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: 925G>A; Gly309Arg

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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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance

Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V

Publication Date: 2023-03

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 36635046

Variant Present in the following documents:

• LSA-2022-01673_TableS2.xlsx, sheet 1

View BVdb publication page

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Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Frontiers In Genetics

Goomber, Shelly S; Huggins, Erin E; Rehder, Catherine W CW; Cohen, Jennifer L JL; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2022

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 36246652

Variant Present in the following documents:

• Main text
• fgene-13-1001154.pdf

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: GAA: 925G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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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: G309R

PubMed Link: 35650442

Variant Present in the following documents:

• 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1

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: 925G>A

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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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: G309R; rs543300039

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: GAA: 925G>A; Gly309Arg; rs543300039

PubMed Link: 34691145

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

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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: 925G>A

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.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: 925G>A; Gly309Arg; rs543300039

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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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: 925G>A; Gly309Arg; rs543300039

PubMed Link: 34072668

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Orphanet Journal Of Rare Diseases

Hernández-Arévalo, Paula P; Santotoribio, José D JD; Delarosa-Rodríguez, Rocío R; González-Meneses, Antonio A; García-Morillo, Salvador S; Jiménez-Arriscado, Pilar P; Guerrero, Juan M JM; Macher, Hada C HC

Publication Date: 2021-05-21

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 34020684

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1864.pdf

View BVdb publication page

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Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: GAA: G309R; rs543300039

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

View BVdb publication page

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Establishment and characterisation of testicular cancer patient-derived xenograft models for preclinical evaluation of novel therapeutic strategies.

Scientific Reports

de Vries, Gerda G; Rosas-Plaza, Ximena X; Meersma, Gert Jan GJ; Leeuwenburgh, Vincent C VC; Kok, Klaas K; Suurmeijer, Albert J H AJH; van Vugt, Marcel A T M MATM; Gietema, Jourik A JA; de Jong, Steven S

Publication Date: 2020-11-03

Variant appearance in text: GAA: Gly309Arg

PubMed Link: 33144587

Variant Present in the following documents:

• 41598_2020_75518_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 925G>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: G309R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: 925G>A

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.pdf

View BVdb publication page

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Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: GAA: 925G>A

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: GAA: 925G>A; Gly309Arg; rs543300039

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Molecular Therapy. Methods & Clinical Development

In 't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Iuliano, Alessandro A; van den Hout, Johanna M P JMP; Douben, Hannie H; Dijkhuizen, Trijnie T; Cassiman, David D; Witters, Peter P; Barba Romero, Miguel-Ángel MÁ; de Klein, Annelies A; Somers-Bolman, Galhana M GM; Saris, Jasper J JJ; Hoefsloot, Lies H LH; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2020-06-12

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 32071926

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Pediatric Pulmonology

ElMallah, Mai K MK; Desai, Ankit K AK; Nading, Erica B EB; DeArmey, Stephanie S; Kravitz, Richard M RM; Kishnani, Priya S PS

Publication Date: 2020-03

Variant appearance in text: GAA: 925G>A

PubMed Link: 31899940

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 925G>A; Gly309Arg

PubMed Link: 31392188

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: 925G>A

PubMed Link: 31342611

Variant Present in the following documents:

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

View BVdb publication page

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: GAA: G309R

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 925G>A

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 925G>A; Gly309Arg

PubMed Link: 31193175

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: 925G>A; G309R

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.pdf

View BVdb publication page

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

European Journal Of Human Genetics : Ejhg

Labrijn-Marks, Ineke I; Somers-Bolman, Galhana M GM; In 't Groen, Stijn L M SLM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Ala-Mello, Sirpa S; Amaral, Olga O; Miranda, Clara Sa CS; Mavridou, Irene I; Michelakakis, Helen H; Naess, Karin K; Verheijen, Frans W FW; Hoefsloot, Lies H LH; Dijkhuizen, Trijnie T; Benjamins, Marloes M; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP; Saris, Jasper J JJ; Halley, Dicky J DJ

Publication Date: 2019-06

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 30737479

Variant Present in the following documents:

• Main text
• 41431_2019_Article_348.pdf

View BVdb publication page

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Pompe Disease: From Basic Science to Therapy.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kohler, Lara L; Puertollano, Rosa R; Raben, Nina N

Publication Date: 2018-10

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 30117059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Orphanet Journal Of Rare Diseases

Hensel, Ole O; Schneider, Ilka I; Wieprecht, Mathias M; Kraya, Torsten T; Zierz, Stephan S

Publication Date: 2018-04-13

Variant appearance in text: GAA: 925G>A; G309R

PubMed Link: 29653542

Variant Present in the following documents:

• Main text
• 13023_2018_Article_794.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: 925G>A; Gly309Arg

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: G309R

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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: 925G>A; Gly309Arg; rs543300039

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Enzyme replacement therapy and antibodies in late-onset Pompe disease.

Molecular Genetics And Metabolism Reports

Schneider, I I; Deschauer, M M; Hanisch, F F

Publication Date: 2014

Variant appearance in text: GAA: G309R

PubMed Link: 27896092

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet Journal Of Rare Diseases

van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT

Publication Date: 2016-05-18

Variant appearance in text: GAA: 925G>A

PubMed Link: 27189384

Variant Present in the following documents:

• Main text
• 13023_2016_Article_442.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: G309R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease.

Autophagy

Lim, Jeong-A JA; Li, Lishu L; Kakhlon, Or O; Myerowitz, Rachel R; Raben, Nina N

Publication Date: 2015

Variant appearance in text: GAA: 925G>A

PubMed Link: 25758767

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly309Arg

PubMed Link: 25614309

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: GAA: Gly309Arg

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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Glycogenosome accumulation in the arrector pili muscle in Pompe disease.

Orphanet Journal Of Rare Diseases

Katona, Istvan I; Weis, Joachim J; Hanisch, Frank F

Publication Date: 2014-02-05

Variant appearance in text: GAA: 925G>A

PubMed Link: 24495340

Variant Present in the following documents:

• Main text

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Phenotypical variation within 22 families with Pompe disease.

Orphanet Journal Of Rare Diseases

Wens, Stephan C A SC; van Gelder, Carin M CM; Kruijshaar, Michelle E ME; de Vries, Juna M JM; van der Beek, Nadine A M E NA; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT; Brusse, Esther E

Publication Date: 2013-11-19

Variant appearance in text: GAA: 925G>A; Gly309Arg

PubMed Link: 24245577

Variant Present in the following documents:

• Main text
• 1750-1172-8-182.pdf

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B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Elder, Melissa E ME; Nayak, Sushrusha S; Collins, Shelley W SW; Lawson, Lee Ann LA; Kelley, Jeffry S JS; Herzog, Roland W RW; Modica, Renee F RF; Lew, Judy J; Lawrence, Robert M RM; Byrne, Barry J BJ

Publication Date: 2013-09

Variant appearance in text: GAA: 925G>A

PubMed Link: 23601496

Variant Present in the following documents:

• Main text

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Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report.

Jimd Reports

Markic, Josko J; Polic, Branka B; Kuzmanic-Samija, Radenka R; Marusic, Eugenija E; Stricevic, Luka L; Metlicic, Vitomir V; Mestrovic, Julije J

Publication Date: 2012

Variant appearance in text: GAA: Gly309Arg

PubMed Link: 23430847

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: 925G>A; G309R

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

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