Search

Author/Creator Haimel, Matthias

1. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. Issue 9 (7th September 2021)

Authors:
Machado, Rajiv D; Welch, Carrie L; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R; Golden, William Christopher; Griffin, Emily L; Hadinnapola, Charaka; Harris, Michael A; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Noge...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
906
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. Issue 9 (7th September 2021)

Authors:
Machado, Rajiv D; Welch, Carrie L; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R; Golden, William Christopher; Griffin, Emily L; Hadinnapola, Charaka; Harris, Michael A; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Noge...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
906
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Issue 3 (March 2019)

Authors:
Rhodes, Christopher J; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B; Karnes, Jason H; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars;...
Journal:
Lancet
Issue:
Volume 7:Issue 3(2019)
Page Start:
227
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. (October 2018)

Authors:
Bohnen, Michael S.; Ma, Lijiang; Zhu, Na; Qi, Hongjian; McClenaghan, Conor; Gonzaga-Jauregui, Claudia; Dewey, Frederick E.; Overton, John D.; Reid, Jeffrey G.; Shuldiner, Alan R.; Baras, Aris; Sampson, Kevin J.; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Bogaard, Harm J.; Church, Colin...
Journal:
Circulation
Issue:
Volume 11:Number 10(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017)

Authors:
Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P...
Journal:
Circulation
Issue:
Volume 136:Issue 21(2017)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension. Issue 5 (31st January 2017)

Authors:
Rhodes, Christopher J.; Ghataorhe, Pavandeep; Wharton, John; Rue-Albrecht, Kevin C.; Hadinnapola, Charaka; Watson, Geoffrey; Bleda, Marta; Haimel, Matthias; Coghlan, Gerry; Corris, Paul A.; Howard, Luke S.; Kiely, David G.; Peacock, Andrew J.; Pepke-Zaba, Joanna; Toshner, Mark R.; Wort, S. John; ...
Journal:
Circulation
Issue:
Volume 135:Issue 5(2017)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. The Human Phenotype Ontology in 2021. Issue Volume 49:Issue D1(2021) (2nd December 2020)

Authors:
Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C; Lewis-Smith, David; Vasilevsky, Nicole A; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M; Callahan, Tiffany J; Chute, Christopher G; Est, Johanna L; Galer, Peter D; Ganesan, Shiva; Griese, Matthias; Haimel...
Journal:
Nucleic acids research
Issue:
Volume 49:Issue D1(2021)
Page Start:
D1207
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis. Issue 5 (30th May 2019)

Authors:
Sofianopoulou, Eleni; Kaptoge, Stephen; Gräf, Stefan; Hadinnapola, Charaka; Treacy, Carmen M.; Church, Colin; Coghlan, Gerry; Gibbs, J. Simon R.; Haimel, Matthias; Howard, Luke S.; Johnson, Martin; Kiely, David G.; Lawrie, Allan; Lordan, James; MacKenzie Ross, Robert V.; Martin, Jennifer M.;...
Journal:
European respiratory journal
Issue:
Volume 53:Issue 5(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗