Search Results - "Firth, Helen V."

De novo mutations in regulatory elements in neurodevelopmental disorders by 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.

“…We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo…”
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders by 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.

“…There are thousands of rare human disorders that are caused by single deleterious, protein-coding genetic variants 1 . However, patients with the same genetic…”
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DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources by 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

“…Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive…”
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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation by Bragin, Eugene, Chatzimichali, Eleni A, Wright, Caroline F, Hurles, Matthew E, Firth, Helen V, Bevan, A Paul, Swaminathan, G Jawahar

“…The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the…”
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research by Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael

“…Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant…”
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP by 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.

“…We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical…”
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Pathogenicity and selective constraint on variation near splice sites by Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

“…Mutations that perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7833 probands with…”
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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability by Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

“…To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate…”
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Importance of adopting standardized MANE transcripts in clinical reporting by Wright, Caroline F., FitzPatrick, David R., Ware, James S., Rehm, Heidi L., Firth, Helen V.

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Contribution of retrotransposition to developmental disorders by 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.

“…Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In…”
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Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation by Radford, Elizabeth J., Tan, Hong-Kee, Andersson, Malin H. L., Stephenson, James D., Gardner, Eugene J., Ironfield, Holly, Waters, Andrew J., Gitterman, Daniel, Lindsay, Sarah, Abascal, Federico, Martincorena, Iñigo, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, Firth, Helen V., Baker, Kate, Perry, John R. B., Adams, David J., Gerety, Sebastian S., Hurles, Matthew E.

“…Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed…”
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Minimum information and guidelines for reporting a multiplexed assay of variant effect by Claussnitzer, Melina, Parikh, Victoria N, Wagner, Alex H, Arbesfeld, Jeremy A, Bult, Carol J, Firth, Helen V, Muffley, Lara A, Nguyen Ba, Alex N, Riehle, Kevin, Roth, Frederick P, Tabet, Daniel, Bolognesi, Benedetta, Glazer, Andrew M, Rubin, Alan F

“…Multiplexed assays of variant effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The…”
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Evaluating variants classified as pathogenic in ClinVar in the DDD Study by Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.

“…Purpose Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate…”
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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders by Wigdor, Emilie M., Samocha, Kaitlin E., Eberhardt, Ruth Y., Chundru, V. Kartik, Firth, Helen V., Wright, Caroline F., Hurles, Matthew E., Martin, Hilary C.

“…Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we…”
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Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity by Liang, Zhengzheng S, Cimino, Irene, Yalcin, Binnaz, Raghupathy, Narayanan, Vancollie, Valerie E, Ibarra-Soria, Ximena, Firth, Helen V, Rimmington, Debra, Farooqi, I Sadaf, Lelliott, Christopher J, Munger, Steven C, O'Rahilly, Stephen, Ferguson-Smith, Anne C, Coll, Anthony P, Logan, Darren W

“…Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of…”
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Curating genomic disease-gene relationships with Gene2Phenotype (G2P) by Yates, T. Michael, Ansari, Morad, Thompson, Louise, Hunt, Sarah E, Uhalte, Elena Cibrian, Hobson, Rachel J, Marsh, Joseph A, Wright, Caroline F, Firth, Helen V

“…Abstract Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these…”
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Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER by Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.

“…ABSTRACT DECIPHER (https://decipher.sanger.ac.uk) is a web‐based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants…”
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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability by Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish

“…Recent evidence has emerged linking mutations in to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16…”
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression by Zweier, Markus, Gregor, Anne, Zweier, Christiane, Engels, Hartmut, Sticht, Heinrich, Wohlleber, Eva, Bijlsma, Emilia K, Holder, Susan E, Zenker, Martin, Rossier, Eva, Grasshoff, Ute, Johnson, Diana S, Robertson, Lisa, Firth, Helen V, Ekici, Arif B, Reis, André, Rauch, Anita

“…The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a…”
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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain by Laskowski, Roman A, Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M, Firth, Helen V, Wright, Caroline F

“…We present a generic, multidisciplinary approach for improving our understanding of novel missense variants in recently discovered disease genes exhibiting…”
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