Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

被引：0

作者：

Lee, Kristy ^{[1
]}

Waddell, Amber ^{[1
]}

Compton, C. Blair ^{[1
]}

Cornelis, Stephanie S. ^{[2
]}

Dameron, Amy ^{[3
]}

De Bruyne, Marieke ^{[4
,5
]}

Bauwens, Miriam ^{[4
,5
]}

Quinodoz, Mathieu ^{[6
,7
]}

Lenassi, Eva ^{[8
,9
]}

Jamieson, Robyn ^{[10
,11
]}

Dhaenhens, Claire-Marie ^{[12
]}

Vincent, Andrea L. ^{[13
]}

Fahim, Abby T. ^{[14
]}

Cremers, Frans ^{[2
]}

De Baere, Elfride ^{[15
]}

Hufnagel, Robert ^{[16
,17
]}

机构：

[1] Univ North Carolina Chapel Hill, Genet, Chapel Hill, NC USA

[2] Radboud Univ Nijmegen Med Ctr, Human Genet, Nijmegen, Netherlands

[3] GeneDx, Gaithersburg, MD USA

[4] Univ Ghent, Biomol Med, Ghent, Belgium

[5] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[6] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland

[7] Univ Basel, Ophthalmol, Basel, Switzerland

[8] Manchester Royal Eye Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England

[9] Univ Manchester, Sch Biol Sci, Manchester, Lancs, England

[10] Univ Sydney, Eye Genet Res Unit, Sydney, NSW, Australia

[11] Univ Sydney, Childrens Med Res Inst, Sydney, NSW, Australia

[12] Univ Lille, INSERM, Lille, Hauts De France, France

[13] Univ Auckland, Ophthalmol, Auckland, New Zealand

[14] Univ Michigan, Ophthalmol & Visual Sci, Ann Arbor, MI 48109 USA

[15] Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium

[16] Kaiser Permanente, Genet, Honolulu, HI USA

[17] Kaiser Permanente, Pathol, Honolulu, HI USA

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024年 / 65卷 / 07期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

452

引用

页数：3

共 3 条

[1] Optimizing Variant Curation Guidelines to Improve Clinical Genetic Testing for RPE65 Retinopathies Utilizing the ClinGen Framework
Lee, Kristy
Ross, Justyne
Hankey, William
Webster, Andrew R.
Sullivan, Lori S.
Duncan, Jacque L.
Ayyagari, Radha
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
[2] Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM) A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
Morales, Ana
Ing, Alexander
Antolik, Christian
Austin-Tse, Christina
Baudhuin, Linnea M.
Bronicki, Lucas
Cirino, Allison
Hawley, Megan H.
Fietz, Michael
Garcia, John
Ho, Carolyn
Ingles, Jodie
Jarinova, Olga
Johnston, Tami
Kelly, Melissa A.
Kurtz, C. Lisa
Lebo, Matt
Macaya, Daniela
Mahanta, Lisa
Maleszewski, Joseph
Manrai, Arjun K.
Murray, Mitzi
Richard, Gabriele
Semsarian, Chris
Thomson, Kate L.
Winder, Tom
Ware, James S.
Hershberger, Ray E.
Funke, Birgit H.
Vatta, Matteo
JOURNAL OF MOLECULAR DIAGNOSTICS, 2021, 23 (05): : 589 - 598
[3] Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
Cornelis, Stephanie S.
Bauwens, Miriam
Haer-Wigman, Lonneke
De Bruyne, Marieke
Pantrangi, Madhulatha
De Baere, Elfride
Hufnagel, Robert B.
Dhaenens, Claire-Marie
Cremers, Frans P. M.
HUMAN MUTATION, 2023, 2023

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