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: 192C>A; Tyr64Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: IDUA: 192C>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: rs121965022

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.

Journal Of Clinical Laboratory Analysis

Taghikhani, Mohammad M; Khatami, Shohreh S; Abdi, Mohammad M; Hakhamaneshi, Mohammad Said MS; Alaei, Mohammad Reza MR; Zamanfar, Daniel D; Vakili, Rahim R

Publication Date: 2019-10

Variant appearance in text: IDUA: Y64X

PubMed Link: 31386236

Variant Present in the following documents:

• Main text
• JCLA-33-e22963.pdf

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: IDUA: 192C>A; Tyr64Ter; rs121965022

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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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: Y64X

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases

Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N

Publication Date: 2013-07-09

Variant appearance in text: IDUA: Y64X

PubMed Link: 23837464

Variant Present in the following documents:

• Main text
• 1750-1172-8-99.pdf

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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Jimd Reports

Al-Jasmi, Fatma A FA; Tawfig, Nafisa N; Berniah, Ans A; Ali, Bassam R BR; Taleb, Mahmoud M; Hertecant, Jozef L JL; Bastaki, Fatma F; Souid, Abdul-Kader AK

Publication Date: 2013

Variant appearance in text: IDUA: 192C>A

PubMed Link: 23430803

Variant Present in the following documents:

• Main text

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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Genetics And Molecular Biology

Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G

Publication Date: 2011-04

Variant appearance in text: IDUA: Y64X

PubMed Link: 21734815

Variant Present in the following documents:

• Main text
• gmb-34-2-195.pdf

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