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

by Foreman, Julia, Perrett, Daniel, Mazaika, Erica, Hunt, Sarah E., Ware, James S., Firth, Helen V.
Published in Annu Rev Genomics Hum Genet (2023)

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

by Josephs, Katherine S, Berner, Alison, George, Angela, Scott, Richard H, Firth, Helen V, Tatton-Brown, Katrina
Published in 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

by Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM
Published 2010

Potential research participants support the return of raw sequence data

by Middleton, Anna, Wright, Caroline F, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Parker, Michael
Published in J Med Genet (2015)

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
Published in Eur J Hum Genet (2016)

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.
Published in Genet Med (2020)

Genomic variant sharing: a position statement

by Wright, Caroline F., Ware, James S., Lucassen, Anneke M., Hall, Alison, Middleton, Anna, Rahman, Nazneen, Ellard, Sian, Firth, Helen V.
Published in Wellcome Open Res (2019)

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
Published 2014

Returning genome sequences to research participants: Policy and practice

by Wright, Caroline F., Middleton, Anna, Barrett, Jeffrey C., Firth, Helen V., FitzPatrick, David R., Hurles, Matthew E., Parker, Michael
Published in Wellcome Open Res (2017)

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.
Published in Hum Mutat (2015)

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

by 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.
Published 2012

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.
Published in Hum Mol Genet (2016)

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

by 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.
Published in Hum Mutat (2017)

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

by 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
Published 2007

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, Vooren, Steven Van, Moreau, Yves, Pettett, Roger M., Carter, Nigel P.
Published 2009

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

by 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.
Published in Genome Res (2019)

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.
Published in Nature (2018)

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

by 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
Published 2009

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

by 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
Published in Am J Med Genet A (2012)

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

by 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
Published 2010