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: GAA: 2608C>T; Arg870Ter
Is the brain involved in patients with late-onset Pompe disease?
Journal Of Inherited Metabolic Disease
van den Dorpel, Jan J A JJA; van der Vlugt, Willemijn M C WMC; Dremmen, Marjolein H G MHG; Muetzel, Ryan R; van den Berg, Esther E; Hest, Roos R; de Kriek, Joni J; Brusse, Esther E; van Doorn, Pieter A PA; van der Ploeg, Ans T AT; van den Hout, Johanna M P JMP; van der Beek, Nadine A M E NAME
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: GAA: 2608C>T; Arg870Ter; rs780321415
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Frontiers In Immunology
Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Orphanet Journal Of Rare Diseases
Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG
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,
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Journal Of Neurology
Löscher, W N WN; Huemer, M M; Stulnig, T M TM; Simschitz, P P; Iglseder, S S; Eggers, C C; Moser, H H; Möslinger, D D; Freilinger, M M; Lagler, F F; Grinzinger, S S; Reichhardt, M M; Bittner, R E RE; Schmidt, W M WM; Lex, U U; Brunner-Krainz, M M; Quasthoff, S S; Wanschitz, J V JV
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
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: GAA: 2608C>T; Arg870Ter; rs780321415
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Plos One
Banugaria, Suhrad G SG; Prater, Sean N SN; Patel, Trusha T TT; Dearmey, Stephanie M SM; Milleson, Christie C; Sheets, Kathryn B KB; Bali, Deeksha S DS; Rehder, Catherine W CW; Raiman, Julian A J JA; Wang, Raymond A RA; Labarthe, Francois F; Charrow, Joel J; Harmatz, Paul P; Chakraborty, Pranesh P; Rosenberg, Amy S AS; Kishnani, Priya S PS
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Orphanet Journal Of Rare Diseases
Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS