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: 2608C>T; Arg870Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: GAA: 2608C>T; R870X; rs780321415

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.

Molecular Genetics & Genomic Medicine

Cerón-Rodríguez, Magdalena M; Castillo-García, Daniela D; Acosta-Rodríguez-Bueno, Carlos-Patricio CP; Aguirre-Hernández, Jesús J; Murillo-Eliosa, Juan-Rafael JR; Valencia-Mayoral, Pedro P; Escobar-Sánchez, Argelia A; Salgado-Loza, Juan-Luis JL

Publication Date: 2022-07

Variant appearance in text: GAA: Arg870Ter

PubMed Link: 35532199

Variant Present in the following documents:

• Main text
• MGG3-10-e1957.pdf

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Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.

Bmj Case Reports

Senarathne, Udara Dilrukshi UD; Jasinge, Eresha E; Viknarajah Mohan, Sarojini S; Waidyanatha, Samantha S

Publication Date: 2022-03-09

Variant appearance in text: GAA: 2608C>T; Arg870Ter

PubMed Link: 35264382

Variant Present in the following documents:

• Main text
• bcr-2021-247312.pdf

View BVdb publication page

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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: 2608C>T

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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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Cells

Claeys, Kristl G KG; D'Hondt, Ann A; Fache, Lucas L; Peers, Koen K; Depuydt, Christophe E CE

Publication Date: 2022-01-20

Variant appearance in text: GAA: 2608C>T

PubMed Link: 35159144

Variant Present in the following documents:

• Main text
• cells-11-00334.pdf

View BVdb publication page

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Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Cells

Claeys, Kristl G KG; D'Hondt, Ann A; Fache, Lucas L; Peers, Koen K; Depuydt, Christophe E CE

Publication Date: 2022-01-20

Variant appearance in text: GAA: 2608C>T

PubMed Link: 35159144

Variant Present in the following documents:

• Main text
• cells-11-00334.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GAA: R870X

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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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: 2608C>T

PubMed Link: 34927739

Variant Present in the following documents:

• Main text
• JIMD-45-493.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 2608C>T; Arg870Ter; rs780321415

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2608C>T

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: GAA: R870X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: GAA: 2608C>T; Arg870Ter; rs780321415

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2608C>T

PubMed Link: 32849613

Variant Present in the following documents:

• Main text
• fimmu-11-01727.pdf

View BVdb publication page

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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: 2608C>T

PubMed Link: 32248831

Variant Present in the following documents:

• 13023_2020_Article_1353.pdf

View BVdb publication page

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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: 2608C>T

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2608C>T

PubMed Link: 31342611

Variant Present in the following documents:

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

View BVdb publication page

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Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Journal Of Neurology

Löscher, W N WN; Huemer, M M; Stulnig, T M TM; Simschitz, P P; Iglseder, S S; Eggers, C C; Moser, H H; Möslinger, D D; Freilinger, M M; Lagler, F F; Grinzinger, S S; Reichhardt, M M; Bittner, R E RE; Schmidt, W M WM; Lex, U U; Brunner-Krainz, M M; Quasthoff, S S; Wanschitz, J V JV

Publication Date: 2018-01

Variant appearance in text: GAA: 2608C>T

PubMed Link: 29181627

Variant Present in the following documents:

• 415_2017_Article_8686.pdf

View BVdb publication page

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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: 2608C>T; Arg870*

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: GAA: 2608C>T; Arg870Ter; rs780321415

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GAA: 2608C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: GAA: 2608C>T; Arg870*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Jimd Reports

Swift, Gyani G; Cleary, Maureen M; Grunewald, Stephanie S; Lozano, Sonia S; Ryan, Martina M; Davison, James J

Publication Date: 2017

Variant appearance in text: GAA: 2608C>T

PubMed Link: 27344650

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bone density in patients with late onset Pompe disease.

International Journal Of Endocrinology And Metabolism

Papadimas, George G; Terzis, Gerassimos G; Papadopoulos, Constantinos C; Areovimata, Anna A; Spengos, Konstantinos K; Kavouras, Stavros S; Manta, Panagiota P

Publication Date: 2012

Variant appearance in text: GAA: R870X

PubMed Link: 23843830

Variant Present in the following documents:

• Main text
• ijem-10-599.pdf

View BVdb publication page

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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Plos One

Banugaria, Suhrad G SG; Prater, Sean N SN; Patel, Trusha T TT; Dearmey, Stephanie M SM; Milleson, Christie C; Sheets, Kathryn B KB; Bali, Deeksha S DS; Rehder, Catherine W CW; Raiman, Julian A J JA; Wang, Raymond A RA; Labarthe, Francois F; Charrow, Joel J; Harmatz, Paul P; Chakraborty, Pranesh P; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2013

Variant appearance in text: GAA: 2608C>T; Arg870X

PubMed Link: 23825616

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: 2608C>T; Arg870X

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

View BVdb publication page

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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: 2608C>T; Arg870X

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: GAA: R870x

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

View BVdb publication page

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