Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCA4: H142Y; rs1085307835

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Genes

Oishi, Akio A; Fujinami, Kaoru K; Mawatari, Go G; Naoi, Nobuhisa N; Ikeda, Yasuhiro Y; Ueno, Shinji S; Kuniyoshi, Kazuki K; Hayashi, Takaaki T; Kondo, Hiroyuki H; Mizota, Atsushi A; Shinoda, Kei K; Kusuhara, Sentaro S; Nakamura, Makoto M; Iwata, Takeshi T; Tsujikawa, Akitaka A; Tsunoda, Kazushige K

Publication Date: 2021-11-18

Variant appearance in text: STGD: 424C>T

PubMed Link: 34828423

Variant Present in the following documents:

• Main text

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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: 424C>T

PubMed Link: 33546218

Variant Present in the following documents:

• ijms-22-01508.pdf

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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

Molecular Vision

van Huet, Ramon A C RA; Pierrache, Laurence H M LH; Meester-Smoor, Magda A MA; Klaver, Caroline C W CC; van den Born, L Ingeborgh LI; Hoyng, Carel B CB; de Wijs, Ilse J IJ; Collin, Rob W J RW; Hoefsloot, Lies H LH; Klevering, B Jeroen BJ

Publication Date: 2015

Variant appearance in text: ABCA4: 424C>T

PubMed Link: 25999674

Variant Present in the following documents:

• Main text

View BVdb publication page