Publications:

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GAA: 896T>C

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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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: 896T>C; Leu299Pro

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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Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

Kilavuz, S S; Kor, D D; Bulut, F D FD; Serbes, M M; Karagoz, D D; Altıntas, D U DU; Bisgin, A A; Seydaoğlu, G G; Mungan, H N O HNO

Publication Date: 2022-08

Variant appearance in text: GAA: L299P

PubMed Link: 35705384

Variant Present in the following documents:

• Main text

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A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report.

Journal Of Pediatric Intensive Care

Bor, Meltem M; Ilhan, Ozkan O; Gumus, Evren E; Ozkan, Solmaz S; Karaca, Meryem M

Publication Date: 2022-03

Variant appearance in text: GAA: 896T>C; Leu299Pro

PubMed Link: 35178279

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 896T>C; Leu299Pro

PubMed Link: 34501319

Variant Present in the following documents:

• Main text
• jcm-10-03868.pdf

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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

Molecular Genetics And Metabolism Reports

AlBanji, Mohammed H MH; AlSaad, Abdulaziz N AN; AlAnazi, Riyam F RF; Aleisa, Zahra A ZA; Alam, Dalya S DS; Alhashim, Aqeela H AH

Publication Date: 2020-12

Variant appearance in text: GAA: 896T>C; L299P

PubMed Link: 33101984

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening

Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K

Publication Date: 2020-06

Variant appearance in text: GAA: 896T>C; L299P

PubMed Link: 33073027

Variant Present in the following documents:

• Main text
• IJNS-06-00031.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: L299P

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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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: 896T>C; Leu299Pro

PubMed Link: 32832622

Variant Present in the following documents:

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

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: 896T>C

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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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: 896T>C; Leu299Pro

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: GAA: 896T>C; Leu299Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: GAA: L299P

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Orphanet Journal Of Rare Diseases

Parini, Rossella R; De Lorenzo, Paola P; Dardis, Andrea A; Burlina, Alberto A; Cassio, Alessandra A; Cavarzere, Paolo P; Concolino, Daniela D; Della Casa, Roberto R; Deodato, Federica F; Donati, Maria Alice MA; Fiumara, Agata A; Gasperini, Serena S; Menni, Francesca F; Pagliardini, Veronica V; Sacchini, Michele M; Spada, Marco M; Taurisano, Roberta R; Valsecchi, Maria Grazia MG; Di Rocco, Maja M; Bembi, Bruno B

Publication Date: 2018-02-08

Variant appearance in text: GAA: 896T>C

PubMed Link: 29422078

Variant Present in the following documents:

• 13023_2018_Article_771.pdf

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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: 896T>C; Leu299Pro; rs121907940

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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Familial Pompe Disease.

Medical Archives (Sarajevo, Bosnia And Herzegovina)

Tecellioglu, Mehmet M; Kamisli, Ozden O

Publication Date: 2015-10

Variant appearance in text: GAA: 896T>C

PubMed Link: 26622091

Variant Present in the following documents:

• Main text
• MA-69-342.pdf

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: GAA: L299P; rs121907940

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports

Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E

Publication Date: 2015

Variant appearance in text: GAA: 896T>C

PubMed Link: 25626711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.

Orphanet Journal Of Rare Diseases

de Vries, Juna M JM; van der Beek, Nadine A M E NA; Hop, Wim C J WC; Karstens, Francois P J FP; Wokke, John H JH; de Visser, Marianne M; van Engelen, Baziel G M BG; Kuks, Jan B M JB; van der Kooi, Anneke J AJ; Notermans, Nicolette C NC; Faber, Catharina G CG; Verschuuren, Jan J G M JJ; Kruijshaar, Michelle E ME; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT

Publication Date: 2012-09-26

Variant appearance in text: GAA: 896T>C

PubMed Link: 23013746

Variant Present in the following documents:

• 1750-1172-7-73.pdf

View BVdb publication page

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