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Author/Creator Otto, Edgar A

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
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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
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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
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4. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Issue 1 (21st October 2015)

Authors:
Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, ...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 1(2016)
Page Start:
62
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Issue 2 (10th November 2010)

Authors:
Otto, Edgar A; Ramaswami, Gokul; Janssen, Sabine; Chaki, Moumita; Allen, Susan J; Zhou, Weibin; Airik, Rannar; Hurd, Toby W; Ghosh, Amiya K; Wolf, Matthias T; Hoppe, Bernd; Neuhaus, Thomas J; Bockenhauer, Detlef; Milford, David V; Soliman, Neveen A; Antignac, Corinne; Saunier, Sophie; Johnson, Co...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 2(2011)
Page Start:
105
Record Type:
Journal Article
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6. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome. Issue 10 (6th July 2007)

Authors:
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 10(2007)
Page Start:
657
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗