Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A
Published in Heart (British Cardiac Society) (01.10.2010)
Published in Heart (British Cardiac Society) (01.10.2010)
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Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
Euro, Liliya, Konovalova, Svetlana, Asin-Cayuela, Jorge, Tulinius, Már, Griffin, Helen, Horvath, Rita, Taylor, Robert W, Chinnery, Patrick F, Schara, Ulrike, Thorburn, David R, Suomalainen, Anu, Chihade, Joseph, Tyynismaa, Henna
Published in Frontiers in genetics (06.02.2015)
Published in Frontiers in genetics (06.02.2015)
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Journal Article
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation
Griffin, Helen R, Hall, Darroch H, Topf, Ana, Eden, James, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John E, O'Sullivan, John, Babu-Narayan, Sonya V, Gatzoulis, Michael A, Bu'lock, Frances A, Bhattacharya, Shoumo, Bentham, Jamie, Farrall, Martin, Granados Riveron, Javier, Brook, J David, Burn, John, Cordell, Heather J, Goodship, Judith A, Keavney, Bernard
Published in PloS one (24.03.2009)
Published in PloS one (24.03.2009)
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Journal Article
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
Dang, Tarana Singh, Willet, Joseph D. P., Griffin, Helen R., Morgan, Neil V., O’Boyle, Graeme, Arkwright, Peter D., Hughes, Stephen M., Abinun, Mario, Tee, Louise J., Barge, Dawn, Engelhardt, Karin R., Jackson, Michael, Cant, Andrew J., Maher, Eamonn R., Koref, Mauro Santibanez, Reynard, Louise N., Ali, Simi, Hambleton, Sophie
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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Journal Article
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA
Yarham, John W, Lamichhane, Tek N, Pyle, Angela, Mattijssen, Sandy, Baruffini, Enrico, Bruni, Francesco, Donnini, Claudia, Vassilev, Alex, He, Langping, Blakely, Emma L, Griffin, Helen, Santibanez-Koref, Mauro, Bindoff, Laurence A, Ferrero, Ileana, Chinnery, Patrick F, McFarland, Robert, Maraia, Richard J, Taylor, Robert W
Published in PLoS genetics (01.06.2014)
Published in PLoS genetics (01.06.2014)
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Massive Gulf of California diatom blooms mark silica boost from the Southern Ocean and intensification of El Niño and the North American monsoon in the transition to Greenland interstadial 12
Griffin, Helen, Kemp, Alan E.S., Pearce, Richard B.
Published in Quaternary science reviews (01.11.2024)
Published in Quaternary science reviews (01.11.2024)
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Journal Article
Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing
PYLE, Angela, GRIFFIN, Helen, YU-WAI-MAN, Patrick, DUFF, Jennifer, EGLON, Gail, PICKERING-BROWN, Stuart, SANTIBANEZ-KOREV, Mauro, HORVATH, Rita, CHINNERY, Patrick F
Published in Archives of neurology (Chicago) (01.10.2012)
Published in Archives of neurology (Chicago) (01.10.2012)
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Journal Article
Exome sequencing in undiagnosed inherited and sporadic ataxias
Pyle, Angela, Smertenko, Tania, Bargiela, David, Griffin, Helen, Duff, Jennifer, Appleton, Marie, Douroudis, Konstantinos, Pfeffer, Gerald, Santibanez-Koref, Mauro, Eglon, Gail, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Chinnery, Patrick F
Published in Brain (London, England : 1878) (01.02.2015)
Published in Brain (London, England : 1878) (01.02.2015)
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Journal Article
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency
Gothe, Florian, Stremenova Spegarova, Jarmila, Hatton, Catherine F, Griffin, Helen, Sargent, Thomas, Cowley, Sally A, James, William, Roppelt, Anna, Shcherbina, Anna, Hauck, Fabian, Reyburn, Hugh T, Duncan, Christopher J A, Hambleton, Sophie
Published in Journal of allergy and clinical immunology (01.10.2022)
Published in Journal of allergy and clinical immunology (01.10.2022)
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Journal Article
Genetic heterogeneity of motor neuropathies
Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G, Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F, Horvath, Rita
Published in Neurology (28.03.2017)
Published in Neurology (28.03.2017)
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Journal Article
SPG7 mutations are a common cause of undiagnosed ataxia
Pfeffer, Gerald, Pyle, Angela, Griffin, Helen, Miller, Jack, Wilson, Valerie, Turnbull, Lisa, Fawcett, Katherine, Sims, David, Eglon, Gail, Hadjivassiliou, Marios, Horvath, Rita, Németh, Andrea, Chinnery, Patrick F
Published in Neurology (17.03.2015)
Published in Neurology (17.03.2015)
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita
Published in Human molecular genetics (01.04.2018)
Published in Human molecular genetics (01.04.2018)
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Journal Article
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease
Griffin, Helen, Ceron-Gutierrez, Lourdes, Gharahdaghi, Nima, Ebrahimi, Soraya, Davies, Sophie, Loo, Peh Sun, Szabo, Andras, Williams, Eleri, Mukhopadhyay, Anirban, McLoughlin, Louise, Irwin, Steven, Travis, Simon, Klenerman, Paul, Bunn, Su, Cant, Andrew J, Hambleton, Sophie, Uhlig, Holm H, Doffinger, Rainer
Published in The New England journal of medicine (01.08.2024)
Published in The New England journal of medicine (01.08.2024)
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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
Stremenova Spegarova, Jarmila, Sinnappurajar, Praisoody, Al Julandani, Dalila, Navickas, Rokas, Griffin, Helen, Ahuja, Manisha, Grainger, Angela, Livingstone, Katie, Rice, Gillian I, Sutherland, Fraser, Hayes, Corinne, Parke, Simon, Pang, Lewis, Roderick, Marion R, Slatter, Mary, Crow, Yanick, Ramanan, Athimalaipet V, Hambleton, Sophie
Published in The Journal of clinical investigation (01.07.2024)
Published in The Journal of clinical investigation (01.07.2024)
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Journal Article
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Tsilifis, Christo, Spegarova, Jarmila Stremenova, Good, Ross, Griffin, Helen, Engelhardt, Karin R., Graham, Sophie, Hughes, Stephen, Arkwright, Peter D., Hambleton, Sophie, Gennery, Andrew R.
Published in Journal of clinical immunology (01.04.2024)
Published in Journal of clinical immunology (01.04.2024)
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Journal Article
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L., Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L., Alston, Charlotte L., Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H., Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R., Jaiser, Stephan R., Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M., Turnbull, Douglass M., Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F.
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita
Published in Nature communications (03.07.2014)
Published in Nature communications (03.07.2014)
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
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