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: 2481+110_2646+39del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.

International Journal Of Neonatal Screening

Crossen, Kaylee K; Berry, Lisa L; Myers, Melanie F MF; Leslie, Nancy N; Goueli, Cecilia C

Publication Date: 2022-07-19

Variant appearance in text: GAA: 2481+110_2646+39del

PubMed Link: 35892473

Variant Present in the following documents:

• IJNS-08-00043.pdf

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Is the brain involved in patients with late-onset Pompe disease?

Journal Of Inherited Metabolic Disease

van den Dorpel, Jan J A JJA; van der Vlugt, Willemijn M C WMC; Dremmen, Marjolein H G MHG; Muetzel, Ryan R; van den Berg, Esther E; Hest, Roos R; de Kriek, Joni J; Brusse, Esther E; van Doorn, Pieter A PA; van der Ploeg, Ans T AT; van den Hout, Johanna M P JMP; van der Beek, Nadine A M E NAME

Publication Date: 2022-05

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 34927739

Variant Present in the following documents:

• Main text

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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites

Saville, Jennifer T JT; Fuller, Maria M

Publication Date: 2021-07-08

Variant appearance in text: GAA: 2481+109_2646+38del

PubMed Link: 34357340

Variant Present in the following documents:

• Main text
• metabolites-11-00446.pdf

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Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.

Frontiers In Neurology

Alonso-Jiménez, Alicia A; Nuñez-Peralta, Claudia C; Montesinos, Paula P; Alonso-Pérez, Jorge J; García, Carme C; Montiel, Elena E; Belmonte, Izaskun I; Pedrosa, Irene I; Segovia, Sonia S; Llauger, Jaume J; Díaz-Manera, Jordi J

Publication Date: 2021

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 34305788

Variant Present in the following documents:

• Main text
• fneur-12-675781.pdf

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Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology

De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS

Publication Date: 2021

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

Molecular Therapy. Methods & Clinical Development

Buratti, Emanuele E; Peruzzo, Paolo P; Braga, Luca L; Zanin, Irene I; Stuani, Cristiana C; Goina, Elisa E; Romano, Maurizio M; Giacca, Mauro M; Dardis, Andrea A

Publication Date: 2021-03-12

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 33426149

Variant Present in the following documents:

• Main text
• main.pdf
• mmc4.pdf

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

European Journal Of Human Genetics : Ejhg

Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 33162552

Variant Present in the following documents:

• Main text
• 41431_2020_Article_752.pdf

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Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Frontiers In Immunology

Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2020

Variant appearance in text: GAA: 2481+110_2646+39del

PubMed Link: 32849613

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pompe disease: pathogenesis, molecular genetics and diagnosis.

Aging

Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G

Publication Date: 2020-08-03

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.pdf

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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Molecular Genetics And Metabolism Reports

Piraud, Monique M; Pettazzoni, Magali M; de Antonio, Marie M; Vianey-Saban, Christine C; Froissart, Roseline R; Chabrol, Brigitte B; Young, Sarah S; Laforêt, Pascal P; ,

Publication Date: 2020-06

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 32382504

Variant Present in the following documents:

• Main text

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Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.

International Journal Of Neonatal Screening

Smith, Laurie D LD; Bainbridge, Matthew N MN; Parad, Richard B RB; Bhattacharjee, Arindam A

Publication Date: 2020-06

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 32352041

Variant Present in the following documents:

• Main text
• IJNS-06-00032.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: 2481+102_2646+31del

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2481+102_2646+31del

PubMed Link: 31392190

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: 2481+102_2646+31del

PubMed Link: 31342611

Variant Present in the following documents:

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

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Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Human Mutation

Niño, Monica Y MY; In 't Groen, Stijn L M SLM; Bergsma, Atze J AJ; van der Beek, Nadine A M E NAME; Kroos, Marian M; Hoogeveen-Westerveld, Marianne M; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-11

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2019-09

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

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A genetic modifier of symptom onset in Pompe disease.

Ebiomedicine

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; van den Dorpel, Jan J A JJA; van den Hout, Hannerieke J M P HJMP; van der Beek, Nadine A M E NAME; Schoser, Benedikt B; Toscano, Antonio A; Musumeci, Olimpia O; Bembi, Bruno B; Dardis, Andrea A; Morrone, Amelia A; Tummolo, Albina A; Pasquini, Elisabetta E; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-05

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 30922962

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.

Iranian Journal Of Medical Sciences

Moravej, Hossein H; Amirhakimi, Anis A; Showraki, Alireza A; Amoozgar, Hamid H; Hadipour, Zahra Z; Nikfar, Ghasem G

Publication Date: 2018-03

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 29749992

Variant Present in the following documents:

• Main text
• IJMS-43-218.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: 2481+102_2646+31del

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

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Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Plos One

Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,

Publication Date: 2016

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 27711114

Variant Present in the following documents:

• Main text

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Morphology and function of cerebral arteries in adults with pompe disease.

Jimd Reports

Hensel, Ole O; Hanisch, F F; Stock, K K; Stoevesandt, D D; Deschauer, M M; Müller, T T

Publication Date: 2015

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 25614309

Variant Present in the following documents:

• Main text

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

Journal Of Inherited Metabolic Disease

van Gelder, Carin M CM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Plug, Iris I; van der Ploeg, Ans T AT; Reuser, Arnold J J AJ

Publication Date: 2015-03

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 24715333

Variant Present in the following documents:

• 10545_2014_Article_9707.pdf

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A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

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

Esmer, Carmen C; Becerra-Becerra, Rosario R; Peña-Zepeda, Claudia C; Bravo-Oro, Antonio A

Publication Date: 2013-10

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 24399866

Variant Present in the following documents:

• Main text

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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathologica Communications

Feeney, Erin J EJ; Austin, Stephanie S; Chien, Yin-Hsiu YH; Mandel, Hanna H; Schoser, Benedikt B; Prater, Sean S; Hwu, Wuh-Liang WL; Ralston, Evelyn E; Kishnani, Priya S PS; Raben, Nina N

Publication Date: 2014-01-02

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 24383498

Variant Present in the following documents:

View BVdb publication page

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A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Plos One

Seppälä, Eija H EH; Reuser, Arnold J J AJ; Lohi, Hannes H

Publication Date: 2013

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 23457621

Variant Present in the following documents:

• Main text
• pone.0056825.pdf

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Management of a pregnancy complicated by pompe disease.

Case Reports In Obstetrics And Gynecology

Weida, Jennifer J; Hainline, B E BE; Bodkin, C C; Williams, M K MK

Publication Date: 2012

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 23304582

Variant Present in the following documents:

• Main text

View BVdb publication page

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases

Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E

Publication Date: 2012-06-07

Variant appearance in text: GAA: 2481+102_2646+31del

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

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