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: 1139A>G; Gln380Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

International Journal Of Molecular Sciences

Chuang, Chih-Kuang CK; Tu, Yuan-Rong YR; Lee, Chung-Lin CL; Lo, Yun-Ting YT; Chang, Ya-Hui YH; Liu, Mei-Ying MY; Liu, Hsin-Yun HY; Chen, Hsiao-Jan HJ; Kao, Shu-Min SM; Wang, Li-Yun LY; Ho, Huey-Jane HJ; Lin, Hsiang-Yu HY; Lin, Shuan-Pei SP

Publication Date: 2022-09-01

Variant appearance in text: IDUA: 1139A>G; Q380R

PubMed Link: 36077388

Variant Present in the following documents:

• ijms-23-09979.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: 1139A>G; Gln380Arg

PubMed Link: 35141277

Variant Present in the following documents:

• Main text
• fmolb-08-783644.pdf

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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: rs762903007

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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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: Gln380Arg

PubMed Link: 32188113

Variant Present in the following documents:

• Main text
• diagnostics-10-00161.pdf

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Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

Molecular Genetics And Metabolism

Chen, Agnes H AH; Harmatz, Paul P; Nestrasil, Igor I; Eisengart, Julie B JB; King, Kelly E KE; Rudser, Kyle K; Kaizer, Alexander M AM; Svatkova, Alena A; Wakumoto, Amy A; Le, Steven Q SQ; Madden, Jacqueline J; Young, Sarah S; Zhang, Haoyue H; Polgreen, Lynda E LE; Dickson, Patricia I PI

Publication Date: 2020-02

Variant appearance in text: IDUA: Q380R

PubMed Link: 31839529

Variant Present in the following documents:

• Main text

View BVdb publication page

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A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.

Molecular Genetics And Metabolism Reports

Ahmed, Alia A; Ou, Li L; Rudser, Kyle K; Shapiro, Elsa E; Eisengart, Julie B JB; King, Kelly K; Chen, Agnes A; Dickson, Patricia P; Whitley, Chester B CB

Publication Date: 2019-09

Variant appearance in text: IDUA: Q380R

PubMed Link: 31304092

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Q380R

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: Q380R

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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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: Q380R

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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Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

Molecular Genetics And Metabolism

Ahmed, Alia A; Whitley, Chester B CB; Cooksley, Renee R; Rudser, Kyle K; Cagle, Stephanie S; Ali, Nadia N; Delaney, Kathleen K; Yund, Brianna B; Shapiro, Elsa E

Publication Date: 2014-02

Variant appearance in text: IDUA: Q380R

PubMed Link: 24368159

Variant Present in the following documents:

• Main text

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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: Q380R

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

American Journal Of Medical Genetics. Part A

Vazna, Alzbeta A; Beesley, Clare C; Berna, Linda L; Stolnaja, Larisa L; Myskova, Helena H; Bouckova, Michaela M; Vlaskova, Hana H; Poupetova, Helena H; Zeman, Jiri J; Magner, Martin M; Hlavata, Anna A; Winchester, Bryan B; Hrebicek, Martin M; Dvorakova, Lenka L

Publication Date: 2009-05

Variant appearance in text: IDUA: 1139A>G; Q380R

PubMed Link: 19396826

Variant Present in the following documents:

• Main text
• ajmg0149A-0965.pdf

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