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: 1487C>G; Pro496Arg

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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"Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients".

Molecular Genetics And Metabolism Reports

Cattoni, Alessandro A; Chiaraluce, Sofia S; Gasperini, Serena S; Molinari, Silvia S; Biondi, Andrea A; Rovelli, Attilio A; Parini, Rossella R

Publication Date: 2021-09

Variant appearance in text: IDUA: 1487C>G

PubMed Link: 34408967

Variant Present in the following documents:

• main.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: rs772416503

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: Pro496Arg

PubMed Link: 32188113

Variant Present in the following documents:

• Main text
• diagnostics-10-00161.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: IDUA: 1487C>G; Pro496Arg; rs772416503

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: P496R

PubMed Link: 31194252

Variant Present in the following documents:

• Main text
• CGE-96-281.pdf

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Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

European Journal Of Pediatrics

Zanetti, Alessandra A; D'Avanzo, Francesca F; Rigon, Laura L; Rampazzo, Angelica A; Concolino, Daniela D; Barone, Rita R; Volpi, Nicola N; Santoro, Lucia L; Lualdi, Susanna S; Bertola, Francesca F; Scarpa, Maurizio M; Tomanin, Rosella R

Publication Date: 2019-05

Variant appearance in text: MPSI: 1487C>G; rs772416503

PubMed Link: 30809705

Variant Present in the following documents:

• Main text
• 431_2019_Article_3341.pdf

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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Italian Journal Of Pediatrics

Filocamo, Mirella M; Tomanin, Rosella R; Bertola, Francesca F; Morrone, Amelia A

Publication Date: 2018-11-16

Variant appearance in text: IDUA: Pro496Arg

PubMed Link: 30442161

Variant Present in the following documents:

• Main text
• 13052_2018_Article_553.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: P496R; rs772416503

PubMed Link: 28676128

Variant Present in the following documents:

• Main text

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Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

Bmc Medical Genetics

Kwak, Min Jung MJ; Huh, Rimm R; Kim, Jinsup J; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2016-08-12

Variant appearance in text: IDUA: 1487C>G; P496R

PubMed Link: 27520059

Variant Present in the following documents:

• Main text
• 12881_2016_Article_319.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: P496R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: P496R

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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