Publications:

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human Mutation

Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM

Publication Date: 2022-10-19

Variant appearance in text: ABCA4: 834del; Asp279Ilefs*21

PubMed Link: 36259723

Variant Present in the following documents:

• Main text
• HUMU-43-2234-s006.xlsx, sheet 1
• HUMU-43-2234-s009.xlsx, sheet 1
• HUMU-43-2234.pdf
• HUMU-43-2234-s014.xlsx, sheet 1
• HUMU-43-2234-s001.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: 834delT

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Israel Journal Of Health Policy Research

Zlotogora, Joël J

Publication Date: 2019-12-16

Variant appearance in text: ABCA4: 834delT

PubMed Link: 31839005

Variant Present in the following documents:

• 13584_2019_345_MOESM1_ESM.xlsx, sheet 3

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 834delT

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp005.pdf
• bjophthalmol-2018-312064supp004.pdf

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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

Plos One

Nishiguchi, Koji M KM; Rivolta, Carlo C

Publication Date: 2012

Variant appearance in text: ABCA4: 834delT

PubMed Link: 22848652

Variant Present in the following documents:

• Main text
• pone.0041902.pdf

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