Simran Kaur Kaur

Cover, Volume 41, Issue 10

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf‐Greulich, Zeynep Tümer, et al.

Journal article  |  2020  |  Human Mutation

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti-Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf-Greulich, Zeynep Tumer, et al.

Journal article  |  2020  |  Human Mutation

Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of..

Identifying novel disease genes in genetically undiagnosed individuals with Rett syndrome and related neurodevelopmental disorders

Simranpreet Kaur

Thesis / Dissertation  |  2020

Rett Syndrome (RTT) is a severe neurodevelopmental disorder (NDD) resulting in severe cognitive and physical impairments. Despite ..

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

Simranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M White, Carolyn Ellaway, John Christodoulou

Journal article  |  2019  |  CLINICAL CASE REPORTS

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Bitten Schonewolf-Greulich, Anne-Marie Bisgaard, Morten Duno, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brondum-Nielsen, Martin J Larsen, Kristina P Sorensen, John Christodoulou, Christina R Fagerberg, Zeynep Tumer

Journal article  |  2019  |  Clinical Genetics

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

B Schonewolf-Greulich, A-M Bisgaard, RS Moller, M Duno, K Brondum-Nielsen, S Kaur, NJ Van Bergen, S Lunke, S Eggers, C Jespersgaard, J Christodoulou, Z Tumer

Journal article  |  2019  |  Clinical Genetics

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, et al.

Journal article  |  2018  |  Annals of Neurology

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Roula Ghaoui, Tatiana Benavides, Monkol Lek, Leigh B Waddell, Simranpreet Kaur, Kathryn N North, Daniel G MacArthur, Nigel F Clarke, Sandra T Cooper

Journal article  |  2016  |  Neuromuscular Disorders

Diagnosis and Etiology of Congenital Muscular Dystrophy: We Are Halfway There

Gina L O'Grady, Monkol Lek, Shireen R Lamande, Leigh Waddell, Emily C Oates, Jaya Punetha, Roula Ghaoui, Sarah A Sandaradura, Heather Best, Simranpreet Kaur, Mark Davis, Nigel G Laing, Francesco Muntoni, Eric Hoffman, Daniel G MacArthur, Nigel F Clarke, Sandra Cooper, Kathryn North

Journal article  |  2016  |  Annals of Neurology

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evila, Peter Hackman, Per-Harald Jonson, Sini Penttila, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G MacArthur, Carolyn M Sue, et al.

Journal article  |  2016  |  Neurology