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Author/Creator Firth, Helen V

1. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. Issue 2 (17th December 2011)

Authors:
Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha; Slavotinek, Anne M; Cox, Victoria A; Hennekam, Raoul C; Firth, Helen V; Willatt, Lionel; Wheeler, Patricia; Morrow, Eric M; Cook, Joseph; Sullivan, Rachel; Oh, Albert; McDonald, Marie T; Zonana, Jonathan; Keller, Kory; Hannibal, Mark C; Ball, ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
110
Record Type:
Journal Article
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2. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Issue 9975 (4th April 2015)

Authors:
Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netrava...
Journal:
Lancet
Issue:
Volume 385:Issue 9975(2015)
Page Start:
1305
Record Type:
Journal Article
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3. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Issue 9975 (4th April 2015)

Authors:
Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netrava...
Journal:
Lancet
Issue:
Volume 385:Issue 9975(2015)
Page Start:
1305
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

Authors:
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
659
Record Type:
Journal Article
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6. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Issue 1 (11th October 2017)

Authors:
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, Leem...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
28
Record Type:
Journal Article
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9. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. Issue 9 (1st June 2007)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 9(2007)
Page Start:
556
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗