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: IDUA: 1163C>G; Thr388Arg

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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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: Thr388Arg

PubMed Link: 36494569

Variant Present in the following documents:

• Main text
• 41409_2022_Article_1886.pdf

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: 1163C>G; Thr388Arg

PubMed Link: 33673364

Variant Present in the following documents:

• diagnostics-11-00294-s001.xlsx, sheet 1
• diagnostics-11-00294-s001.xlsx, sheet 2

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: rs794727896

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Mucopolysaccharidosis Type I.

Diagnostics (Basel, Switzerland)

Kubaski, Francyne F; de Oliveira Poswar, Fabiano F; Michelin-Tirelli, Kristiane K; Matte, Ursula da Silveira UDS; Horovitz, Dafne D DD; Barth, Anneliese Lopes AL; Baldo, Guilherme G; Vairo, Filippo F; Giugliani, Roberto R

Publication Date: 2020-03-16

Variant appearance in text: IDUA: Thr388Arg

PubMed Link: 32188113

Variant Present in the following documents:

• Main text
• diagnostics-10-00161.pdf

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Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clinical Genetics

Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J

Publication Date: 2019-10

Variant appearance in text: IDUA: T388R

PubMed Link: 31194252

Variant Present in the following documents:

• Main text
• CGE-96-281.pdf

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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: T388R; rs794727896

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

View BVdb publication page

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Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

Jimd Reports

Kunin-Batson, A S AS; Shapiro, E G EG; Rudser, K D KD; Lavery, C A CA; Bjoraker, K J KJ; Jones, S A SA; Wynn, R F RF; Vellodi, A A; Tolar, J J; Orchard, P J PJ; Wraith, J E JE

Publication Date: 2016

Variant appearance in text: IDUA: T388R

PubMed Link: 26825088

Variant Present in the following documents:

• Main text

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: IDUA: T388R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Nature Chemical Biology

Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN

Publication Date: 2013-11

Variant appearance in text: IDUA: T388R

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

View BVdb publication page

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