1. "Matching" consent to purpose: The example of the Matchmaker Exchange. Issue 10 (12th July 2017) Authors: 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. Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy. Issue 7 (17th May 2013) Authors: Durrington, Hannah J.; Firth, Helen V.; Patient, Charlotte; Belham, Mark; Jayne, David; Burrows, Nigel; Morrell, Nicholas W.; Chilvers, Edwin R. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research. Issue 6 (21st February 2022) Authors: Foreman, Julia; Brent, Simon; Perrett, Daniel; Bevan, Andrew P.; Hunt, Sarah E.; Cunningham, Fiona; Hurles, Matthew E.; Firth, Helen V. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Issue 10 (20th August 2015) Authors: Chatzimichali, Eleni A.; Brent, Simon; Hutton, Benjamin; Perrett, Daniel; Wright, Caroline F.; Bevan, Andrew P.; Hurles, Matthew E.; Firth, Helen V.; Swaminathan, Ganesh J. Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic testing in paediatric neurology – which test to choose?. Issue 5 (May 2021) Authors: Radford, Elizabeth J.; Parker, Alasdair P.J.; Firth, Helen V. Journal: Paediatrics and child health Issue: Volume 31:Issue 5(2021) Page Start: 195 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome. Issue 12 (10th June 2021) Authors: Acharya, Tanvi; Firth, Helen V.; Dugar, Shilpa; Grammatikopoulos, Tassos; Seabra, Luis; Walters, Angharad; Crow, Yanick J.; Parker, Alasdair P. J. Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The genetics of developmental disorders. Issue 10 (October 2019) Authors: Radford, Elizabeth J.; Firth, Helen V. Journal: Paediatrics and child health Issue: Volume 29:Issue 10(2019) Page Start: 422 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The Human Phenotype Ontology in 2017. Issue Volume 45:Issue D1(2017) (24th November 2016) Authors: Köhler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark; Foster, Erin; McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; Bello, Susan M.; Boerkoel, Cornelius F.; Boycott, Kym M.; Brudno, Michael; Buske, Orion J.; Chinnery, Patrick F.; Cipriani, Valentina; Connell, Laureen E.; Dawkins, Hugh J.S.; ... Journal: Nucleic acids research Issue: Volume 45:Issue D1(2017) Page Start: D865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Issue 10 (17th September 2015) Authors: Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Ma... Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗