Publications:

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A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.

Cureus

Albar, Rawia F RF; AlQurashi, Rahaf A RA; Naaman, Nada N; Alghamdi, Atheer A; Alghamdi, Sara K SK; Aljohani, Khulud K; Alsharif, Rawaf R

Publication Date: 2022-10

Variant appearance in text: NAGLU: 889C>T; Arg297*

PubMed Link: 36415369

Variant Present in the following documents:

• Main text
• cureus-0014-00000030519.pdf

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: NAGLU: R297X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.

Journal Of Multidisciplinary Healthcare

Cyske, Zuzanna Z; Anikiej-Wiczenbach, Paulina P; Wisniewska, Karolina K; Gaffke, Lidia L; Pierzynowska, Karolina K; Mański, Arkadiusz A; Wegrzyn, Grzegorz G

Publication Date: 2022

Variant appearance in text: NAGLU: 889C>T; Arg297Ter

PubMed Link: 36158637

Variant Present in the following documents:

• jmdh-15-2097.pdf

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Heterogeneity of Cognitive Profiles in Children and Adolescents with Mild Intellectual Disability (MID).

International Journal Of Environmental Research And Public Health

Sajewicz-Radtke, Urszula U; Jurek, Paweł P; Olech, Michał M; Łada-Maśko, Ariadna B AB; Jankowska, Anna M AM; Radtke, Bartosz M BM

Publication Date: 2022-06-13

Variant appearance in text: NAGLU: 889C>T; Arg297Ter

PubMed Link: 35742482

Variant Present in the following documents:

• ijerph-19-07230.pdf

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: NAGLU: Arg297*; rs104894592

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_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: NAGLU: 889C>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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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: NAGLU: R297X; rs104894592

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Genes

La Cognata, Valentina V; Cavallaro, Sebastiano S

Publication Date: 2021-10-30

Variant appearance in text: NAGLU: 889C>T; Arg297Ter; rs104894592

PubMed Link: 34828358

Variant Present in the following documents:

• Main text
• genes-12-01750.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: NAGLU: R297*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Epidemiology of Mucopolysaccharidoses Update.

Diagnostics (Basel, Switzerland)

Çelik, Betul B; Tomatsu, Saori C SC; Tomatsu, Shunji S; Khan, Shaukat A SA

Publication Date: 2021-02-10

Variant appearance in text: NAGLU: 889C>T; R297X

PubMed Link: 33578874

Variant Present in the following documents:

• Main text
• diagnostics-11-00273.pdf

View BVdb publication page

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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: NAGLU: R297X

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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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: rs104894592

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Novel therapies for mucopolysaccharidosis type III.

Journal Of Inherited Metabolic Disease

Seker Yilmaz, Berna B; Davison, James J; Jones, Simon A SA; Baruteau, Julien J

Publication Date: 2021-01

Variant appearance in text: NAGLU: 889C>T

PubMed Link: 32944950

Variant Present in the following documents:

• JIMD-44-129.pdf

View BVdb publication page

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Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.

Molecular Genetics & Genomic Medicine

Pierzynowska, Karolina K; Mański, Arkadiusz A; Limanówka, Monika M; Wierzba, Jolanta J; Gaffke, Lidia L; Anikiej, Paulina P; Węgrzyn, Grzegorz G

Publication Date: 2020-09

Variant appearance in text: NAGLU: 889C>T; Arg297Ter

PubMed Link: 32578945

Variant Present in the following documents:

• Main text
• MGG3-8-e1356.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: NAGLU: 889C>T; R297*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: NAGLU: 889C>T; Arg297*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family.

Clinical Case Reports

Jain, Sweta S; Chaitanya, Vamsee V; Faruq, Mohammed M

Publication Date: 2018-12

Variant appearance in text: NAGLU: Arg297X

PubMed Link: 30564336

Variant Present in the following documents:

• Main text
• CCR3-6-2399.pdf

View BVdb publication page

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High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

Jimd Reports

Meijer, O L M OLM; van den Biggelaar, P P; Ofman, R R; Wijburg, F A FA; van Vlies, N N

Publication Date: 2018

Variant appearance in text: NAGLU: R297*

PubMed Link: 28836185

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epidemiology of mucopolysaccharidoses.

Molecular Genetics And Metabolism

Khan, Shaukat A SA; Peracha, Hira H; Ballhausen, Diana D; Wiesbauer, Alfred A; Rohrbach, Marianne M; Gautschi, Matthias M; Mason, Robert W RW; Giugliani, Roberto R; Suzuki, Yasuyuki Y; Orii, Kenji E KE; Orii, Tadao T; Tomatsu, Shunji S

Publication Date: 2017-07

Variant appearance in text: NAGLU: R297X

PubMed Link: 28595941

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: NAGLU: R297*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Journal Of Inherited Metabolic Disease

Meijer, O L M OLM; Welling, L L; Valstar, M J MJ; Hoefsloot, L H LH; Brüggenwirth, H T HT; van der Ploeg, A T AT; Ruijter, G J G GJG; Wagemans, T T; Wijburg, F A FA; van Vlies, N N

Publication Date: 2016-05

Variant appearance in text: NAGLU: 889C>T; Arg297*

PubMed Link: 26907177

Variant Present in the following documents:

• Main text
• 10545_2016_Article_9916.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs104894592

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.

Plos One

Mauri, Victor V; Lotfi, Parisa P; Segatori, Laura L; Sardiello, Marco M

Publication Date: 2013

Variant appearance in text: NAGLU: R297X

PubMed Link: 23840811

Variant Present in the following documents:

• Main text
• pone.0068060.pdf

View BVdb publication page

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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Journal Of Inherited Metabolic Disease

Valstar, Marlies J MJ; Bruggenwirth, Hennie T HT; Olmer, Renske R; Wevers, Ron A RA; Verheijen, Frans W FW; Poorthuis, Ben J BJ; Halley, Dicky J DJ; Wijburg, Frits A FA

Publication Date: 2010-12

Variant appearance in text: NAGLU: 889C>T; R297X

PubMed Link: 20852935

Variant Present in the following documents:

• Main text
• 10545_2010_Article_9199.pdf

View BVdb publication page

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