Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
Greene, Daniel, Thys, Chantal, Berry, Ian R., Jarvis, Joanna, Ortibus, Els, Mumford, Andrew D., Freson, Kathleen, Turro, Ernest
Published in Nature medicine (01.08.2024)
Published in Nature medicine (01.08.2024)
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Journal Article
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
Garrett, Alice, Durkie, Miranda, Callaway, Alison, Burghel, George J, Robinson, Rachel, Drummond, James, Torr, Bethany, Cubuk, Cankut, Berry, Ian R, Wallace, Andrew J, Ellard, Sian, Eccles, Diana M, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Published in Journal of medical genetics (01.05.2021)
Published in Journal of medical genetics (01.05.2021)
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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George J, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy, Cranston, Treena, Palmer-Smith, Sheila, Baralle, Diana, Berry, Ian R, Drummond, James, Wallace, Andrew J, Norbury, Gail, Eccles, Diana M, Ellard, Sian, Lalloo, Fiona, Evans, D Gareth, Woodward, Emma, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare
Published in Journal of medical genetics (01.12.2020)
Published in Journal of medical genetics (01.12.2020)
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Student impressions of instructors based on Zoom backgrounds: investigating perceived technology skills of instructors and affective learning of students
Kelly, Stephanie, Kim, Jihyun, Berry, Ian, Goke, Ryan
Published in Frontiers in computer science (Lausanne) (03.05.2024)
Published in Frontiers in computer science (Lausanne) (03.05.2024)
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Journal Article
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
Loong, Lucy, Garrett, Alice, Allen, Sophie, Choi, Subin, Durkie, Miranda, Callaway, Alison, Drummond, James, Burghel, George J, Robinson, Rachel, Torr, Beth, Berry, Ian R, Wallace, Andrew J, Eccles, Diana M, Ellard, Sian, Baple, Emma, Evans, D Gareth, Woodward, Emma R, Kulkarni, Anjana, Lalloo, Fiona, Tischkowitz, Marc, Lucassen, Anneke, Hanson, Helen, Turnbull, Clare
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
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Journal Article
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
Boudin, Eveline, de Jong, Tjeerd R., Prickett, Tim C.R., Lapauw, Bruno, Toye, Kaatje, Van Hoof, Viviane, Luyckx, Ilse, Verstraeten, Aline, Heymans, Hugo S.A., Dulfer, Eelco, Van Laer, Lut, Berry, Ian R., Dobbie, Angus, Blair, Ed, Loeys, Bart, Espiner, Eric A., Wit, Jan M., Van Hul, Wim, Houpt, Peter, Mortier, Geert R.
Published in American journal of human genetics (02.08.2018)
Published in American journal of human genetics (02.08.2018)
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Journal Article
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia
Kaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, Salpietro, Vincenzo, Neshatdoust, Maedeh, Kasiri, Mahboubeh, Yesil, Gozde, Uygur, Turkan, Pysden, Karen, Berry, Ian R., Alves, Cesar Augusto, Giacomotto, Jean, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.06.2024)
Published in Movement disorders (01.06.2024)
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Journal Article
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability
Schirwani, Schaida, Metcalfe, Kay, Wagner, Bart, Berry, Ian, Sobey, Glenda, Jewell, Rosalyn
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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Journal Article
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Hartill, Verity L, van de Hoek, Glenn, Patel, Mitali P, Little, Rosie, Watson, Christopher M, Berry, Ian R, Shoemark, Amelia, Abdelmottaleb, Dina, Parkes, Emma, Bacchelli, Chiara, Szymanska, Katarzyna, Knoers, Nine V, Scambler, Peter J, Ueffing, Marius, Boldt, Karsten, Yates, Robert, Winyard, Paul J, Adler, Beryl, Moya, Eduardo, Hattingh, Louise, Shenoy, Anil, Hogg, Claire, Sheridan, Eamonn, Roepman, Ronald, Norris, Dominic, Mitchison, Hannah M, Giles, Rachel H, Johnson, Colin A
Published in Human molecular genetics (01.02.2018)
Published in Human molecular genetics (01.02.2018)
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Journal Article
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
Nikolopoulos, Georgios, Smith, Claire E. L., Poulter, James A., Murillo, Gina, Silva, Sandra, Lamb, Teresa, Berry, Ian R., Brown, Catriona J., Day, Peter F., Soldani, Francesca, Al‐Bahlani, Suhaila, Harris, Sarah A., O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Published in Human mutation (01.05.2021)
Published in Human mutation (01.05.2021)
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Journal Article
Cerebral hypomyelination associated with biallelic variants of FIG4
Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul‐Fernandez, Miriam, Rodriguez‐Casero, Victoria, Lockhart, Paul J., Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article
An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease
Singh, Rahul Raman, Livingston, John, Lim, Ming, Berry, Ian R, Siddiqui, Ata
Published in European journal of paediatric neurology (01.03.2017)
Published in European journal of paediatric neurology (01.03.2017)
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Journal Article
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease
Green, Lydia, Berry, Ian R, Childs, Anne-Marie, McCullagh, Helen, Jose, Sandhya, Warren, Dan, Craven, Ian, Camm, Nick, Prescott, Katrina, van der Knaap, Marjo S, Sheridan, Eamonn, Livingston, John H
Published in Neuropediatrics (01.04.2018)
Published in Neuropediatrics (01.04.2018)
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Journal Article
WED 203 Vanishing white matter disease due to variant mutations in the EIF2B- 1 gene
Priya, Bangalore, R, Berry Ian, John, Livingston, Dan, Warren, J, Nicholl David, Mary, O’ Driscoll, Tom, Hayton
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
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Journal Article
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome
Whitehouse, Laura L. E., Smith, Claire E. L., Poulter, James A., Brown, Catriona J., Patel, Anesha, Lamb, Teresa, Brown, Lucy R., O’Sullivan, Elizabeth A., Mitchell, Rowena E., Berry, Ian R., Charlton, Ruth, Inglehearn, Chris F., Mighell, Alan J.
Published in Oral diseases (01.01.2019)
Published in Oral diseases (01.01.2019)
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Journal Article
A procedure for setting up high-throughput nanolitre crystallization experiments. Crystallization workflow for initial screening, automated storage, imaging and optimization
Walter, Thomas S., Mayo, Chris J., Brown, James, Carter, Lester, Diprose, Jonathan M., Siebold, Christian, Pickford, Mike G., Sutton, Geoff C., Berrow, Nick S., Berry, Ian M., Stewart-Jones, Guillaume B. E., Grimes, Jonathan M., Stammers, David K., Jones, E. Yvonne, Esnouf, Robert M., Owens, Ray J., Stuart, David I., Harlos, Karl
Published in Acta crystallographica. Section D, Biological crystallography. (01.06.2005)
Published in Acta crystallographica. Section D, Biological crystallography. (01.06.2005)
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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Watson, Christopher M, Crinnion, Laura A, Berry, Ian R, Harrison, Sally M, Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S, Dobbie, Angus, Carr, Ian M, Bonthron, David T
Published in BMC medical genetics (04.01.2016)
Published in BMC medical genetics (04.01.2016)
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Journal Article
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation
von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Published in Familial cancer (01.10.2018)
Published in Familial cancer (01.10.2018)
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Journal Article
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis
Jewell, Rosalyn, Brewer, Paul, Stenton, Sophie, Berry, Ian R, Chatfield, Sue, Fernandes, James A, Peres, Cesar, Wagner, Bart E, Bennett, Christopher
Published in Ultrastructural pathology (04.03.2018)
Published in Ultrastructural pathology (04.03.2018)
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Journal Article
SPINE high-throughput crystallization, crystal imaging and recognition techniques: current state, performance analysis, new technologies and future aspects
Berry, Ian M., Dym, O., Esnouf, R. M., Harlos, K., Meged, R., Perrakis, A., Sussman, J. L., Walter, T. S., Wilson, J., Messerschmidt, Albrecht
Published in Acta crystallographica. Section D, Biological crystallography. (01.10.2006)
Published in Acta crystallographica. Section D, Biological crystallography. (01.10.2006)
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