Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GAA: 546G>T; Thr182=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clonal dynamics of haematopoiesis across the human lifespan.

Nature

Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ

Publication Date: 2022-06

Variant appearance in text: GAA: T182T

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs143523371

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs143523371

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2021-12-18

Variant appearance in text: rs143523371

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.pdf

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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

Niño, Monica Y MY; In't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Hoogeveen-Westerveld, Marianne M; van den Hout, Hannerieke J M P HJMP; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-11

Variant appearance in text: GAA: 546G>T

PubMed Link: 34405923

Variant Present in the following documents:

• HUMU-42-1461.pdf

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Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 546G>T; Thr182=

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Life (Basel, Switzerland)

Gal, Aniko A; Grosz, Zoltán Z; Borsos, Beata B; Szatmari, Ildikó I; Sebők, Agnes A; Jávor, Laszló L; Harmath, Veronika V; Szakszon, Katalin K; Dezsi, Livia L; Balku, Eniko E; Jobbagy, Zita Z; Herczegfalvi, Agnes A; Almássy, Zsuzsanna Z; Kerényi, Levente L; Molnar, Maria Judit MJ

Publication Date: 2021-05-31

Variant appearance in text: GAA: 546G>T

PubMed Link: 34072668

Variant Present in the following documents:

• life-11-00507.pdf

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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

European Journal Of Human Genetics : Ejhg

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; Catalano, Fabio F; Yamanaka, Manjiro M; Takahashi, Satoru S; Okumiya, Toshika T; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 546G>T

PubMed Link: 33168984

Variant Present in the following documents:

• Main text
• 41431_2020_Article_751.pdf

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Molecular genetics of Pompe disease: a comprehensive overview.

Annals Of Translational Medicine

Peruzzo, Paolo P; Pavan, Eleonora E; Dardis, Andrea A

Publication Date: 2019-07

Variant appearance in text: GAA: 546G>T

PubMed Link: 31392190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

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

Kishnani, Priya S PS; Gibson, James B JB; Gambello, Michael J MJ; Hillman, Richard R; Stockton, David W DW; Kronn, David D; Leslie, Nancy D ND; Pena, Loren D M LDM; Tanpaiboon, Pranoot P; Day, John W JW; Wang, Raymond Y RY; Goldstein, Jennifer L JL; An Haack, Kristina K; Sparks, Susan E SE; Zhao, Yang Y; Hahn, Si Houn SH; ,

Publication Date: 2019-11

Variant appearance in text: GAA: 546G>T

PubMed Link: 31086307

Variant Present in the following documents:

• 41436_2019_Article_527.pdf

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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean Journal Of Pediatrics

Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2019-06

Variant appearance in text: GAA: 546G>T

PubMed Link: 30360039

Variant Present in the following documents:

• Main text
• kjp-2018-06968.pdf

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[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: 546G>T

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

View BVdb publication page

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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Molecular Genetics And Metabolism Reports

Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T

Publication Date: 2018-03

Variant appearance in text: GAA: 546G>T; T182T

PubMed Link: 29124014

Variant Present in the following documents:

• Main text
• main.pdf

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Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.

Jimd Reports

Shimada, Yohta Y; Nishimura, Erica E; Hoshina, Hiroo H; Kobayashi, Hiroshi H; Higuchi, Takashi T; Eto, Yoshikatsu Y; Ida, Hiroyuki H; Ohashi, Toya T

Publication Date: 2015

Variant appearance in text: GAA: 546G>T

PubMed Link: 25256446

Variant Present in the following documents:

• Main text

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The missing puzzle piece: splicing mutations.

International Journal Of Clinical And Experimental Pathology

Lewandowska, Marzena A MA

Publication Date: 2013

Variant appearance in text: GAA: 546G>T

PubMed Link: 24294354

Variant Present in the following documents:

• Main text

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Developing therapeutic approaches for metachromatic leukodystrophy.

Drug Design, Development And Therapy

Patil, Shilpa A SA; Maegawa, Gustavo H B GH

Publication Date: 2013

Variant appearance in text: GAA: 546G>T

PubMed Link: 23966770

Variant Present in the following documents:

• Main text

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The importance of phase information for human genomics.

Nature Reviews. Genetics

Tewhey, Ryan R; Bansal, Vikas V; Torkamani, Ali A; Topol, Eric J EJ; Schork, Nicholas J NJ

Publication Date: 2011-03

Variant appearance in text: GAA: 546G>T

PubMed Link: 21301473

Variant Present in the following documents:

• Main text

View BVdb publication page

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