Publications:

---

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: 1064T>C; Leu355Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

1,6-epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease.

Journal Of The American Chemical Society

Kok, Ken K; Kuo, Chi-Lin CL; Katzy, Rebecca E RE; Lelieveld, Lindsey T LT; Wu, Liang L; Roig-Zamboni, Véronique V; van der Marel, Gijsbert A GA; Codée, Jeroen D C JDC; Sulzenbacher, Gerlind G; Davies, Gideon J GJ; Overkleeft, Herman S HS; Aerts, Johannes M F G JMFG; Artola, Marta M

Publication Date: 2022-08-17

Variant appearance in text: GAA: L355P

PubMed Link: 35917590

Variant Present in the following documents:

• Main text
• ja2c05666.pdf
• ja2c05666_si_001.pdf

View BVdb publication page

---

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: 1064T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.

Journal Of Personalized Medicine

Bar-Yoseph, Ronen R; Tal, Galit G; Dumin, Elena E; Hanna, Moneera M; Mainzer, Gur G; Zucker-Toledano, Merav M; Shallufi, George G; Jahshan, Mira M; Mandel, Hanna H; Bentur, Lea L

Publication Date: 2021-10-28

Variant appearance in text: GAA: L355P

PubMed Link: 34834457

Variant Present in the following documents:

• Main text
• jpm-11-01105.pdf

View BVdb publication page

---

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

Niño, Monica Y MY; In't Groen, Stijn L M SLM; de Faria, Douglas O S DOS; Hoogeveen-Westerveld, Marianne M; van den Hout, Hannerieke J M P HJMP; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-11

Variant appearance in text: GAA: Leu355Pro

PubMed Link: 34405923

Variant Present in the following documents:

• Main text
• HUMU-42-1461.pdf

View BVdb publication page

---

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: 1064T>C; Leu355Pro; rs766074609

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1064T>C; Leu355Pro

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.

Orphanet Journal Of Rare Diseases

Galeotti, Angela A; De Rosa, Sara S; Uomo, Roberto R; Dionisi-Vici, Carlo C; Deodato, Federica F; Taurisano, Roberta R; Olivieri, Giorgia G; Festa, Paola P

Publication Date: 2020-11-23

Variant appearance in text: GAA: 1064T>C

PubMed Link: 33228748

Variant Present in the following documents:

• 13023_2020_Article_1615.pdf

View BVdb publication page

---

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: L355P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GAA: 1064T>C; Leu355Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 5

View BVdb publication page

---

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Heliyon

Puentes-Tellez, María Alejandra MA; Lerma-Barbosa, Paula Andrea PA; Garzón-Jaramillo, Rafael Guillermo RG; Suarez, Diego A DA; Espejo-Mojica, Angela J AJ; Guevara, Johana M JM; Echeverri, Olga Yaneth OY; Solano-Galarza, Daniela D; Uribe-Ardila, Alfredo A; Alméciga-Díaz, Carlos J CJ

Publication Date: 2020-03

Variant appearance in text: GAA: L355P

PubMed Link: 32258481

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications

Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP

Publication Date: 2020-02

Variant appearance in text: GAA: 1064T>C

PubMed Link: 31993078

Variant Present in the following documents:

• EVA-13-303-s006.xlsx, sheet 1

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GAA: 1064T>C; Leu355Pro; rs766074609

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

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: 1064T>C; Leu355Pro

PubMed Link: 31342611

Variant Present in the following documents:

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

View BVdb publication page

---

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: L355P

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1064T>C

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1064T>C; Leu355Pro

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GAA: 1064T>C; Leu355Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: 1064T>C; L355P

PubMed Link: 30564623

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Molecular Genetics And Metabolism Reports

Al-Hassnan, Zuhair N ZN; Khalifa, Ola A OA; Bubshait, Dalal K DK; Tulbah, Sahar S; Alkorashy, Maarab M; Alzaidan, Hamad H; Alowain, Mohammed M; Rahbeeni, Zuhair Z; Al-Sayed, Moeen M

Publication Date: 2018-06

Variant appearance in text: GAA: 1064T>C; Leu355Pro

PubMed Link: 30023291

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: L355P

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

View BVdb publication page

---

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: L355P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: Leu355Pro

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

View BVdb publication page

---

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics

Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y

Publication Date: 2014-12-20

Variant appearance in text: GAA: 1064T>C

PubMed Link: 25526786

Variant Present in the following documents:

• 12881_2014_Article_141.pdf

View BVdb publication page

---

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: 1064T>C; Leu355Pro

PubMed Link: 24383498

Variant Present in the following documents:

View BVdb publication page

---

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Orphanet Journal Of Rare Diseases

Prater, Sean N SN; Patel, Trusha T TT; Buckley, Anne F AF; Mandel, Hanna H; Vlodavski, Eugene E; Banugaria, Suhrad G SG; Feeney, Erin J EJ; Raben, Nina N; Kishnani, Priya S PS

Publication Date: 2013-06-20

Variant appearance in text: GAA: 1064T>C; Leu355Pro

PubMed Link: 23787031

Variant Present in the following documents:

• 1750-1172-8-90.pdf

View BVdb publication page

---

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

Bmj Case Reports

Zouheir Habbal, Mohammad M; Bou Assi, Tarek T; Mansour, Hicham H

Publication Date: 2013-04-29

Variant appearance in text: GAA: Leu355Pro

PubMed Link: 23632174

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Jimd Reports

Niño, Mónica Yasmín MY; Mateus, Heidi Eliana HE; Fonseca, Dora Janeth DJ; Kroos, Marian A MA; Ospina, Sandra Yaneth SY; Mejía, Juan Fernando JF; Uribe, Jesús Alfredo JA; Reuser, Arnold J J AJ; Laissue, Paul P

Publication Date: 2013

Variant appearance in text: GAA: 1064T>C; Leu355Pro

PubMed Link: 23430493

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1064T>C; L355P

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

View BVdb publication page

---