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: GALNS: 740G>A; Gly247Asp

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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Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease.

Frontiers In Cardiovascular Medicine

Montavon, Brittany B; Winter, Linda E LE; Gan, Qi Q; Arasteh, Amirhossein A; Montaño, Adriana M AM

Publication Date: 2022

Variant appearance in text: GALNS: G247D

PubMed Link: 35620518

Variant Present in the following documents:

• Table_1.pdf

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: GALNS: 740G>A; G247D; rs761385192

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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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: GALNS: G247D; rs761385192

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Human Mutation

Zanetti, Alessandra A; D'Avanzo, Francesca F; AlSayed, Moeenaldeen M; Brusius-Facchin, Ana Carolina AC; Chien, Yin-Hsiu YH; Giugliani, Roberto R; Izzo, Emanuela E; Kasper, David C DC; Lin, Hsiang-Yu HY; Lin, Shuan-Pei SP; Pollard, Laura L; Singh, Akashdeep A; Tonin, Rodolfo R; Wood, Tim T; Morrone, Amelia A; Tomanin, Rosella R

Publication Date: 2021-11

Variant appearance in text: rs761385192

PubMed Link: 34387910

Variant Present in the following documents:

• HUMU-42-1384-s001.xlsx, sheet 2
• HUMU-42-1384-s001.xlsx, sheet 5

View BVdb publication page

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A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.

Clinical Medicine Insights. Case Reports

Goldman, Eric E; Vu, Angela A; Dietz, Kelly K; Thomas, Stefani N SN

Publication Date: 2021

Variant appearance in text: GALNS: Gly247Asp

PubMed Link: 33746520

Variant Present in the following documents:

• Main text
• 10.1177_1179547621999409.pdf

View BVdb publication page

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs761385192

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GALNS: 740G>A; G247D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: GALNS: G247D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: GALNS: G247D

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget

Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S

Publication Date: 2017-09-26

Variant appearance in text: GALNS: G247D

PubMed Link: 29088767

Variant Present in the following documents:

• oncotarget-08-74049-s002.xlsx, sheet 2

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: GALNS: G247D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Overcoming the barriers to diagnosis of Morquio A syndrome.

Orphanet Journal Of Rare Diseases

Bhattacharya, Kaustuv K; Balasubramaniam, Shanti S; Choy, Yew Sing YS; Fietz, Michael M; Fu, Antony A; Jin, Dong Kyu DK; Kim, Ok-Hwa OH; Kosuga, Motomichi M; Kwun, Young Hee YH; Inwood, Anita A; Lin, Hsiang-Yu HY; McGill, Jim J; Mendelsohn, Nancy J NJ; Okuyama, Torayuki T; Samion, Hasri H; Tan, Adeline A; Tanaka, Akemi A; Thamkunanon, Verasak V; Toh, Teck-Hock TH; Yang, Albert D AD; Lin, Shuan-Pei SP

Publication Date: 2014-11-30

Variant appearance in text: GALNS: 740G>A; G247D

PubMed Link: 25433535

Variant Present in the following documents:

• Main text
• 13023_2014_Article_192.pdf

View BVdb publication page

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Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Human Mutation

Morrone, Amelia A; Caciotti, Anna A; Atwood, Robert R; Davidson, Kathryn K; Du, Chaoyi C; Francis-Lyon, Patricia P; Harmatz, Paul P; Mealiffe, Matthew M; Mooney, Sean S; Oron, Tal Ronnen TR; Ryles, April A; Zawadzki, Karl A KA; Miller, Nicole N

Publication Date: 2014-11

Variant appearance in text: GALNS: 740G>A; G247D

PubMed Link: 25137622

Variant Present in the following documents:

• humu0035-1271-sd1.pdf

View BVdb publication page

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Molecular Genetics And Metabolism

Morrone, A A; Tylee, K L KL; Al-Sayed, M M; Brusius-Facchin, A C AC; Caciotti, A A; Church, H J HJ; Coll, M J MJ; Davidson, K K; Fietz, M J MJ; Gort, L L; Hegde, M M; Kubaski, F F; Lacerda, L L; Laranjeira, F F; Leistner-Segal, S S; Mooney, S S; Pajares, S S; Pollard, L L; Ribeiro, I I; Wang, R Y RY; Miller, N N

Publication Date: 2014-06

Variant appearance in text: GALNS: 740G>A; Gly247Asp

PubMed Link: 24726177

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Molecular Genetics And Metabolism

Dũng, Vũ Chí VC; Tomatsu, Shunji S; Montaño, Adriana M AM; Gottesman, Gary G; Bober, Michael B MB; Mackenzie, William W; Maeda, Miho M; Mitchell, Grant A GA; Suzuki, Yasuyuki Y; Orii, Tadao T

Publication Date: 2013

Variant appearance in text: GALNS: 740G>A; G247D

PubMed Link: 23876334

Variant Present in the following documents:

• Main text

View BVdb publication page

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The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.

Journal Of Molecular Biology

Rivera-Colón, Yadilette Y; Schutsky, Emily K EK; Kita, Adriana Z AZ; Garman, Scott C SC

Publication Date: 2012-11-09

Variant appearance in text: GALNS: G247D

PubMed Link: 22940367

Variant Present in the following documents:

• Main text

View BVdb publication page

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