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Author/Creator Porath, Jonathan D

1. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Issue 12 (27th November 2012)

Authors:
Halbritter, Jan; Diaz, Katrina; Chaki, Moumita; Porath, Jonathan D; Tarrier, Brendan; Fu, Clementine; Innis, Jamie L; Allen, Susan J; Lyons, Robert H; Stefanidis, Constantinos J; Omran, Heymut; Soliman, Neveen A; Otto, Edgar A
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
756
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015)

Authors:
Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 10(2015)
Page Start:
657
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Issue 3 (16th December 2015)

Authors:
Schueler, Markus; Halbritter, Jan; Phelps, Ian G; Braun, Daniela A; Otto, Edgar A; Porath, Jonathan D; Gee, Heon Yung; Shendure, Jay; O'Roak, Brian J; Lawson, Jennifer A; Nabhan, Marwa M; Soliman, Neveen A; Doherty, Dan; Hildebrandt, Friedhelm
Other Names:
Yalcinkaya F author non-byline.; Bakkaloglu S author non-byline.; Ozaltin F author non-byline.; Comak E author non-byline.; Krull F author non-byline.; Schmitz-Hübner author non-byline.; Rupprecht H author non-byline.; Muller D author non-byline.; Dahlem P author non-byline.; Hoppe B author non-b...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
208
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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