Works by Baralle, Diana

Results: 49
    1

    A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.

    Published in:
    Human Mutation, 2023, p. 1, doi. 10.1155/2023/6633248
    By:
    • Pagnamenta, Alistair T.;
    • Yu, Jing;
    • Willis, Tracey A.;
    • Hashim, Mona;
    • Seaby, Eleanor G.;
    • Walker, Susan;
    • Xian, Jiaqi;
    • Cheng, Emily W. Y.;
    • Tavares, Ana Lisa Taylor;
    • Forzano, Francesca;
    • Cox, Helen;
    • Dabir, Tabib;
    • Brady, Angela F.;
    • Ghali, Neeti;
    • Atanur, Santosh S.;
    • Ennis, Sarah;
    • Baralle, Diana;
    • Taylor, Jenny C.
    Publication type:
    Article
    2

    Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. 963, doi. 10.1002/humu.24378
    By:
    • Wai, Htoo A.;
    • Constable, Matthew;
    • Drewes, Cosima;
    • Davies, Ian C.;
    • Svobodova, Eliska;
    • Dempsey, Esther;
    • Saggar, Anand;
    • Homfray, Tessa;
    • Mansour, Sahar;
    • Douzgou, Sofia;
    • Barr, Kate;
    • Mercer, Catherine;
    • Hunt, David;
    • Douglas, Andrew G. L.;
    • Baralle, Diana
    Publication type:
    Article
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    Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 6, p. 657, doi. 10.1038/ng0614-657c
    By:
    • Tatton-Brown, Katrina;
    • Seal, Sheila;
    • Ruark, Elise;
    • Harmer, Jenny;
    • Ramsay, Emma;
    • del Vecchio Duarte, Silvana;
    • Zachariou, Anna;
    • Hanks, Sandra;
    • O'Brien, Eleanor;
    • Aksglaede, Lise;
    • Baralle, Diana;
    • Dabir, Tabib;
    • Gener, Blanca;
    • Goudie, David;
    • Homfray, Tessa;
    • Kumar, Ajith;
    • Pilz, Daniela T;
    • Selicorni, Angelo;
    • Temple, I Karen;
    • Van Maldergem, Lionel
    Publication type:
    Article
    6

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 385, doi. 10.1038/ng.2917
    By:
    • Tatton-Brown, Katrina;
    • Seal, Sheila;
    • Ruark, Elise;
    • Harmer, Jenny;
    • Ramsay, Emma;
    • del Vecchio Duarte, Silvana;
    • Zachariou, Anna;
    • Hanks, Sandra;
    • O'Brien, Eleanor;
    • Aksglaede, Lise;
    • Baralle, Diana;
    • Dabir, Tabib;
    • Gener, Blanca;
    • Goudie, David;
    • Homfray, Tessa;
    • Kumar, Ajith;
    • Pilz, Daniela T;
    • Selicorni, Angelo;
    • Temple, I Karen;
    • Van Maldergem, Lionel
    Publication type:
    Article
    7

    A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

    Published in:
    Nature Genetics, 2005, v. 37, n. 4, p. 353, doi. 10.1038/ng1539
    By:
    • Bond, Jacquelyn;
    • Roberts, Emma;
    • Springell, Kelly;
    • Lizarraga, Sophia;
    • Scott, Sheila;
    • Higgins, Julie;
    • Hampshire, Daniel J;
    • Morrison, Ewan E;
    • Leal, Gabriella F;
    • Silva, Elias O;
    • Costa, Suzana M R;
    • Baralle, Diana;
    • Raponi, Michela;
    • Karbani, Gulshan;
    • Rashid, Yasmin;
    • Jafri, Hussain;
    • Bennett, Christopher;
    • Corry, Peter;
    • Walsh, Christopher A;
    • Woods, C Geoffrey
    Publication type:
    Article
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    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

    Published in:
    Human Molecular Genetics, 2020, v. 29, n. 11, p. 1900, doi. 10.1093/hmg/ddaa050
    By:
    • Alharatani, Reham;
    • Ververi, Athina;
    • Beleza-Meireles, Ana;
    • Ji, Weizhen;
    • Mis, Emily;
    • Patterson, Quinten T;
    • Griffin, John N;
    • Bhujel, Nabina;
    • Chang, Caitlin A;
    • Dixit, Abhijit;
    • Konstantino, Monica;
    • Healy, Christopher;
    • Hannan, Sumayyah;
    • Neo, Natsuko;
    • Cash, Alex;
    • Li, Dong;
    • Bhoj, Elizabeth;
    • Zackai, Elaine H;
    • Cleaver, Ruth;
    • Baralle, Diana
    Publication type:
    Article
    12

    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2256, doi. 10.1093/hmg/ddw094
    By:
    • de la Hoya, Miguel;
    • Soukarieh, Omar;
    • López-Perolio, Irene;
    • Vega, Ana;
    • Walker, Logan C.;
    • van Ierland, Yvette;
    • Baralle, Diana;
    • Santamariña, Marta;
    • Lattimore, Vanessa;
    • Wijnen, Juul;
    • Whiley, Philip;
    • Blanco, Ana;
    • Raponi, Michela;
    • Hauke, Jan;
    • Wappenschmidt, Barbara;
    • Becker, Alexandra;
    • Hansen, Thomas V. O.;
    • Behar, Raquel;
    • Niederacher, Diether;
    • Arnold, Norbert
    Publication type:
    Article
    13

    Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666
    By:
    • Colombo, Mara;
    • Blok, Marinus J.;
    • Whiley, Phillip;
    • Santamariña, Marta;
    • Gutiérrez-Enríquez, Sara;
    • Romero, Atocha;
    • Garre, Pilar;
    • Becker, Alexandra;
    • Smith, Lindsay Denise;
    • De Vecchi, Giovanna;
    • Brandão, Rita D.;
    • Tserpelis, Demis;
    • Brown, Melissa;
    • Blanco, Ana;
    • Bonache, Sandra;
    • Menéndez, Mireia;
    • Houdayer, Claude;
    • Foglia, Claudia;
    • Fackenthal, James D.;
    • Baralle, Diana
    Publication type:
    Article
    14

    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00850-w
    By:
    • Macken, William L.;
    • Godwin, Annie;
    • Wheway, Gabrielle;
    • Stals, Karen;
    • Nazlamova, Liliya;
    • Ellard, Sian;
    • Alfares, Ahmed;
    • Aloraini, Taghrid;
    • AlSubaie, Lamia;
    • Alfadhel, Majid;
    • Alajaji, Sulaiman;
    • Wai, Htoo A.;
    • Self, Jay;
    • Douglas, Andrew G. L.;
    • Kao, Alexander P.;
    • Guille, Matthew;
    • Baralle, Diana
    Publication type:
    Article
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    Further delineation of phenotypic spectrum of SCN2A‐related disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
    By:
    • Richardson, Ruth;
    • Baralle, Diana;
    • Bennett, Christopher;
    • Briggs, Tracy;
    • Bijlsma, Emilia K.;
    • Clayton‐Smith, Jill;
    • Constantinou, Panayiotis;
    • Foulds, Nicola;
    • Jarvis, Joanna;
    • Jewell, Rosalyn;
    • Johnson, Diana S.;
    • McEntagart, Meriel;
    • Parker, Michael J.;
    • Radley, Jessica A.;
    • Robertson, Lisa;
    • Ruivenkamp, Claudia;
    • Rutten, Julie W.;
    • Tellez, James;
    • Turnpenny, Peter D.;
    • Wilson, Valerie
    Publication type:
    Article
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    Expanding the neurodevelopmental phenotype of PURA syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
    By:
    • Lee, Bo Hoon;
    • Reijnders, Margot R. F.;
    • Abubakare, Oluwatobi;
    • Tuttle, Emily;
    • Lape, Brynn;
    • Minks, Kelly Q.;
    • Stodgell, Christopher;
    • Bennetto, Loisa;
    • Kwon, Jennifer;
    • Fong, Chin‐To;
    • Gripp, Karen W.;
    • Marsh, Eric D.;
    • Smith, Wendy E.;
    • Huq, Ahm M.;
    • Coury, Stephanie A.;
    • Tan, Wen‐Hann;
    • Solis, Orestes;
    • Mehta, Rupal I.;
    • Leventer, Richard J.;
    • Baralle, Diana
    Publication type:
    Article
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    PMS2 Mutations in Childhood Cancer.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 5, p. 358, doi. 10.1093/jnci/djj073
    By:
    • De Vos, Michel;
    • Hayward, Bruce E.;
    • Chariton, Ruth;
    • Taylor, Graham R.;
    • Glaser, Adam W.;
    • Picton, Susan;
    • Cole, Trevor R.;
    • Maher, Eamonn R.;
    • McKeown, Carole M. E.;
    • Mann, Jill R.;
    • Yates, John R.;
    • Baralle, Diana;
    • Rankin, Julia;
    • Bonthron, David T.;
    • Sheridan, Eamonn
    Publication type:
    Article
    21
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    Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 638, doi. 10.1002/ajmg.c.31750
    By:
    • Ostrowski, Philip J.;
    • Zachariou, Anna;
    • Loveday, Chey;
    • Baralle, Diana;
    • Blair, Edward;
    • Douzgou, Sofia;
    • Field, Michael;
    • Foster, Alison;
    • Kyle, Claire;
    • Lachlan, Katherine;
    • Mansour, Sahar;
    • Naik, Swati;
    • Rea, Gillian;
    • Smithson, Sarah;
    • Sznajer, Yves;
    • Thompson, Elizabeth;
    • Cole, Trevor;
    • Tatton‐Brown, Katrina
    Publication type:
    Article
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    RBFOX2 protein domains and cellular activities.

    Published in:
    Biochemical Society Transactions, 2014, v. 42, n. 4, p. 1180, doi. 10.1042/BST20140050
    By:
    • Arya, Anurada D.;
    • Wilson, David I.;
    • Baralle, Diana;
    • Raponi, Michaela
    Publication type:
    Article
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    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01087-x
    By:
    • Blakes, Alexander J. M.;
    • Wai, Htoo A.;
    • Davies, Ian;
    • Moledina, Hassan E.;
    • Ruiz, April;
    • Thomas, Tessy;
    • Bunyan, David;
    • Thomas, N. Simon;
    • Burren, Christine P.;
    • Greenhalgh, Lynn;
    • Lees, Melissa;
    • Pichini, Amanda;
    • Smithson, Sarah F.;
    • Taylor Tavares, Ana Lisa;
    • O'Donovan, Peter;
    • Douglas, Andrew G. L.;
    • Whiffin, Nicola;
    • Baralle, Diana;
    • Lord, Jenny
    Publication type:
    Article
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    A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49368-7
    By:
    • O'Gorman, Luke;
    • Norman, Chelsea S.;
    • Michaels, Luke;
    • Newall, Tutte;
    • Crosby, Andrew H.;
    • Mattocks, Christopher;
    • Cree, Angela J.;
    • Lotery, Andrew J.;
    • Baple, Emma L.;
    • Ratnayaka, J. Arjuna;
    • Baralle, Diana;
    • Lee, Helena;
    • Osborne, Daniel;
    • Shawkat, Fatima;
    • Gibson, Jane;
    • Ennis, Sarah;
    • Self, Jay E.
    Publication type:
    Article
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    Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.988685
    By:
    • Penrice-Randal, Rebekah;
    • Xiaofeng Dong;
    • Shapanis, Andrew George;
    • Gardner, Aaron;
    • Harding, Nicholas;
    • Legebeke, Jelmer;
    • Lord, Jenny;
    • Vallejo, Andres F.;
    • Poole, Stephen;
    • Brendish, Nathan J.;
    • Hartley, Catherine;
    • Williams, Anthony P.;
    • Wheway, Gabrielle;
    • Polak, Marta E.;
    • Strazzeri, Fabio;
    • Schofield, James P. R.;
    • Skipp, Paul J.;
    • Hiscox, Julian A.;
    • Clark, Tristan W.;
    • Baralle, Diana
    Publication type:
    Article
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    Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00275-9
    By:
    • Lin, Siying;
    • Sanchez-Bretaño, Aida;
    • Leslie, Joseph S.;
    • Williams, Katie B.;
    • Lee, Helena;
    • Thomas, N. Simon;
    • Callaway, Jonathan;
    • Deline, James;
    • Ratnayaka, J. Arjuna;
    • Baralle, Diana;
    • Schmitt, Melanie A.;
    • Norman, Chelsea S.;
    • Hammond, Sheri;
    • Harlalka, Gaurav V.;
    • Ennis, Sarah;
    • Cross, Harold E.;
    • Wenger, Olivia;
    • Crosby, Andrew H.;
    • Baple, Emma L.;
    • Self, Jay E.
    Publication type:
    Article
    49

    Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19.

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.853265
    By:
    • Legebeke, Jelmer;
    • Lord, Jenny;
    • Penrice-Randal, Rebekah;
    • Vallejo, Andres F.;
    • Poole, Stephen;
    • Brendish, Nathan J.;
    • Dong, Xiaofeng;
    • Hartley, Catherine;
    • Holloway, John W.;
    • Lucas, Jane S.;
    • Williams, Anthony P.;
    • Wheway, Gabrielle;
    • Strazzeri, Fabio;
    • Gardner, Aaron;
    • Schofield, James P. R.;
    • Skipp, Paul J.;
    • Hiscox, Julian A.;
    • Polak, Marta E.;
    • Clark, Tristan W.;
    • Baralle, Diana
    Publication type:
    Article