Profil bibliographique

Kate Chandler

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

170Publications signalées

11177Citations signalées

6Affiliations récentes

Institutions déclarées

University of Liverpool University of Manchester Manchester University NHS Foundation Trust Liverpool Women's Hospital St Mary's Hospital Genomics (United Kingdom)

Domaines associés

Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesCongenital heart defects researchBlood disorders and treatments

Publications récentes

Accès ouvert 2026 articleOpenAlex

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

Molly Godfrey, Michael A. Levy, Christopher Campbell, Leigh Demain et autres

0 citationsEuropean Journal of Human Genetics

Accès ouvert 2026 articleOpenAlex

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

A. H. JACKSON, Alexander J. M. Blakes, Bader Alhaddad, Olivia J. Henry et autres

1 citationNature Genetics

Accès ouvert 2026 articleOpenAlex

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered matrix organisation and upregulation of the cholesterol biosynthesis pathway

Steven Woods, Nicola Bates, Stuart A. Cain, Paul A. Humphreys et autres

0 citationsOsteoarthritis and Cartilage

Accès ouvert 2025 preprintOpenAlex

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Elizabeth Wall, Natasha Clarke et autres

7 citationsmedRxiv

Accès ouvert 2025 preprintOpenAlex

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

Steven Paul Woods, Nicola Bates, Stuart A. Cain, Paul A. Humphreys et autres

0 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2025 preprintOpenAlex

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

James Fasham, Rucha Pandit, Adam T. Higgins, Dowon Kim et autres

2 citationsmedRxiv

Accès ouvert 2025 articleOpenAlex

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Christian Kubisch, Benjamin Cogné, Rachel Rabin, E Kessler et autres

0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)

Accès ouvert 2025 articleOpenAlex

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May et autres

7 citationsThe American Journal of Human Genetics

Accès ouvert 2024 articleOpenAlex

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Gabriel Aughey, Elisa Calì, Reza Maroofian, Maha S. Zaki et autres

1 citationBrain

Accès ouvert 2024 articleOpenAlex

Seven Novel Variants of Weiss‐Kruszka Syndrome and Phenotype Expansion

Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell et autres

1 citationAmerican Journal of Medical Genetics Part A

Accès ouvert 2024 articleOpenAlex

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

Harriet Copeland, Karen Low, Sarah L. Wynn, Ayesha Ahmed et autres

7 citationsGenetics in Medicine Open

Accès ouvert 2023 articleOpenAlex

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Lauren Jeffries, Emily K. Mis, Kirsty McWalter, Sandra Donkervoort et autres

11 citationsGenetics in Medicine

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