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Author/Creator Rath, Ana

1. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Issue 6 (20th May 2022)

Authors:
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández‐Callejo, Marcos; Garcia‐Linares, Carles; Hernandez‐Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó‐Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullic...
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
717
Record Type:
Journal Article
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2. 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
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3. 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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4. Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective. Issue 1 (23rd October 2017)

Authors:
Dawkins, Hugh J.S.; Draghia‐Akli, Ruxandra; Lasko, Paul; Lau, Lilian P.L.; Jonker, Anneliene H.; Cutillo, Christine M.; Rath, Ana; Boycott, Kym M.; Baynam, Gareth; Lochmüller, Hanns; Kaufmann, Petra; Le Cam, Yann; Hivert, Virginie; Austin, Christopher P.
Journal:
Clinical and translational science
Issue:
Volume 11:Issue 1(2018)
Page Start:
11
Record Type:
Journal Article
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5. Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective. Issue 1 (23rd October 2017)

Authors:
Austin, Christopher P.; Cutillo, Christine M.; Lau, Lilian P.L.; Jonker, Anneliene H.; Rath, Ana; Julkowska, Daria; Thomson, David; Terry, Sharon F.; de Montleau, Béatrice; Ardigò, Diego; Hivert, Virginie; Boycott, Kym M.; Baynam, Gareth; Kaufmann, Petra; Taruscio, Domenica; Lochmüller, Hanns; Su...
Journal:
Clinical and translational science
Issue:
Volume 11:Issue 1(2018)
Page Start:
21
Record Type:
Journal Article
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