Advanced cell-based products generated via automated and manual manufacturing platforms under the quality by design principle: Are they equivalent or different?
Heliyon
Hoang, Duc M DM; Nguyen, Quyen T QT; Phan, Trang T K TTK; Ngo, Anh T L ATL; Pham, Phuong T PT; Bach, Trung Q TQ; Le, Phuong T T PTT; Bui, Hoa T P HTP; Thanh, Liem Nguyen LN
Publication Date: 2023-05
Variant appearance in text: RYR1: 325C>T; Arg109Trp
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: RYR1: 325C>T; Arg109Trp
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04
Variant appearance in text: RYR1: R109W; rs118192173
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Clinical Genetics
Reumers, Stacha F I SFI; Erasmus, Corrie E CE; Bouman, Karlijn K; Pennings, Maartje M; Schouten, Meyke M; Kusters, Benno B; Duijkers, Floor A M FAM; van der Kooi, Anneke A; Jaeger, Bregje B; Verschuuren-Bemelmans, Corien C CC; Faber, Catharina G CG; van Engelen, Baziel G BG; Kamsteeg, Erik-Jan EJ; Jungbluth, Heinz H; Voermans, Nicol C NC
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: RYR1: 325C>T; Arg109Trp
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Journal Of Neuromuscular Diseases
Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG
Publication Date: 2021
Variant appearance in text: RYR1: 325C>T; Arg109Trp
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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Acta Neuropathologica
Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR
Publication Date: 2020-06
Variant appearance in text: RYR1: 325C>T; Arg109Trp
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: RYR1: 325C>T; Arg109Trp; rs118192173
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Neurology
Matthews, Emma E; Neuwirth, Christoph C; Jaffer, Fatima F; Scalco, Renata S RS; Fialho, Doreen D; Parton, Matt M; Raja Rayan, Dipa D; Suetterlin, Karen K; Sud, Richa R; Spiegel, Roland R; Mein, Rachel R; Houlden, Henry H; Schaefer, Andrew A; Healy, Estelle E; Palace, Jacqueline J; Quinlivan, Ros R; Treves, Susan S; Holton, Janice L JL; Jungbluth, Heinz H; Hanna, Michael G MG
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Molecular Genetics & Genomic Medicine
Blackburn, Patrick R PR; Selcen, Duygu D; Gass, Jennifer M JM; Jackson, Jessica L JL; Macklin, Sarah S; Cousin, Margot A MA; Boczek, Nicole J NJ; Klee, Eric W EW; Dimberg, Elliot L EL; Kennelly, Kathleen D KD; Atwal, Paldeep S PS
Publication Date: 2017-05
Variant appearance in text: RYR1: 325C>T; Arg109Trp
Using exome data to identify malignant hyperthermia susceptibility mutations.
Anesthesiology
Gonsalves, Stephen G SG; Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Stenson, Peter D PD; Cooper, David N DN; Mullikin, James C JC; Biesecker, Leslie G LG; ,
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ