Publications:

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Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical Genetics

Thorsteinsson, Daniel A DA; Stefansdottir, Vigdis V; Eysteinsson, Thor T; Thorisdottir, Sigridur S; Jonsson, Jon J JJ

Publication Date: 2021-08

Variant appearance in text: N/A

PubMed Link: 33851411

Variant Present in the following documents:

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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: V256V

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCA4: V256V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: Val256Val

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.pdf

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Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Ophthalmology

Khan, Kamron N KN; Kasilian, Melissa M; Mahroo, Omar A R OAR; Tanna, Preena P; Kalitzeos, Angelos A; Robson, Anthony G AG; Tsunoda, Kazushige K; Iwata, Takeshi T; Moore, Anthony T AT; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2018-05

Variant appearance in text: STGD1: Val256Val

PubMed Link: 29310964

Variant Present in the following documents:

• mmc2.pdf

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

European Journal Of Human Genetics : Ejhg

Shanks, Morag E ME; Downes, Susan M SM; Copley, Richard R RR; Lise, Stefano S; Broxholme, John J; Hudspith, Karl Az KA; Kwasniewska, Alexandra A; Davies, Wayne Il WI; Hankins, Mark W MW; Packham, Emily R ER; Clouston, Penny P; Seller, Anneke A; Wilkie, Andrew Om AO; Taylor, Jenny C JC; Ragoussis, Jiannis J; Németh, Andrea H AH

Publication Date: 2013-03

Variant appearance in text: ABCA4: V256V

PubMed Link: 22968130

Variant Present in the following documents:

• Main text

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Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

Human Molecular Genetics

Schindler, Emily I EI; Nylen, Erik L EL; Ko, Audrey C AC; Affatigato, Louisa M LM; Heggen, Andrew C AC; Wang, Kai K; Sheffield, Val C VC; Stone, Edwin M EM

Publication Date: 2010-10-01

Variant appearance in text: ABCA4: Val256Val

PubMed Link: 20647261

Variant Present in the following documents:

• Main text
• ddq284.pdf
• supp_ddq284_ddq284supp_Table.xls, sheet 1

View BVdb publication page

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