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: 265C>T; Arg89Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: IDUA: R89W

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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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: 265C>T; R89W

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: R89W

PubMed Link: 35141277

Variant Present in the following documents:

• 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: rs754966840

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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Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research

Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV

Publication Date: 2021-01

Variant appearance in text: IDUA: R89W

PubMed Link: 32767816

Variant Present in the following documents:

• PCMR-34-122-s006.xlsx, sheet 1

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: IDUA: 265C>T; rs754966840

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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: Arg89Trp

PubMed Link: 32188113

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: IDUA: 265C>T; R89W

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.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: 265C>T; rs754966840

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: R89W

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: R89W

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: R89W

PubMed Link: 28676128

Variant Present in the following documents:

• Main text

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Open issues in Mucopolysaccharidosis type I-Hurler.

Orphanet Journal Of Rare Diseases

Parini, Rossella R; Deodato, Federica F; Di Rocco, Maja M; Lanino, Edoardo E; Locatelli, Franco F; Messina, Chiara C; Rovelli, Attilio A; Scarpa, Maurizio M

Publication Date: 2017-06-15

Variant appearance in text: IDUA: R89W

PubMed Link: 28619065

Variant Present in the following documents:

• Main text
• 13023_2017_Article_662.pdf

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Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.

Molecular Genetics And Metabolism Reports

Pineda, Tatiana T; Marie, Sulie S; Gonzalez, Janneth J; García, Ana L AL; Acosta, Amparo A; Morales, Manuel M; Correa, Luz N LN; Vivas, Ricardo R; Escobar, Xiomara X; Protzel, Ana A; Barba, Maria M; Ospina, Sandra S; Corredor, Clara C; Mansilla, Sandra S; Velasco, Harvy M HM

Publication Date: 2014

Variant appearance in text: IDUA: R89W

PubMed Link: 27896125

Variant Present in the following documents:

• Main text
• main.pdf

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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: 265C>T

PubMed Link: 27520059

Variant Present in the following documents:

• Main text
• 12881_2016_Article_319.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: IDUA: 265C>T; R89W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: R89W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: R89W

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: R89W

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Genetics And Molecular Biology

Giugliani, Roberto R; Federhen, Andressa A; Rojas, Maria Verônica Muñoz MV; Vieira, Taiane T; Artigalás, Osvaldo O; Pinto, Louise Lapagesse LL; Azevedo, Ana Cecília AC; Acosta, Angelina A; Bonfim, Carmen C; Lourenço, Charles Marques CM; Kim, Chong Ae CA; Horovitz, Dafne D; Bonfim, Denize D; Norato, Denise D; Marinho, Diane D; Palhares, Durval D; Santos, Emerson Santana ES; Ribeiro, Erlane E; Valadares, Eugênia E; Guarany, Fábio F; de Lucca, Gisele Rosone GR; Pimentel, Helena H; de Souza, Isabel Neves IN; Correa, Jordão J; Fraga, José Carlos JC; Goes, José Eduardo JE; Cabral, José Maria JM; Simionato, José J; Llerena, Juan J; Jardim, Laura L; Giuliani, Liane L; da Silva, Luiz Carlos Santana LC; Santos, Mara L ML; Moreira, Maria Angela MA; Kerstenetzky, Marcelo M; Ribeiro, Márcia M; Ruas, Nicole N; Barrios, Patricia P; Aranda, Paulo P; Honjo, Rachel R; Boy, Raquel R; Costa, Ronaldo R; Souza, Carolina C; Alcantara, Flavio F FF; Avilla, Silvio Gilberto A SG; Fagondes, Simone S; Martins, Ana Maria AM

Publication Date: 2010-10

Variant appearance in text: IDUA: R89W

PubMed Link: 21637564

Variant Present in the following documents:

• Main text
• gmb-33-4-589.pdf

View BVdb publication page

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