Publications:

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Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.

Frontiers In Genetics

Gul, Rutaba R; Firasat, Sabika S; Schubert, Mikkel M; Ullah, Asmat A; Peña, Elionora E; Thuesen, Anne C B ACB; Hussain, Mulazim M; Staeger, Frederik F FF; Gjesing, Anette P AP; Albrechtsen, Anders A; Hansen, Torben T

Publication Date: 2023

Variant appearance in text: IDUA: 1469T>C; Leu490Pro; rs121965027

PubMed Link: 37091798

Variant Present in the following documents:

• Main text
• fgene-14-1128850.pdf

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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: 1469T>C; Leu490Pro

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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Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.

Journal Of Clinical Medicine

Gadepalli, Chaitanya C; Stepien, Karolina M KM; Sharma, Reena R; Jovanovic, Ana A; Tol, Govind G; Bentley, Andrew A

Publication Date: 2021-07-24

Variant appearance in text: IDUA: Leu490Pro

PubMed Link: 34362059

Variant Present in the following documents:

• Main text
• jcm-10-03275.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: rs121965027

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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Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.

Orphanet Journal Of Rare Diseases

Mansoor, Sumreena S

Publication Date: 2020-11-14

Variant appearance in text: IDUA: L490P

PubMed Link: 33189153

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1602.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: IDUA: 1469T>C; Leu490Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.

International Journal Of Molecular Sciences

Parini, Rossella R; Deodato, Federica F

Publication Date: 2020-04-23

Variant appearance in text: IDUA: Leu490Pro

PubMed Link: 32340185

Variant Present in the following documents:

• Main text
• ijms-21-02975.pdf

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: Leu490Pro

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: 1469T>C; Leu490Pro; rs121965027

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Molecular Genetics & Genomic Medicine

Jahic, Amir A; Günther, Sven S; Muschol, Nicole N; Fossøy Stadheim, Barbro B; Braaten, Øivind Ø; Kjensli Hyldebrandt, Hanne H; Kuiper, Gé-Ann GA; Tylee, Karen K; Wijburg, Frits A FA; Beetz, Christian C

Publication Date: 2019-09

Variant appearance in text: IDUA: 1469T>C; L490P

PubMed Link: 31319022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS.

Diseases (Basel, Switzerland)

Christensen, Chloe L CL; Ashmead, Rhea E RE; Choy, Francis Y M FYM

Publication Date: 2019-06-26

Variant appearance in text: IDUA: L490P

PubMed Link: 31248000

Variant Present in the following documents:

• Main text

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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: L490P

PubMed Link: 31194252

Variant Present in the following documents:

• Main text
• CGE-96-281.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: 1469T>C; Leu490Pro; rs121965027

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: L490P

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: IDUA: 1469T>C; Leu490Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: L490P

PubMed Link: 27896125

Variant Present in the following documents:

• Main text
• main.pdf

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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: L490P

PubMed Link: 26825088

Variant Present in the following documents:

• Main text

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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: L490P

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: L490P

PubMed Link: 24036510

Variant Present in the following documents:

• NIHMS3970-supplement-1.pdf

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Does the timing of treatment affect the ocular phenotype in patients with Mucopolysaccharidosis I homozygous for the L490P mutation?

Eye (London, England)

Chan, W H WH; Biswas, S S; Lloyd, I C IC; Wraith, E E; Jones, S S; Mercer, J J; Ashworth, J L JL

Publication Date: 2013-09

Variant appearance in text: MPSI: L490P

PubMed Link: 23743524

Variant Present in the following documents:

• Main text

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Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy.

Genetics And Molecular Biology

Viana, Gustavo M GM; de Lima, Nathália O NO; Cavaleiro, Rosely R; Alves, Erik E; Souza, Isabel C N IC; Feio, Raimunda R; Leistner-Segal, Sandra S; Schwartz, Ida I; Giugliani, Roberto R; da Silva, Luiz C Santana LC

Publication Date: 2011-07

Variant appearance in text: MPSI: Leu490Pro

PubMed Link: 21931511

Variant Present in the following documents:

• gmb-34-3-410.pdf

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