Congenital Limb Deficiencies in Hungary. Genetic and Teratologic Epidemiological Studies

door Firth, Helen
Gepubliceerd in 1996

The Effects of Drugs on the Fetus and Nursing Infant

door Firth, Helen
Gepubliceerd in 1996

Side effects of benoxaprofen

door Firth, Helen, Wilcock, G K, Esiri, Margaret
Gepubliceerd in 1982

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

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

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

door Josephs, Katherine S, Berner, Alison, George, Angela, Scott, Richard H, Firth, Helen V, Tatton-Brown, Katrina
Gepubliceerd 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

door Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM
Gepubliceerd in 2010

Potential research participants support the return of raw sequence data

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

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

door Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael
Gepubliceerd in Eur J Hum Genet (2016)

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

door Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Gepubliceerd in Genet Med (2020)

Genomic variant sharing: a position statement

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

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

door Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Gepubliceerd in 2014

Returning genome sequences to research participants: Policy and practice

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

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

door Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Gepubliceerd in Hum Mutat (2015)

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

door 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.
Gepubliceerd in 2012

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

door Laskowski, Roman A., Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M., Firth, Helen V., Wright, Caroline F.
Gepubliceerd in Hum Mol Genet (2016)

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

door 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.
Gepubliceerd in Hum Mutat (2017)

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

door 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
Gepubliceerd in 2007

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

door 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.
Gepubliceerd in 2009

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

door 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.
Gepubliceerd in Genome Res (2019)

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

door French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Gepubliceerd in Intensive Care Med (2019)