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: 258dup; Asn87fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Frontiers In Pharmacology

Zhu, Diqi D; Zhu, Jiacong J; Qiu, Wenjuan W; Wang, Benzhen B; Liu, Lin L; Yu, Xiaodan X; Ou, Zhenheng Z; Shan, Guangsong G; Wang, Jian J; Li, Bin B; Chen, Xiaokang X; Liu, Cong C; Li, Zipu Z; Fu, Lijun L

Publication Date: 2022

Variant appearance in text: GAA: 258dupC; Asn87Glnfs*9

PubMed Link: 35833019

Variant Present in the following documents:

• Main text
• fphar-13-903488.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: 258dupC

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: 258dupC; Asn87fs

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: 256dupC

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

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

Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2021-05

Variant appearance in text: GAA: 258dupC

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

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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: 258dupC

PubMed Link: 33293555

Variant Present in the following documents:

• 41467_2020_20065_MOESM1_ESM.pdf

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Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening

Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R

Publication Date: 2020-11-13

Variant appearance in text: GAA: 258dupC

PubMed Link: 33202836

Variant Present in the following documents:

• Main text
• IJNS-06-00089.pdf

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Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet Journal Of Rare Diseases

Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG

Publication Date: 2020-04-05

Variant appearance in text: GAA: 258dupC

PubMed Link: 32248831

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1353.pdf

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Orphanet Journal Of Rare Diseases

Bevilacqua, Jorge A JA; Guecaimburu Ehuletche, Maria Del Rosario MDR; Perna, Abayuba A; Dubrovsky, Alberto A; Franca, Marcondes C MC; Vargas, Steven S; Hegde, Madhuri M; Claeys, Kristl G KG; Straub, Volker V; Daba, Nadia N; Faria, Roberta R; Periquet, Magali M; Sparks, Susan S; Thibault, Nathan N; Araujo, Roberto R

Publication Date: 2020-01-13

Variant appearance in text: GAA: 258dup; Asn87Glnfs*9

PubMed Link: 31931849

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1291.pdf

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Infantile onset Pompe disease presenting with non-immune hydrops fetalis.

Molecular Genetics And Metabolism Reports

Lee, Kristen K; Fisher, Rachel R; Quinonez, Shane C SC; Ahmad, Ayesha A

Publication Date: 2019-12

Variant appearance in text: GAA: 258dupC; Asn87Glnfs*9

PubMed Link: 31467850

Variant Present in the following documents:

• Main text
• main.pdf

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Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine

Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2019-07

Variant appearance in text: GAA: 258dupC

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Annals Of Translational Medicine

Alandy-Dy, Jousef J; Wencel, Marie M; Hall, Kathy K; Simon, Julie J; Chen, Yanjun Y; Valenti, Erik E; Yang, Jade J; Bali, Deeksha D; Lakatos, Anita A; Goyal, Namita N; Mozaffar, Tahseen T; Kimonis, Virginia V

Publication Date: 2019-07

Variant appearance in text: GAA: 258dupC; Asn87Glnfs*9

PubMed Link: 31392188

Variant Present in the following documents:

• Main text

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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: 258dupC

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

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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: 258dupC

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.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: 258dupC

PubMed Link: 30564623

Variant Present in the following documents:

• Main text

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: GAA: 252dupC

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GAA: 251_252insC

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: 258dupC; N87QfsX9

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

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