Publications:

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International Journal Of Molecular Sciences

Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W

Publication Date: 2021-02-03

Variant appearance in text: ABCA4: 4873C>T

PubMed Link: 33546218

Variant Present in the following documents:

• Main text
• ijms-22-01508.pdf

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 4873C>T

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.pdf

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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific Reports

Tiwari, Amit A; Bahr, Angela A; Bähr, Luzy L; Fleischhauer, Johannes J; Zinkernagel, Martin S MS; Winkler, Niklas N; Barthelmes, Daniel D; Berger, Lieselotte L; Gerth-Kahlert, Christina C; Neidhardt, John J; Berger, Wolfgang W

Publication Date: 2016-06-29

Variant appearance in text: ABCA4: 4873C>T

PubMed Link: 27353947

Variant Present in the following documents:

• Main text
• srep28755.pdf

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