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Author/Creator van der Smagt, Jasper

1. A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle‐specific genes. (2nd March 2015)

Authors:
Harakalova, Magdalena; Kummeling, Gijs; Sammani, Arjan; Linschoten, Marijke; Baas, Annette F.; van der Smagt, Jasper; Doevendans, Pieter A.; van Tintelen, J. Peter; Dooijes, Dennis; Mokry, Michal; Asselbergs, Folkert W.
Journal:
European journal of heart failure
Issue:
Volume 17:Number 5(2015)
Page Start:
484
Record Type:
Journal Article
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2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
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3. European Respiratory Society statement on familial pulmonary fibrosis. Issue 3 (16th March 2023)

Authors:
Borie, Raphael; Kannengiesser, Caroline; Antoniou, Katerina; Bonella, Francesco; Crestani, Bruno; Fabre, Aurélie; Froidure, Antoine; Galvin, Liam; Griese, Matthias; Grutters, Jan C.; Molina-Molina, Maria; Poletti, Venerino; Prasse, Antje; Renzoni, Elisabetta; van der Smagt, Jasper; van Moorsel, C...
Journal:
European respiratory journal
Issue:
Volume 61:Issue 3(2023)
Page Start:
Record Type:
Journal Article
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4. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017)

Authors:
Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ...
Journal:
Journal of neurogenetics
Issue:
Volume 31:Number 1/2(2017)
Page Start:
30
Record Type:
Journal Article
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5. Genetic testing in interstitial lung disease: An international survey. Issue 9 (2nd June 2022)

Authors:
Terwiel, Michelle; Borie, Raphael; Crestani, Bruno; Galvin, Liam; Bonella, Francesco; Fabre, Aurelie; Froidure, Antoine; Griese, Matthias; Grutters, Jan C.; Johannson, Kerri; Kannengiesser, Caroline; Kawano‐Dourado, Leticia; Molina‐Molina, Maria; Prasse, Antje; Renzoni, Elisabetta A.; van der Sma...
Journal:
Respirology
Issue:
Volume 27:Issue 9(2022)
Page Start:
747
Record Type:
Journal Article
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6. Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders. Issue 6 (24th October 2019)

Authors:
Kang, Seok Kyu; Vanoye, Carlos G.; Misra, Sunita N.; Echevarria, Dennis M.; Calhoun, Jeffrey D.; O'Connor, John B.; Fabre, Katarina L.; McKnight, Dianalee; Demmer, Laurie; Goldenberg, Paula; Grote, Lauren E.; Thiffault, Isabelle; Saunders, Carol; Strauss, Kevin A.; Torkamani, Ali; van der Smagt, ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 6(2019)
Page Start:
899
Record Type:
Journal Article
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