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Author/Creator Smedley, Damian

1. 022  Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias. Issue 6 (27th May 2022)

Authors:
Chen, Zhongbo; Cipriani, Valentina; Zhang, David; Tucci, Arianna; Vestito, Letizia; Smedley, Damian; Houlden, Henry; Botia, Juan; Ryten, Mina
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 93:Issue 6(2022)
Page Start:
A107
Record Type:
Journal Article
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2. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Issue 1 (December 2017)

Authors:
Bowl, Michael; Simon, Michelle; Ingham, Neil; Greenaway, Simon; Santos, Luis; Cater, Heather; Taylor, Sarah; Mason, Jeremy; Kurbatova, Natalja; Pearson, Selina; Bower, Lynette; Clary, Dave; Meziane, Hamid; Reilly, Patrick; Minowa, Osamu; Kelsey, Lois; Tocchini-Valentini, Glauco; Gao, Xiang; Bradl...
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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3. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation. Issue 1 (15th October 2021)

Authors:
Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Shah, Pratik; McEntagart, Meriel
Journal:
Clinical dysmorphology
Issue:
Volume 31:Issue 1(2022)
Page Start:
11
Record Type:
Journal Article
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4. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation. Issue 1 (January 2022)

Authors:
Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Shah, Pratik; McEntagart, Meriel
Journal:
Clinical dysmorphology
Issue:
Volume 31:Issue 1(2022)
Page Start:
Record Type:
Journal Article
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5. Clinical interpretation of CNVs with cross-species phenotype data. Issue 11 (3rd October 2014)

Authors:
Köhler, Sebastian; Schoeneberg, Uwe; Czeschik, Johanna Christina; Doelken, Sandra C; Hehir-Kwa, Jayne Y; Ibn-Salem, Jonas; Mungall, Christopher J; Smedley, Damian; Haendel, Melissa A; Robinson, Peter N
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
766
Record Type:
Journal Article
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6. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. (24th July 2019)

Authors:
Köhler, Sebastian; Øien, N. Christine; Buske, Orion J.; Groza, Tudor; Jacobsen, Julius O. B.; McNamara, Craig; Vasilevsky, Nicole; Carmody, Leigh C.; Gourdine, J. P.; Gargano, Michael; McMurry, Julie A.; Danis, Daniel; Mungall, Christopher J.; Smedley, Damian; Haendel, Melissa; Robinson, Peter N.
Editors:
Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
Journal:
Current protocols in human genetics
Issue:
Volume 103(2019)
Page Start:
n/a
Record Type:
Journal Article
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8. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

Authors:
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Ga...
Journal:
Nucleic acids research
Issue:
Volume 47:Issue D1(2019)
Page Start:
D1018
Record Type:
Journal Article
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9. Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project. Issue 4 (20th March 2013)

Authors:
Oetting, William S.; Robinson, Peter N.; Greenblatt, Marc S.; Cotton, Richard G.; Beck, Tim; Carey, John C.; Doelken, Sandra C.; Girdea, Marta; Groza, Tudor; Hamilton, Carol M.; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A. L.; Maglott, Donna R.; Mons, Barend; Rehm, Heidi L.; Schofield, Pa...
Journal:
Human mutation
Issue:
Volume 34:Issue 4(2013:Apr.)
Page Start:
661
Record Type:
Journal Article
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10. Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen. Issue 6 (13th June 2022)

Authors:
Wotton, Janine M.; Peterson, Emma; Flenniken, Ann M.; Bains, Rasneer S.; Veeraragavan, Surabi; Bower, Lynette R.; Bubier, Jason A.; Parisien, Marc; Bezginov, Alexandr; Haselimashhadi, Hamed; Mason, Jeremy; Moore, Michayla A.; Stewart, Michelle E.; Clary, Dave A.; Delbarre, Daniel J.; Anderson, La...
Journal:
Pain
Issue:
Volume 163:Issue 6(2022)
Page Start:
1139
Record Type:
Journal Article
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