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Author/Creator Hurles, Matthew E.

1. Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. Issue 3 (3rd February 2016)

Authors:
Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
670
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease. Issue 5 (11th April 2013)

Authors:
Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al Turki, Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin; Vinke, Tobias; Toenshoff, Burkhard; Di Donato, Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radova...
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
714
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
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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
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7. 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) ↗