Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Molecular Genetics And Metabolism Reports
Gragnaniello, Vincenza V; Pijnappel, Pim W W M PWWM; Burlina, Alessandro P AP; In 't Groen, Stijn L M SLM; Gueraldi, Daniela D; Cazzorla, Chiara C; Maines, Evelina E; Polo, Giulia G; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB
Publication Date: 2022-12
Variant appearance in text: GAA: 1726G>A; Gly576Ser
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Neurology. Genetics
Wencel, Marie M; Shaibani, Aziz A; Goyal, Namita A NA; Dimachkie, Mazen M MM; Trivedi, Jaya J; Johnson, Nicholas E NE; Gutmann, Laurie L; Wicklund, Matthew P MP; Bandyopadhay, Sankar S; Genge, Angela L AL; Freimer, Miriam L ML; Goyal, Neelam N; Pestronk, Alan A; Florence, Julaine J; Karam, Chafic C; Ralph, Jeffrey W JW; Rasheed, Zinah Z; Hays, Melissa M; Hopkins, Steve S; Mozaffar, Tahseen T
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nature Communications
Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K
Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function.
Frontiers In Pediatrics
Liu, Meng-Chen MC; Wang, Ming-Tse MT; Chen, Philip Kuo-Ting PK; Niu, Dau-Ming DM; Fan Chiang, Yu-Hsuan YH; Hsieh, Ming-Hui MH; Tsai, Hsiao-Chien HC
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Frontiers In Immunology
De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02
Variant appearance in text: GAA: 1726G>A; Gly576Ser; rs1800307
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02
Variant appearance in text: GAA: 1726G>A; Gly576Ser; rs1800307
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
European Journal Of Human Genetics : Ejhg
Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP
Publication Date: 2021-03
Variant appearance in text: GAA: 1726G>A; Gly576Ser
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
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Aging
Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
International Journal Of Neonatal Screening
Hall, Patricia L PL; Sanchez, Rossana R; Hagar, Arthur F AF; Jerris, S Caleb SC; Wittenauer, Angela A; Wilcox, William R WR
Publication Date: 2020-03
Variant appearance in text: GAA: 1726G>A; Gly576Ser
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11
Variant appearance in text: GAA: 1726G>A; Gly576Ser
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Human Mutation
Niño, Monica Y MY; In 't Groen, Stijn L M SLM; Bergsma, Atze J AJ; van der Beek, Nadine A M E NAME; Kroos, Marian M; Hoogeveen-Westerveld, Marianne M; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Korean Journal Of Pediatrics
Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK
Publication Date: 2019-06
Variant appearance in text: GAA: 1726G>A; Gly576Ser
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry.
Molecular Genetics And Metabolism Reports
Mashima, Ryuichi R; Ohira, Mari M; Okuyama, Torayuki T; Tatsumi, Akiya A