De novo mutations in HNRNPU result in a neurodevelopmental syndrome
Yates, T. Michael, Vasudevan, Pradeep C., Chandler, Kate E., Donnelly, Deirdre E, Stark, Zornitza, Sadedin, Simon, Willoughby, Josh, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient
Willoughby, Josh, Duff‐Farrier, Celia, Desurkar, Archana, Kurian, Manju, Raghavan, Ashok, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Schirwani, Schaida, McConnell, Vivienne, Willoughby, Josh, Balasubramanian, Meena
Published in Gene (15.02.2019)
Published in Gene (15.02.2019)
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Journal Article
Genomics for paediatricians: promises and pitfalls
Hammond, Carrie Louise, Willoughby, Josh Matthew, Parker, Michael James
Published in Archives of disease in childhood (01.09.2018)
Published in Archives of disease in childhood (01.09.2018)
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Journal Article
Assessment of droplet digital polymerase chain reaction for measuring BCR‐ABL1 in chronic myeloid leukaemia in an international interlaboratory study
Scott, Stuart, Cartwright, Ashley, Francis, Sebastian, Whitby, Liam, Sanzone, A. Pia, Mulder, André, Galimberti, Sara, Dulucq, Stephanie, Mauté, Carole, Lauricella, Calogero, Salmon, Matthew, Rose, Susan, Willoughby, Josh, Boeckx, Nancy, Pallisgaard, Niels, Maier, Jacqueline, Leibundgut, Elisabeth O., Zizkova, Hana, Ling Goh, Liuh, Duong, Chinh, Tang, Wing F., Ma, Edmond, Shivakumar, Yogesh, Beppu, Lan, Bhagavatula, Prasanthi, Chantry, Andrew
Published in British journal of haematology (01.07.2021)
Published in British journal of haematology (01.07.2021)
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Journal Article
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
Radley, Jessica A., O'Sullivan, Rory B.G., Turton, Sarah E., Cox, Helen, Vogt, Julie, Morton, Jenny, Jones, Elizabeth, Smithson, Sarah, Lachlan, Katherine, Rankin, Julia, Clayton‐Smith, Jill, Willoughby, Josh, Elmslie, Frances F., Sansbury, Francis H., Cooper, Nicola, Balasubramanian, Meena
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
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Journal Article
Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant
Michael Yates, Thabo, Ng, Oon‐Hui, Offiah, Amaka C., Willoughby, Josh, Berg, Jonathan N., Johnson, Diana S.
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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Journal Article