Publications:

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Recent Genome-Editing Approaches toward Post-Implanted Fetuses in Mice.

Biotech (Basel (Switzerland))

Nakamura, Shingo S; Inada, Emi E; Saitoh, Issei I; Sato, Masahiro M

Publication Date: 2023-05-11

Variant appearance in text: N/A

PubMed Link: 37218754

Variant Present in the following documents:

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Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Children (Basel, Switzerland)

Cantú-Reyna, Consuelo C; Vazquez-Cantu, Diana Laura DL; Cruz-Camino, Héctor H; Narváez-Díaz, Yuriria Arlette YA; Flores-Caloca, Óscar Ó; González-Llano, Óscar Ó; Araiza-Lozano, Carolina C; Gómez-Gutiérrez, René R

Publication Date: 2023-03-30

Variant appearance in text: IDUA: 1205G>A; W402X

PubMed Link: 37189891

Variant Present in the following documents:

• Main text
• children-10-00642.pdf

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ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.

Frontiers In Genetics

Kaplun, Ludmila L; Krautz-Peterson, Greice G; Neerman, Nir N; Stanley, Christine C; Hussey, Shane S; Folwick, Margo M; McGarry, Ava A; Weiss, Shirel S; Kaplun, Alexander A

Publication Date: 2023

Variant appearance in text: IDUA: 1205G>A; W402X

PubMed Link: 37152986

Variant Present in the following documents:

• Main text
• fgene-14-1145285.pdf

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Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).

International Journal Of Molecular Sciences

Siddiqui, Amna A; Dundar, Halil H; Sharma, Jyoti J; Kaczmarczyk, Aneta A; Echols, Josh J; Dai, Yanying Y; Sun, Chuanxi Richard CR; Du, Ming M; Liu, Zhong Z; Zhao, Rui R; Wood, Tim T; Sanders, Shalisa S; Rasmussen, Lynn L; Bostwick, James Robert JR; Augelli-Szafran, Corinne C; Suto, Mark M; Rowe, Steven M SM; Bedwell, David M DM; Keeling, Kim M KM

Publication Date: 2023-02-24

Variant appearance in text: IDUA: W402X

PubMed Link: 36901952

Variant Present in the following documents:

• Main text
• ijms-24-04521.pdf

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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: IDUA: 1205G>A; Trp402Ter

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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Nucleoside analogs in ADAR guide strands targeting 5'-UA̲ sites.

Rsc Chemical Biology

Brinkman, Hannah F HF; Jauregui Matos, Victorio V; Mendoza, Herra G HG; Doherty, Erin E EE; Beal, Peter A PA

Publication Date: 2023-01-04

Variant appearance in text: IDUA: W402X

PubMed Link: 36685257

Variant Present in the following documents:

• CB-004-D2CB00165A.pdf

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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.

Bone Marrow Transplantation

Gardin, Antoine A; Castelle, Martin M; Pichard, Samia S; Cano, Aline A; Chabrol, Brigitte B; Piarroux, Julie J; Roubertie, Agathe A; Nadjar, Yann Y; Guemann, Anne-Sophie AS; Tardieu, Marine M; Lacombe, Didier D; Robert, Matthieu P MP; Caillaud, Catherine C; Froissart, Roseline R; Leboeuf, Virginie V; Barbier, Valérie V; Bouchereau, Juliette J; Schiff, Manuel M; Fauroux, Brigitte B; Thierry, Briac B; Luscan, Romain R; James, Syril S; de Saint-Denis, Timothée T; Pannier, Stéphanie S; Gitiaux, Cyril C; Vergnaud, Estelle E; Boddaert, Nathalie N; Lascourreges, Claire C; Lemoine, Michel M; Bonnet, Damien D; Blanche, Stéphane S; Dalle, Jean-Hugues JH; Neven, Bénédicte B; de Lonlay, Pascale P; Brassier, Anaïs A

Publication Date: 2022-12-09

Variant appearance in text: IDUA: Trp402*

PubMed Link: 36494569

Variant Present in the following documents:

• Main text
• 41409_2022_Article_1886.pdf

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Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system.

Molecular Genetics And Metabolism Reports

Kim, Sarah S; Przybilla, Michael J MJ; Whitley, Chester B CB; Ou, Li L; Al-Kofahi, Mahmoud M; Jarnes, Jeanine R JR

Publication Date: 2022-12

Variant appearance in text: N/A

PubMed Link: 36159322

Variant Present in the following documents:

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: IDUA: 1205G>A; Trp402*

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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Ataluren suppresses a premature termination codon in an MPS I-H mouse.

Journal Of Molecular Medicine (Berlin, Germany)

Wang, Dan D; Xue, Xiaojiao X; Gunn, Gwen G; Du, Ming M; Siddiqui, Amna A; Weetall, Marla M; Keeling, Kim M KM

Publication Date: 2022-08

Variant appearance in text: IDUA: W402X

PubMed Link: 35857082

Variant Present in the following documents:

• Main text
• 109_2022_Article_2232.pdf

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Liver-directed gene therapy corrects neurologic disease in a murine model of mucopolysaccharidosis type I-Hurler.

Molecular Therapy. Methods & Clinical Development

Jin, Xiu X; Su, Jing J; Zhao, Qinyu Q; Li, Ruiting R; Xiao, Jianlu J; Zhong, Xiaomei X; Song, Li L; Liu, Yi Y; She, Kaiqin K; Deng, Hongxin H; Wei, Yuquan Y; Yang, Yang Y

Publication Date: 2022-06-09

Variant appearance in text: N/A

PubMed Link: 35573046

Variant Present in the following documents:

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Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I-A Mini-Review.

International Journal Of Molecular Sciences

Zapolnik, Paweł P; Pyrkosz, Antoni A

Publication Date: 2022-04-26

Variant appearance in text: IDUA: 1205G>A

PubMed Link: 35563175

Variant Present in the following documents:

• Main text
• ijms-23-04785.pdf

View BVdb publication page

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Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.

Genes

Cyske, Zuzanna Z; Gaffke, Lidia L; Pierzynowska, Karolina K; Węgrzyn, Grzegorz G

Publication Date: 2022-03-26

Variant appearance in text: IDUA: Trp402X

PubMed Link: 35456399

Variant Present in the following documents:

• Main text
• genes-13-00593.pdf

View BVdb publication page

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Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.

Frontiers In Cardiovascular Medicine

Stepien, Karolina M KM; Bentley, Andrew A; Chen, Cliff C; Dhemech, M Wahab MW; Gee, Edward E; Orton, Peter P; Pringle, Catherine C; Rajan, Jonathan J; Saxena, Ankur A; Tol, Govind G; Gadepalli, Chaitanya C

Publication Date: 2022

Variant appearance in text: MPSI: W402X

PubMed Link: 35321113

Variant Present in the following documents:

• fcvm-09-839391.pdf

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Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences

Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI

Publication Date: 2021

Variant appearance in text: IDUA: 1205G>A; Trp402Ter

PubMed Link: 35141277

Variant Present in the following documents:

• Main text
• fmolb-08-783644.pdf

View BVdb publication page

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Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.

Acta Dermato-Venereologica

Yu, Jiangfan J; Tang, Bingsi B; He, Xinglan X; Zou, Puyu P; Zeng, Zhuotong Z; Xiao, Rong R

Publication Date: 2022-02-28

Variant appearance in text: IDUA: W402X

PubMed Link: 35083492

Variant Present in the following documents:

• Main text

View BVdb publication page

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In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.

Plos One

Carneiro, Paola P; de Freitas, Martiela Vaz MV; Matte, Ursula U

Publication Date: 2022

Variant appearance in text: IDUA: Trp402*

PubMed Link: 35073349

Variant Present in the following documents:

• Main text
• pone.0262299.pdf

View BVdb publication page

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In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.

Plos One

Carneiro, Paola P; de Freitas, Martiela Vaz MV; Matte, Ursula U

Publication Date: 2022

Variant appearance in text: IDUA: Trp402*

PubMed Link: 35073349

Variant Present in the following documents:

• Main text
• pone.0262299.pdf

View BVdb publication page

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Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.

Metabolic Brain Disease

Gaffke, Lidia L; Szczudło, Zuzanna Z; Podlacha, Magdalena M; Cyske, Zuzanna Z; Rintz, Estera E; Mantej, Jagoda J; Krzelowska, Karolina K; Węgrzyn, Grzegorz G; Pierzynowska, Karolina K

Publication Date: 2021-12-20

Variant appearance in text: IDUA: Trp402X

PubMed Link: 34928474

Variant Present in the following documents:

• Main text
• 11011_2021_Article_892.pdf

View BVdb publication page

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Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.

Metabolic Brain Disease

Gaffke, Lidia L; Szczudło, Zuzanna Z; Podlacha, Magdalena M; Cyske, Zuzanna Z; Rintz, Estera E; Mantej, Jagoda J; Krzelowska, Karolina K; Węgrzyn, Grzegorz G; Pierzynowska, Karolina K

Publication Date: 2022-02

Variant appearance in text: IDUA: Trp402X

PubMed Link: 34928474

Variant Present in the following documents:

• Main text
• 11011_2021_Article_892.pdf

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: IDUA: Trp402Ter

PubMed Link: 34828358

Variant Present in the following documents:

• Main text
• genes-12-01750.pdf

View BVdb publication page

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Self-inactivating, all-in-one AAV vectors for precision Cas9 genome editing via homology-directed repair in vivo.

Nature Communications

Ibraheim, Raed R; Tai, Phillip W L PWL; Mir, Aamir A; Javeed, Nida N; Wang, Jiaming J; Rodríguez, Tomás C TC; Namkung, Suk S; Nelson, Samantha S; Khokhar, Eraj Shafiq ES; Mintzer, Esther E; Maitland, Stacy S; Chen, Zexiang Z; Cao, Yueying Y; Tsagkaraki, Emmanouela E; Wolfe, Scot A SA; Wang, Dan D; Pai, Athma A AA; Xue, Wen W; Gao, Guangping G; Sontheimer, Erik J EJ

Publication Date: 2021-11-01

Variant appearance in text: IDUA: W402X

PubMed Link: 34725353

Variant Present in the following documents:

• 41467_2021_Article_26518.pdf

View BVdb publication page

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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

International Journal Of Molecular Sciences

La Cognata, Valentina V; Guarnaccia, Maria M; Morello, Giovanna G; Ruggieri, Martino M; Polizzi, Agata A; Cavallaro, Sebastiano S

Publication Date: 2021-09-17

Variant appearance in text: IDUA: 1205G>A

PubMed Link: 34576242

Variant Present in the following documents:

• Main text
• ijms-22-10064.pdf

View BVdb publication page

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Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.

Heliyon

Carbajal-Rodríguez, Luis M LM; Pérez-García, Martín M; Rodríguez-Herrera, Raymundo R; Rosales, Haydeé Salazar HS; Olaya-Vargas, Alberto A

Publication Date: 2021-08

Variant appearance in text: IDUA: W402X

PubMed Link: 34458603

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.

Journal Of Clinical Medicine

Gadepalli, Chaitanya C; Stepien, Karolina M KM; Sharma, Reena R; Jovanovic, Ana A; Tol, Govind G; Bentley, Andrew A

Publication Date: 2021-07-24

Variant appearance in text: IDUA: Trp402Ter

PubMed Link: 34362059

Variant Present in the following documents:

• Main text
• jcm-10-03275.pdf

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: IDUA: 1205G>A; Trp402Ter

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: IDUA: 1205G>A; Trp402Ter

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.

Case Reports In Ophthalmological Medicine

Magalhães, Augusto A; Cunha, Ana Maria AM; Vilares-Morgado, Rodrigo R; Leão-Teles, Elisa E; Rodrigues, Esmeralda E; Falcão, Manuel M; Carneiro, Ângela Â; Breda, Jorge J; Falcão-Reis, Fernando F

Publication Date: 2021

Variant appearance in text: IDUA: W402X

PubMed Link: 34306784

Variant Present in the following documents:

• Main text
• CRIOPM2021-8866837.pdf

View BVdb publication page

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In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.

Nature Communications

Bose, Sourav K SK; White, Brandon M BM; Kashyap, Meghana V MV; Dave, Apeksha A; De Bie, Felix R FR; Li, Haiying H; Singh, Kshitiz K; Menon, Pallavi P; Wang, Tiankun T; Teerdhala, Shiva S; Swaminathan, Vishal V; Hartman, Heather A HA; Jayachandran, Sowmya S; Chandrasekaran, Prashant P; Musunuru, Kiran K; Jain, Rajan R; Frank, David B DB; Zoltick, Philip P; Peranteau, William H WH

Publication Date: 2021-07-13

Variant appearance in text: IDUA: W402X

PubMed Link: 34257302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts.

Glycobiology

Maccarana, Marco M; Tykesson, Emil E; Pera, Edgar M EM; Gouignard, Nadège N; Fang, Jianping J; Malmström, Anders A; Ghiselli, Giancarlo G; Li, Jin-Ping JP

Publication Date: 2021-11-18

Variant appearance in text: IDUA: W402X

PubMed Link: 34192316

Variant Present in the following documents:

• Main text
• cwab066.pdf

View BVdb publication page

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Rational Design of RNA Editing Guide Strands: Cytidine Analogs at the Orphan Position.

Journal Of The American Chemical Society

Doherty, Erin E EE; Wilcox, Xander E XE; van Sint Fiet, Lenka L; Kemmel, Cherie C; Turunen, Janne J JJ; Klein, Bart B; Tantillo, Dean J DJ; Fisher, Andrew J AJ; Beal, Peter A PA

Publication Date: 2021-05-12

Variant appearance in text: N/A

PubMed Link: 33939417

Variant Present in the following documents:

View BVdb publication page

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Effect of small molecule eRF3 degraders on premature termination codon readthrough.

Nucleic Acids Research

Baradaran-Heravi, Alireza A; Balgi, Aruna D AD; Hosseini-Farahabadi, Sara S; Choi, Kunho K; Has, Cristina C; Roberge, Michel M

Publication Date: 2021-04-19

Variant appearance in text: IDUA: 1205G>A; W402X

PubMed Link: 33764477

Variant Present in the following documents:

• Main text
• gkab194.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: IDUA: 1205G>A; Trp402*

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Diagnostics (Basel, Switzerland)

Sudrié-Arnaud, Bénédicte B; Snanoudj, Sarah S; Dabaj, Ivana I; Dranguet, Hélène H; Abily-Donval, Lenaig L; Lebas, Axel A; Vezain, Myriam M; Héron, Bénédicte B; Marie, Isabelle I; Duval-Arnould, Marc M; Marret, Stéphane S; Tebani, Abdellah A; Bekri, Soumeya S

Publication Date: 2021-02-12

Variant appearance in text: IDUA: 1205G>A; Trp402*

PubMed Link: 33673364

Variant Present in the following documents:

• diagnostics-11-00294-s001.xlsx, sheet 2
• diagnostics-11-00294-s001.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: IDUA: 1205G>A; W402X

PubMed Link: 33578874

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.

Biomolecules

Hampe, Christiane S CS; Wesley, Jacob J; Lund, Troy C TC; Orchard, Paul J PJ; Polgreen, Lynda E LE; Eisengart, Julie B JB; McLoon, Linda K LK; Cureoglu, Sebahattin S; Schachern, Patricia P; McIvor, R Scott RS

Publication Date: 2021-01-29

Variant appearance in text: N/A

PubMed Link: 33572941

Variant Present in the following documents:

View BVdb publication page

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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Orphanet Journal Of Rare Diseases

Guffon, N N; Pettazzoni, M M; Pangaud, N N; Garin, C C; Lina-Granade, G G; Plault, C C; Mottolese, C C; Froissart, R R; Fouilhoux, A A

Publication Date: 2021-01-31

Variant appearance in text: N/A

PubMed Link: 33517895

Variant Present in the following documents:

View BVdb publication page

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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.

Genetics And Molecular Biology

Josahkian, Juliana Alves JA; Trapp, Franciele Barbosa FB; Burin, Maira Graeff MG; Michelin-Tirelli, Kristiane K; Magalhães, Ana Paula Pereira Scholz de APPS; Sebastião, Fernanda Medeiros FM; Bender, Fernanda F; Mari, Jurema Fátima De JF; Brusius-Facchin, Ana Carolina AC; Leistner-Segal, Sandra S; Málaga, Diana Rojas DR; Giugliani, Roberto R

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33503199

Variant Present in the following documents:

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: IDUA: W402X

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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Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.

Biomed Research International

Nan, Haiyan H; Park, Chanbum C; Maeng, Sungho S

Publication Date: 2020

Variant appearance in text: N/A

PubMed Link: 33344633

Variant Present in the following documents:

View BVdb publication page

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Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

International Journal Of Molecular Sciences

Lombardi, Silvia S; Testa, Maria Francesca MF; Pinotti, Mirko M; Branchini, Alessio A

Publication Date: 2020-12-11

Variant appearance in text: N/A

PubMed Link: 33322589

Variant Present in the following documents:

View BVdb publication page

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Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors.

Cells

Lito, Silvin S; Sidibe, Adama A; Ilmjarv, Sten S; Burda, Patricie P; Baumgartner, Matthias M; Wehrle-Haller, Bernhard B; Krause, Karl-Heinz KH; Marteyn, Antoine A

Publication Date: 2020-12-03

Variant appearance in text: IDUA: 1205G>A; Trp402Ter

PubMed Link: 33287330

Variant Present in the following documents:

• Main text
• cells-09-02593.pdf

View BVdb publication page

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