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: 160T>G

PubMed Link: 33546218

Variant Present in the following documents:

• Main text
• ijms-22-01508.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: C54G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science

Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H

Publication Date: 2017-01-01

Variant appearance in text: STGD: 160T>G

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s05.pdf
• iovs-57-15-69_s04.pdf

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Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Investigative Ophthalmology & Visual Science

Littink, Karin W KW; Koenekoop, Robert K RK; van den Born, L Ingeborgh LI; Collin, Rob W J RW; Moruz, Luminita L; Veltman, Joris A JA; Roosing, Susanne S; Zonneveld, Marijke N MN; Omar, Amer A; Darvish, Mahshad M; Lopez, Irma I; Kroes, Hester Y HY; van Genderen, Maria M MM; Hoyng, Carel B CB; Rohrschneider, Klaus K; van Schooneveld, Mary J MJ; Cremers, Frans P M FP; den Hollander, Anneke I AI

Publication Date: 2010-11

Variant appearance in text: ABCA4: 160T>G; C54G

PubMed Link: 20554613

Variant Present in the following documents:

• Main text

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