Publications:

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Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.

Open Heart

Valtola, Kati K; Hedman, Marja M; Kantola, Ilkka I; Walls, Susanne S; Helisalmi, Seppo S; Maria, Maleeha M; Raivo, Joose J; Auray-Blais, Christiane C; Kuusisto, Johanna J

Publication Date: 2023-03

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 36927868

Variant Present in the following documents:

• openhrt-2023-002251supp001.pdf

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.pdf

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Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.

Orphanet Journal Of Rare Diseases

Dai, Xuantong X; Zong, Xue X; Pan, Xiaoxia X; Lu, Wei W; Jiang, Geng-Ru GR; Lin, Fujun F

Publication Date: 2022-06-20

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 35725559

Variant Present in the following documents:

• 13023_2022_Article_2377.pdf

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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

Clinical Genetics

Germain, Dominique P DP; Levade, Thierry T; Hachulla, Eric E; Knebelmann, Bertrand B; Lacombe, Didier D; Seguin, Vanessa Leguy VL; Nguyen, Karine K; Noël, Esther E; Rabès, Jean-Pierre JP

Publication Date: 2022-04

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 34927718

Variant Present in the following documents:

• Main text
• CGE-101-390.pdf

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Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.

Molecular Genetics And Metabolism Reports

Hopkin, Robert J RJ; Feldt-Rasmussen, Ulla U; Germain, Dominique P DP; Jovanovic, Ana A; Martins, Ana Maria AM; Nicholls, Kathleen K; Ortiz, Alberto A; Politei, Juan J; Ponce, Elvira E; Varas, Carmen C; Weidemann, Frank F; Yang, Meng M; Wilcox, William R WR

Publication Date: 2020-12

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 33163363

Variant Present in the following documents:

• Main text
• main.pdf

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Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening

Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D

Publication Date: 2020-06

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 32802993

Variant Present in the following documents:

• Main text
• IJNS-06-00044.pdf

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GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Annals Of Translational Medicine

Dong, Zhe-Yi ZY; Wang, Qian Q; Lin, Shu-Peng SP; Chen, Pu P; Liu, Jiao-Na JN; Liu, Shu-Wen SW; Cai, Guang-Yan GY; Chen, Xiang-Mei XM; Hong, Quan Q

Publication Date: 2020-07

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 32793709

Variant Present in the following documents:

• Main text

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 32161151

Variant Present in the following documents:

• Main text

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Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease.

Frontiers In Genetics

Varela, Patrícia P; Caldas, Myrtes Martins MM; Pesquero, João Bosco JB

Publication Date: 2019

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 31611903

Variant Present in the following documents:

• fgene-10-00783.pdf

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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 30850667

Variant Present in the following documents:

• 41598_2019_40571_MOESM2_ESM.xlsx, sheet 1

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Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Genes

Dardis, Andrea A; Buratti, Emanuele E

Publication Date: 2018-02-06

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 29415500

Variant Present in the following documents:

• Main text
• genes-09-00073.pdf

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Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Plos One

Mendes de Almeida, Rita R; Tavares, Joana J; Martins, Sandra S; Carvalho, Teresa T; Enguita, Francisco J FJ; Brito, Dulce D; Carmo-Fonseca, Maria M; Lopes, Luís Rocha LR

Publication Date: 2017

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 28797094

Variant Present in the following documents:

• Main text
• pone.0182946.pdf

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Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.

Molecular Therapy. Nucleic Acids

Ferri, Lorenzo L; Covello, Giuseppina G; Caciotti, Anna A; Guerrini, Renzo R; Denti, Michela Alessandra MA; Morrone, Amelia A

Publication Date: 2016-10-25

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 27779620

Variant Present in the following documents:

• Main text
• mtna201688a.pdf

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

American Journal Of Human Genetics

Amendola, Laura M LM; Jarvik, Gail P GP; Leo, Michael C MC; McLaughlin, Heather M HM; Akkari, Yassmine Y; Amaral, Michelle D MD; Berg, Jonathan S JS; Biswas, Sawona S; Bowling, Kevin M KM; Conlin, Laura K LK; Cooper, Greg M GM; Dorschner, Michael O MO; Dulik, Matthew C MC; Ghazani, Arezou A AA; Ghosh, Rajarshi R; Green, Robert C RC; Hart, Ragan R; Horton, Carrie C; Johnston, Jennifer J JJ; Lebo, Matthew S MS; Milosavljevic, Aleksandar A; Ou, Jeffrey J; Pak, Christine M CM; Patel, Ronak Y RY; Punj, Sumit S; Richards, Carolyn Sue CS; Salama, Joseph J; Strande, Natasha T NT; Yang, Yaping Y; Plon, Sharon E SE; Biesecker, Leslie G LG; Rehm, Heidi L HL

Publication Date: 2016-06-02

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 27181684

Variant Present in the following documents:

• Main text

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Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

Journal Of Inherited Metabolic Disease

Gal, Andreas A; Hughes, Derralynn A DA; Winchester, Bryan B

Publication Date: 2011-04

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 21229318

Variant Present in the following documents:

• 10545_2010_Article_9261.pdf

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Human Mutation

Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Dobrovolny, Robert R; Huang, Ai-Chu AC; Yeh, Hui-Ying HY; Chao, May-Chin MC; Lin, Shio-Jean SJ; Kitagawa, Teruo T; Desnick, Robert J RJ; Hsu, Li-Wen LW

Publication Date: 2009-10

Variant appearance in text: GLA: 639+919G>A

PubMed Link: 19621417

Variant Present in the following documents:

• Main text

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