutmann, Sarah A Cumming, Darren G Monckton, Vincent Magnotta, Richard K Shields, Peggy C Nopoulos
White matter microstructure relates to motor outcomes in myotonic dystrophy type 1 independently of disease duration and genetic burden. Scientific reports 11 (1) (2021)
Erik Landfeldt, Nikoletta Nikolenko, Cecilia Jimenez-Moreno, Sarah A Cumming, Darren G Monckton, Catharina G Faber, Ingemar S J Merkies, Grainne Gorman, Chris Turner, Hanns Lochmüller
Activities of daily living in myotonic dystrophy type 1. Acta neurologica Scandinavica 141 (5) (2020)
Jacob N Miller, Ellen van der Plas, Mark J Hamilton, Timothy R Koscik, Laurie Gutmann, Sarah A Cumming, Darren G Monckton, Peggy C Nopoulos
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1. Neurology. Genetics 6 (5) (2020)
Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G Monckton, Sarah A Cumming, Guillem Pintos-Morell, Jaume Coll-Cantí, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1. Genes 11 (11) (2020)
Sarah A Cumming, Aura Cecilia Jimenez-Moreno, Kees Okkersen, Stephan Wenninger, Ferroudja Daidj, Fiona Hogarth, Roberta Littleford, Gráinne Siobhan Gorman, Guillaume Bassez, Benedikt Schoser, Hanns Lochmüller, Baziel G M van Engelen, Darren G Monckton, null null
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. Neurology 93 (10) (2019)
Alfonsina Ballester-Lopez, Emma Koehorst, Miriam Almendrote, Alicia Martínez-Piñeiro, Giuseppe Lucente, Ian Linares-Pardo, Judit Núñez-Manchón, Nicolau Guanyabens, Antoni Cano, Alejandro Lucia, Gayle Overend, Sarah A Cumming, Darren G Monckton, Teresa Casadevall, Irina Isern, Josep Sánchez-Ojanguren, Albert Planas, Agustín Rodriguez-Palmero, Laura Monlleó-Neila, Guillem Pintos-Morell, Alba Ramos-Fransi, Jaume Coll-Cantí, Gisela Nogales-Gadea
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. Human mutation 41 (2) (2019)
Sarah A Cumming, Mark J Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Anneli Cooper, Berit Adam, Josephine McGhie, Graham Hamilton, Pawel Herzyk, Michael R Tschannen, Elizabeth Worthey, Richard Petty, Bob Ballantyne, null null, Jon Warner, Maria Elena Farrugia, Cheryl Longman, Darren G Monckton
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European journal of human genetics : EJHG 26 (11) (2018)

Sarah A Cumming (Sarah Cumming)

Publication Activity (10 Years)

Top Topics

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