Publications by authors named "Zandra Jenkins"

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A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive development.
Luisa Weiss, Macarena Pavez, Anastasia Labudina, Liliia Andriichuk, Owen Jones, Zandra Jenkins

Brain· December 2025

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The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice.
Emma M Wade, Elizabeth A Goodin, Tim Morgan, Stephana Pereira, Adele G Woolley, Zandra A Jenkins

Eur J Clin Invest· December 2024

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Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Emma M Wade, Tim Morgan, Gregory Gimenez, Zandra A Jenkins, Hannah Titheradge

Am J Med Genet A· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Zandra A Jenkins

HGG Adv· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Zandra A Jenkins

HGG Adv· July 2024

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Amy G Jones, Matilde Aquilino, Rory J Tinker, Laura Duncan, Zandra Jenkins

Am J Hum Genet· April 2024

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Zandra Jenkins

Hum Mutat· November 2022

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Zandra Jenkins

HGG Adv· January 2022

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Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Emma M Wade, Zandra A Jenkins, Tim Morgan, Gregory Gimenez, Hayley Gibson

Am J Med Genet A· December 2021

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The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Emma M Wade, Benjamin J Halliday, Zandra A Jenkins, Adam C O'Neill, Stephen P Robertson

Hum Mutat· May 2020

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An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
Hui Peng, Zandra A Jenkins, Ruby White, Sam Connors, Matthew F Hunter

J Clin Endocrinol Metab· March 2020

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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, Marja Wessels, Candy Z N Tang, Zandra A Jenkins

Am J Hum Genet· September 2019

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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
Adam C O'Neill, Christina Kyrousi, Johannes Klaus, Richard J Leventer, Edwin P Kirk, Zandra A Jenkins

Cell Rep· December 2018

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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, Marja Wessels, Candy Z N Tang, Zandra A Jenkins

Am J Hum Genet· June 2018

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The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease.
Jacques Baudier, Zandra A Jenkins, Stephen P Robertson

J Cell Sci· April 2018

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Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, Margriet van Kogelenberg, Tim Morgan

Hum Mutat· January 2018

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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor

Am J Med Genet A· July 2017

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Emma M Wade, Philip B Daniel, Zandra A Jenkins, Aideen McInerney-Leo, Paul Leo

Am J Hum Genet· August 2016

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
Margriet van Kogelenberg, Alice R Clark, Zandra Jenkins, Tim Morgan, Ananda Anandan

J Mol Med (Berl)· July 2015

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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Silvia Cappello, Mary J Gray, Caroline Badouel, Simona Lange, Melanie Einsiedler, Zandra A Jenkins

Nat Genet· November 2013

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Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Heather R Tiffin, Zandra A Jenkins, Mary J Gray, Sophia R Cameron-Christie, Jennifer Eaton

Neurogenetics· May 2013

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The male phenotype in osteopathia striata congenita with cranial sclerosis.
Sarah K Holman, Phil Daniel, Zandra A Jenkins, Rachel L Herron, Tim Morgan

Am J Med Genet A· October 2011

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RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.
Olivia Gay, Benoît Gilquin, Fumihiko Nakamura, Zandra A Jenkins, Rosannah McCartney

Proc Natl Acad Sci U S A· July 2011

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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, Aaron Jeffs, Ryuji Fukuzawa

Nat Genet· January 2009

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Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression.
Zandra A Jenkins, Ward Hagar, Christopher L Bowlus, Hans E Johansson, Paul Harmatz

Pediatr Hematol Oncol· June 2007

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