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: 2242dup; Glu748fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: GAA: 2238dupG

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation.

Molecular Genetics And Metabolism Reports

Maharaj, Mandat M; Skidmore, David L DL; Croul, Sidney E SE; Brake, David J DJ; Lochmuller, Hanns H

Publication Date: 2022-09

Variant appearance in text: GAA: 2242dup

PubMed Link: 36046397

Variant Present in the following documents:

• Main text
• main.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GAA: 2242dupG

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Journal Of Clinical Medicine

Thuriot, Fanny F; Gravel, Elaine E; Hodson, Katherine K; Ganopolsky, Jorge J; Rakic, Bojana B; Waters, Paula J PJ; Gravel, Serge S; Lévesque, Sébastien S

Publication Date: 2021-08-28

Variant appearance in text: GAA: 2242dupG; Glu748fs

PubMed Link: 34501319

Variant Present in the following documents:

• Main text
• jcm-10-03868.pdf

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GAA: 2239dupG

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nature Communications

Carlson-Stevermer, Jared J; Das, Amritava A; Abdeen, Amr A AA; Fiflis, David D; Grindel, Benjamin I BI; Saxena, Shivani S; Akcan, Tugce T; Alam, Tausif T; Kletzien, Heidi H; Kohlenberg, Lucille L; Goedland, Madelyn M; Dombroe, Micah J MJ; Saha, Krishanu K

Publication Date: 2020-12-08

Variant appearance in text: GAA: 2242dupG

PubMed Link: 33293555

Variant Present in the following documents:

• 41467_2020_20065_MOESM1_ESM.pdf

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening

Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K

Publication Date: 2020-03

Variant appearance in text: GAA: 2242dupG

PubMed Link: 33073003

Variant Present in the following documents:

• Main text
• IJNS-06-00004.pdf

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 2242dup; Glu748fs

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Annals Of Clinical And Translational Neurology

Nallamilli, Babi Ramesh Reddy BRR; Chakravorty, Samya S; Kesari, Akanchha A; Tanner, Alice A; Ankala, Arunkanth A; Schneider, Thomas T; da Silva, Cristina C; Beadling, Randall R; Alexander, John J JJ; Askree, Syed Hussain SH; Whitt, Zachary Z; Bean, Lora L; Collins, Christin C; Khadilkar, Satish S; Gaitonde, Pradnya P; Dastur, Rashna R; Wicklund, Matthew M; Mozaffar, Tahseen T; Harms, Matthew M; Rufibach, Laura L; Mittal, Plavi P; Hegde, Madhuri M

Publication Date: 2018-12

Variant appearance in text: GAA: 2242dupG

PubMed Link: 30564623

Variant Present in the following documents:

• Main text
• ACN3-5-1574.pdf

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism

Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS

Publication Date: 2017-12

Variant appearance in text: GAA: 2242dupG; Glu748Glyfs*48

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

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Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Pittis, M G MG; Filocamo, M M

Publication Date: 2007-07

Variant appearance in text: GAA: 2242dupG; E748GfsX48

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

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