Paediatric genomics: diagnosing rare disease in children
Wright, Caroline F., FitzPatrick, David R., Firth, Helen V.
Published in Nature reviews. Genetics (01.05.2018)
Published in Nature reviews. Genetics (01.05.2018)
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui, Gecz, Jozef, Martin, Nicholas G., Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Published in Nature (London) (01.10.2018)
Published in Nature (London) (01.10.2018)
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Srivastava, Siddharth, Love-Nichols, Jamie A., Dies, Kira A., Ledbetter, David H., Martin, Christa L., Chung, Wendy K., Firth, Helen V., Frazier, Thomas, Hansen, Robin L., Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Challenges of using whole genome sequencing in population newborn screening
Horton, Rachel, Wright, Caroline F, Firth, Helen V, Turnbull, Clare, Lachmann, Robin, Houlston, Richard S, Lucassen, Anneke
Published in BMJ (Online) (05.03.2024)
Published in BMJ (Online) (05.03.2024)
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De novo mutations in regulatory elements in neurodevelopmental disorders
Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Published in Nature (London) (29.03.2018)
Published in Nature (London) (29.03.2018)
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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone U.S., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, Thabo Michael, Rehm, Heidi L.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
Foreman, Julia, Brent, Simon, Perrett, Daniel, Bevan, Andrew P., Hunt, Sarah E., Cunningham, Fiona, Hurles, Matthew E., Firth, Helen V.
Published in Human mutation (01.06.2022)
Published in Human mutation (01.06.2022)
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Population screening requires robust evidence—genomics is no exception
Turnbull, Clare, Firth, Helen V, Wilkie, Andrew O M, Newman, William, Raymond, F Lucy, Tomlinson, Ian, Lachmann, Robin, Wright, Caroline F, Wordsworth, Sarah, George, Angela, McCartney, Margaret, Lucassen, Anneke
Published in The Lancet (British edition) (10.02.2024)
Published in The Lancet (British edition) (10.02.2024)
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A cellular census of human lungs identifies novel cell states in health and in asthma
Vieira Braga, Felipe A., Kar, Gozde, Berg, Marijn, Carpaij, Orestes A., Polanski, Krzysztof, Simon, Lukas M., Brouwer, Sharon, Gomes, Tomás, Hesse, Laura, Jiang, Jian, Fasouli, Eirini S., Efremova, Mirjana, Vento-Tormo, Roser, Talavera-López, Carlos, Jonker, Marnix R., Affleck, Karen, Palit, Subarna, Strzelecka, Paulina M., Firth, Helen V., Mahbubani, Krishnaa T., Cvejic, Ana, Meyer, Kerstin B., Saeb-Parsy, Kourosh, Luinge, Marjan, Brandsma, Corry-Anke, Timens, Wim, Angelidis, Ilias, Strunz, Maximilian, Koppelman, Gerard H., van Oosterhout, Antoon J., Schiller, Herbert B., Theis, Fabian J., van den Berge, Maarten, Nawijn, Martijn C., Teichmann, Sarah A.
Published in Nature medicine (01.07.2019)
Published in Nature medicine (01.07.2019)
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Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Wright, Caroline F, McRae, Jeremy F, Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W, Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
FIRTH, Helen V, RICHARDS, Shola M, BEVAN, A. Paul, CLAYTON, Stephen, CORPAS, Manuel, RAJAN, Diana, VAN VOOREN, Steven, MOREAU, Yves, PETTETT, Roger M, CARTER, Nigel P
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Quantifying the contribution of recessive coding variation to developmental disorders
Martin, Hilary C, Jones, Wendy D, McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D, Jones, Carla P, Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Bassett, Andrew, Gerety, Sebastian S, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C
Published in Science (American Association for the Advancement of Science) (07.12.2018)
Published in Science (American Association for the Advancement of Science) (07.12.2018)
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Contribution of retrotransposition to developmental disorders
Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Published in Nature communications (11.10.2019)
Published in Nature communications (11.10.2019)
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A framework for an evidence-based gene list relevant to autism spectrum disorder
Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.
Published in Nature reviews. Genetics (01.06.2020)
Published in Nature reviews. Genetics (01.06.2020)
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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
Bragin, Eugene, Chatzimichali, Eleni A, Wright, Caroline F, Hurles, Matthew E, Firth, Helen V, Bevan, A Paul, Swaminathan, G Jawahar
Published in Nucleic acids research (01.01.2014)
Published in Nucleic acids research (01.01.2014)
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The Deciphering Developmental Disorders (DDD) study
FIRTH, HELEN V, WRIGHT, CAROLINE F
Published in Developmental medicine and child neurology (01.08.2011)
Published in Developmental medicine and child neurology (01.08.2011)
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Thormann, Anja, Halachev, Mihail, McLaren, William, Moore, David J., Svinti, Victoria, Campbell, Archie, Kerr, Shona M., Tischkowitz, Marc, Hunt, Sarah E., Dunlop, Malcolm G., Hurles, Matthew E., Wright, Caroline F., Firth, Helen V., Cunningham, Fiona, FitzPatrick, David R.
Published in Nature communications (30.05.2019)
Published in Nature communications (30.05.2019)
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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