Publications:

---

Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Children (Basel, Switzerland)

Cantú-Reyna, Consuelo C; Vazquez-Cantu, Diana Laura DL; Cruz-Camino, Héctor H; Narváez-Díaz, Yuriria Arlette YA; Flores-Caloca, Óscar Ó; González-Llano, Óscar Ó; Araiza-Lozano, Carolina C; Gómez-Gutiérrez, René R

Publication Date: 2023-03-30

Variant appearance in text: IDUA: 965T>A; Val322Glu

PubMed Link: 37189891

Variant Present in the following documents:

• children-10-00642.pdf

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: IDUA: V322E; rs76722191

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Epidemiology of Mucopolysaccharidoses Update.

Diagnostics (Basel, Switzerland)

Çelik, Betul B; Tomatsu, Saori C SC; Tomatsu, Shunji S; Khan, Shaukat A SA

Publication Date: 2021-02-10

Variant appearance in text: IDUA: 965T>A; Val322Glu

PubMed Link: 33578874

Variant Present in the following documents:

• Main text
• diagnostics-11-00273.pdf

View BVdb publication page

---

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: rs76722191

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.

International Journal Of Neonatal Screening

Kubaski, Francyne F; Sousa, Inês I; Amorim, Tatiana T; Pereira, Danilo D; Trometer, Joe J; Souza, Alexandre A; Ranieri, Enzo E; Polo, Giulia G; Burlina, Alberto A; Brusius-Facchin, Ana Carolina AC; Netto, Alice Brinckmann Oliveira ABO; Tomatsu, Shunji S; Giugliani, Roberto R

Publication Date: 2020-11-13

Variant appearance in text: IDUA: Val322Glu

PubMed Link: 33203019

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.

International Journal Of Neonatal Screening

Yu, Seok-Ho SH; Pollard, Laura L; Wood, Tim T; Flanagan-Steet, Heather H; Steet, Richard R

Publication Date: 2020-11-12

Variant appearance in text: IDUA: Val322Glu

PubMed Link: 33198351

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.

International Journal Of Neonatal Screening

Gragnaniello, Vincenza V; Gueraldi, Daniela D; Rubert, Laura L; Manzoni, Francesca F; Cazzorla, Chiara C; Giuliani, Antonella A; Polo, Giulia G; Salviati, Leonardo L; Burlina, Alberto A

Publication Date: 2020-11-02

Variant appearance in text: IDUA: V322E

PubMed Link: 33147872

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.

International Journal Of Neonatal Screening

Washburn, Jon J; Millington, David S DS

Publication Date: 2020-10-08

Variant appearance in text: IDUA: V322E

PubMed Link: 33124616

Variant Present in the following documents:

• Main text
• IJNS-06-00078.pdf

View BVdb publication page

---

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

International Journal Of Neonatal Screening

Burlina, Alberto B AB; Polo, Giulia G; Rubert, Laura L; Gueraldi, Daniela D; Cazzorla, Chiara C; Duro, Giovanni G; Salviati, Leonardo L; Burlina, Alessandro P AP

Publication Date: 2019-06

Variant appearance in text: IDUA: V322E

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.pdf

View BVdb publication page

---

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: V322E

PubMed Link: 31194252

Variant Present in the following documents:

• Main text
• CGE-96-281.pdf

View BVdb publication page

---

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: Val322Glu

PubMed Link: 30442161

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Newborn screening in mucopolysaccharidoses.

Italian Journal Of Pediatrics

Donati, Maria Alice MA; Pasquini, Elisabetta E; Spada, Marco M; Polo, Giulia G; Burlina, Alberto A

Publication Date: 2018-11-16

Variant appearance in text: IDUA: 965T>A

PubMed Link: 30442156

Variant Present in the following documents:

• Main text
• 13052_2018_Article_552.pdf

View BVdb publication page

---

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Khalil, Raida R; Kenny, Connor C; Hill, R Sean RS; Mochida, Ganeshwaran H GH; Nasir, Ramzi R; Partlow, Jennifer N JN; Barry, Brenda J BJ; Al-Saffar, Muna M; Egan, Chloe C; Stevens, Christine R CR; Gabriel, Stacey B SB; Barkovich, A James AJ; Ellison, Jay W JW; Al-Gazali, Lihadh L; Walsh, Christopher A CA; Chahrour, Maria H MH

Publication Date: 2018-12

Variant appearance in text: IDUA: V322E

PubMed Link: 30421579

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

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

Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ

Publication Date: 2019-03

Variant appearance in text: IDUA: 965T>A; V322E

PubMed Link: 30093709

Variant Present in the following documents:

• Main text
• nihms-1505461.pdf

View BVdb publication page

---

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.

Molecular Genetics And Metabolism Reports

Mashima, Ryuichi R; Okuyama, Torayuki T

Publication Date: 2017-09

Variant appearance in text: IDUA: V322E

PubMed Link: 28725570

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: V322E; rs76722191

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: IDUA: V322E

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---