Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 2932G>A; Gly978Ser; rs61749452

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: 2932G>A

PubMed Link: 33546218

Variant Present in the following documents:

• Main text
• ijms-22-01508.pdf

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Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Reich, Michael M; Lübke, Jan J; Joachimsen, Lutz L; Stifter, Julia J; Küchlin, Sebastian S; Böhringer, Daniel D; Lange, Clemens C; Lagrèze, Wolf A WA

Publication Date: 2021-06

Variant appearance in text: STGD: 2932G>A

PubMed Link: 33185728

Variant Present in the following documents:

• Main text
• 417_2020_Article_4992.pdf

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Characterisation of vascular changes in different stages of Stargardt disease using double swept-source optical coherence tomography angiography.

Bmj Open Ophthalmology

Reich, Michael M; Glatz, Andreas A; Cakir, Bertan B; Böhringer, Daniel D; Lang, Stefan S; Küchlin, Sebastian S; Joachimsen, Lutz L; Lagreze, Wolf W; Agostini, Hansjuergen T HT; Lange, Clemens C

Publication Date: 2019

Variant appearance in text: STGD: Gly978Ser

PubMed Link: 31799409

Variant Present in the following documents:

• Main text
• bmjophth-2019-000318.pdf

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