Publications:

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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: 4248C>A; Phe1416Leu; rs1480701186

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: F1416L

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Cold Spring Harbor Molecular Case Studies

Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-08

Variant appearance in text: STGD1: 4248C>A

PubMed Link: 29848554

Variant Present in the following documents:

• Main text
• MCS002733Zer.pdf

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: ABCA4: 4248C>A; Phe1416Leu

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

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Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics

Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 4248C>A

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

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Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science

Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R

Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 4248C>A

PubMed Link: 21911583

Variant Present in the following documents:

• Main text

View BVdb publication page

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