Simranpreet Kaur

Osteal macrophages support osteoclast-mediated resorption and contribute to bone pathology in a postmenopausal osteoporosis mouse model.

Lena Batoon, Susan M Millard, Liza J Raggatt, Andy C Wu, Simranpreet Kaur, Lucas WH Sun, Kyle Williams, Cheyenne Sandrock, Pei Ying Ng, Katharine M Irvine, Michal Bartnikowski, Vaida Glatt, Nathan J Pavlos, Allison R Pettit

Journal article  |  2021  |  J Bone Miner Res

Osteal macrophages (osteomacs) support osteoblast function and promote bone anabolism, but their contribution to osteoporosis has ..

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T Ahrendsen, Matthew P Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K Chung

Journal article  |  2021  |  HGG Adv

KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A..

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou

Journal article  |  2020  |  JOURNAL OF GENETICS AND GENOMICS

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

Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome-like (RTT-like) p..

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

Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients..

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

The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing-based techniques and ..

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

OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this import..