Publications by authors named "Emma Wade"

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Polygenic and developmental profiles of autism differ by age at diagnosis.
Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Emma M Wade

Nature· October 2025

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Polygenic and developmental profiles of autism differ by age at diagnosis.
Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Emma M Wade

medRxiv· July 2025

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NANOME: A Nextflow pipeline for haplotype-aware allele-specific consensus DNA methylation detection by nanopore long-read sequencing.
Yang Liu, Hash Brown Taha, Qiuyang Zhang, Ziwei Pan, Christina Chatzipantsiou, Emma Wade

bioRxiv· July 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

Eur J Clin Invest· December 2024

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Exome sequencing of UK birth cohorts.
Mahmoud Koko, Laurie Fabian, Iaroslav Popov, Ruth Y Eberhardt, Gennadii Zakharov, Emma E Wade

Wellcome Open Res· 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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Idiopathic juvenile osteoporosis-a polygenic disorder?
Emma Wade, Katie Mulholland, Ian Shaw, Tim Cundy, Stephen Robertson

JBMR Plus· September 2024

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filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function.
Emma M Wade, Elizabeth A Goodin, Yongqiang Wang, Tim Morgan, Karen E Callon

Bone Rep· June 2023

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Quantifying the fraction of new mutations that are recessive lethal.
Emma E Wade, Christopher C Kyriazis, Maria Izabel A Cavassim, Kirk E Lohmueller

Evolution· June 2023

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Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia.
Emma M Wade, Padmini Parthasarathy, Jingyi Mi, Tim Morgan, Bernd Wollnik

Eur J Hum Genet· April 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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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Alexander J M Blakes, Emily Gaul, Wayne Lam, Nora Shannon, Karen M Knapp, Emma M Wade

Eur J Hum Genet· April 2021

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Intragenic Deletions in Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
Kaya Fukushima, Padmini Parthasarathy, Emma M Wade, Tim Morgan, Kalpana Gowrishankar

Genes (Basel)· April 2021

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Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
Steffi Daniel, Marian Renwick, Viet Q Chau, Shyamtanu Datta, Prabhavathi Maddineni, Emma M Wade

J Mol Med (Berl)· November 2020

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Deletion of Exon 1 in in Osteopathia Striata with Cranial Sclerosis.
Jingyi Mi, Padmini Parthasarathy, Benjamin J Halliday, Tim Morgan, John Dean, Emma M Wade

Genes (Basel)· November 2020

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Facilitating microplastic quantification through the introduction of a cellulose dissolution step prior to oxidation: Proof-of-concept and demonstration using diverse samples from the Inner Oslofjord, Norway.
Linn Merethe Brekke Olsen, Heidi Knutsen, Sabnam Mahat, Emma Jane Wade, Hans Peter H Arp

Mar Environ Res· October 2020

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Microplastic accumulation by tube-dwelling, suspension feeding polychaetes from the sediment surface: A case study from the Norwegian Continental Shelf.
Heidi Knutsen, Jakob Bonnevie Cyvin, Christian Totland, Øyvind Lilleeng, Emma Jane Wade

Mar Environ Res· October 2020

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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Lucia Micale, Silvia Morlino, Tommaso Biagini, Annalucia Carbone, Carmela Fusco, Emma M Wade

Biochim Biophys Acta Mol Basis Dis· June 2020

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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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Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Sean G W Driver, Meremaihi R Jackson, Konrad Richter, Paul Tomlinson, Ben Brockway, Emma M Wade

Eur J Hum Genet· April 2020

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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Silvia Morlino, Annalucia Carbone, Marco Ritelli, Carmela Fusco, Vincenzo Giambra, Emma M Wade

Hum Mutat· October 2019

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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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Sorbent amendment as a remediation strategy to reduce PFAS mobility and leaching in a contaminated sandy soil from a Norwegian firefighting training facility.
Sarah E Hale, Hans Peter H Arp, Gøril Aasen Slinde, Emma Jane Wade, Kamilla Bjørseth

Chemosphere· March 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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