Annual Review of Genomics and Human Genetics: DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data

Por Foreman, Julia, Perrett, Daniel, Mazaika, Erica, Hunt, Sarah E., Ware, James S., Firth, Helen V.
Publicado no Annu Rev Genomics Hum Genet (2023)

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare

Por Josephs, Katherine S, Berner, Alison, George, Angela, Scott, Richard H, Firth, Helen V, Tatton-Brown, Katrina
Publicado no Clin Med (Lond) (2019)

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

Por Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM
Publicado em 2010

Potential research participants support the return of raw sequence data

Por Middleton, Anna, Wright, Caroline F, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Parker, Michael
Publicado no J Med Genet (2015)

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Por Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael
Publicado no Eur J Hum Genet (2016)

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Por Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Publicado no Genet Med (2020)

Genomic variant sharing: a position statement

Por Wright, Caroline F., Ware, James S., Lucassen, Anneke M., Hall, Alison, Middleton, Anna, Rahman, Nazneen, Ellard, Sian, Firth, Helen V.
Publicado no Wellcome Open Res (2019)

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Por Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Publicado em 2014

Returning genome sequences to research participants: Policy and practice

Por Wright, Caroline F., Middleton, Anna, Barrett, Jeffrey C., Firth, Helen V., FitzPatrick, David R., Hurles, Matthew E., Parker, Michael
Publicado no Wellcome Open Res (2017)

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Por Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Publicado no Hum Mutat (2015)

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Por 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.
Publicado em 2012

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Por Laskowski, Roman A., Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M., Firth, Helen V., Wright, Caroline F.
Publicado no Hum Mol Genet (2016)

“Matching” Consent to Purpose: The Example of the Matchmaker Exchange

Por 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.
Publicado no Hum Mutat (2017)

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Por 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
Publicado em 2007

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Por 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.
Publicado em 2009

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Por 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.
Publicado no Genome Res (2019)

De novo mutations in regulatory elements in neurodevelopmental disorders

Por 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.
Publicado no Nature (2018)

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Por 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
Publicado em 2009

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Por 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
Publicado no Am J Med Genet A (2012)

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Por Povey, Sue, Al Aqeel, Aida I, Cambon-Thomsen, Anne, Dalgleish, Raymond, den Dunnen, Johan T, Firth, Helen V, Greenblatt, Marc S, Barash, Carol Isaacson, Parker, Michael, Patrinos, George P, Savige, Judith, Sobrido, Maria-Jesus, Winship, Ingrid, Cotton, Richard GH
Publicado em 2010