Rezultaty - Firth, Helen V

Annual Review of Genomics and Human Genetics: DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data od Foreman, Julia, Perrett, Daniel, Mazaika, Erica, Hunt, Sarah E., Ware, James S., Firth, Helen V.

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Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare od Josephs, Katherine S, Berner, Alison, George, Angela, Scott, Richard H, Firth, Helen V, Tatton-Brown, Katrina

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Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes od Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM

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Potential research participants support the return of raw sequence data od Middleton, Anna, Wright, Caroline F, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Parker, Michael

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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research od Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study od Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.

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Genomic variant sharing: a position statement od Wright, Caroline F., Ware, James S., Lucassen, Anneke M., Hall, Alison, Middleton, Anna, Rahman, Nazneen, Ellard, Sian, Firth, Helen V.

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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation od Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar

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Returning genome sequences to research participants: Policy and practice od Wright, Caroline F., Middleton, Anna, Barrett, Jeffrey C., Firth, Helen V., FitzPatrick, David R., Hurles, Matthew E., Parker, Michael

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome od Acharya, Tanvi, Firth, Helen V., Dugar, Shilpa, Grammatikopoulos, Tassos, Seabra, Luis, Walters, Angharad, Crow, Yanick J., Parker, Alasdair P. J.

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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research od Foreman, Julia, Brent, Simon, Perrett, Daniel, Bevan, Andrew P., Hunt, Sarah E., Cunningham, Fiona, Hurles, Matthew E., Firth, Helen V.

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Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER od Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.

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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders od Swaminathan, Ganesh J., Bragin, Eugene, Chatzimichali, Eleni A., Corpas, Manuel, Bevan, A. Paul, Wright, Caroline F., Carter, Nigel P., Hurles, Matthew E., Firth, Helen V.

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“Matching” Consent to Purpose: The Example of the Matchmaker Exchange od Dyke, Stephanie O.M., Knoppers, Bartha M., Hamosh, Ada, Firth, Helen V., Hurles, Matthew, Brudno, Michael, Boycott, Kym M., Philippakis, Anthony A., Rehm, Heidi L.

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Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children od Zahir, Farah, Firth, Helen V, Baross, Agnes, Delaney, Allen D, Eydoux, Patrice, Gibson, William T, Langlois, Sylvie, Martin, Howard, Willatt, Lionel, Marra, Marco A, Friedman, Jan M

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources od Firth, Helen V., Richards, Shola M., Bevan, A. Paul, Clayton, Stephen, Corpas, Manuel, Rajan, Diana, Vooren, Steven Van, Moreau, Yves, Pettett, Roger M., Carter, Nigel P.

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Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations od Kaplanis, Joanna, Akawi, Nadia, Gallone, Giuseppe, McRae, Jeremy F., Prigmore, Elena, Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.

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De novo mutations in regulatory elements in neurodevelopmental disorders od 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.

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients od Engels, Hartmut, Wohlleber, Eva, Zink, Alexander, Hoyer, Juliane, Ludwig, Kerstin U, Brockschmidt, Felix F, Wieczorek, Dagmar, Moog, Ute, Hellmann-Mersch, Birgit, Weber, Ruthild G, Willatt, Lionel, Kreiß-Nachtsheim, Martina, Firth, Helen V, Rauch, Anita

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Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val od Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn

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