Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
The Journal Of Clinical Endocrinology And Metabolism
Rossi, Alessandro A; Venema, Annieke A; Haarsma, Petra P; Feldbrugge, Lude L; Burghard, Rob R; Rodriguez-Buritica, David D; Parenti, Giancarlo G; Oosterveer, Maaike H MH; Derks, Terry G J TGJ
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: G6PC: 247C>T; rs1801175
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis.
International Journal Of Neonatal Screening
Niba, Emma Tabe Eko ETE; Wijaya, Yogik Onky Silvana YOS; Awano, Hiroyuki H; Taniguchi, Naoko N; Takeshima, Yasuhiro Y; Nishio, Hisahide H; Shinohara, Masakazu M
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Nutrients
Derks, Terry G J TGJ; Rodriguez-Buritica, David F DF; Ahmad, Ayesha A; de Boer, Foekje F; Couce, María L ML; Grünert, Sarah C SC; Labrune, Philippe P; López Maldonado, Nerea N; Fischinger Moura de Souza, Carolina C; Riba-Wolman, Rebecca R; Rossi, Alessandro A; Saavedra, Heather H; Gupta, Rupal Naik RN; Valayannopoulos, Vassili V; Mitchell, John J
Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.
Human Molecular Genetics
Monteillet, Laure L; Labrune, Philippe P; Hochuli, Michel M; Do Cao, Jeremy J; Tortereau, Antonin A; Miliano, Alexane Cannella AC; Ardon-Zitoun, Carine C; Duchampt, Adeline A; Silva, Marine M; Verzieux, Vincent V; Mithieux, Gilles G; Rajas, Fabienne F
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Jama Network Open
Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH
A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.
Quantitative Imaging In Medicine And Surgery
Li, Xiaoming X; Jing, Hui H; Cheng, Lin L; Xia, Jie J; Wang, Jian J; Li, Qing Q; Liu, Chen C; Cai, Ping P
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Biological Pathways Leading From ANGPTL8 to Diabetes Mellitus-A Co-expression Network Based Analysis.
Frontiers In Physiology
Siddiqa, Amnah A; Cirillo, Elisa E; Tareen, Samar H K SHK; Ali, Amjad A; Kutmon, Martina M; Eijssen, Lars M T LMT; Ahmad, Jamil J; Evelo, Chris T CT; Coort, Susan L SL
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Journal Of Inherited Metabolic Disease
Peeks, Fabian F; Steunenberg, Thomas A H TAH; de Boer, Foekje F; Rubio-Gozalbo, M Estela ME; Williams, Monique M; Burghard, Rob R; Rajas, Fabienne F; Oosterveer, Maaike H MH; Weinstein, David A DA; Derks, Terry G J TGJ
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Plos One
Delio, Maria M; Patel, Kunjan K; Maslov, Alex A; Marion, Robert W RW; McDonald, Thomas V TV; Cadoff, Evan M EM; Golden, Aaron A; Greally, John M JM; Vijg, Jan J; Morrow, Bernice B; Montagna, Cristina C