The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.
Journal Of Personalized Medicine
Foss, Kimberly S KS; O'Daniel, Julianne M JM; Berg, Jonathan S JS; Powell, Sabrina N SN; Cadigan, Rosemary Jean RJ; Kuczynski, Kristine J KJ; Milko, Laura V LV; Saylor, Katherine W KW; Roberts, Megan M; Weck, Karen K; Henderson, Gail E GE
Ultrasound-detected inflammation is more common in clinically manifest hand osteoarthritis than in painless bony enlarged finger joints: subanalysis of the population-based Bruneck study.
Therapeutic Advances In Musculoskeletal Disease
Gasperi, Nina N; Schreiber, Nikolaus N; Bosch, Philipp P; Adinolfi, Antonella A; Kleyer, Arnd A; Hagen, Melanie M; Gasperi, Christiane C; Weger, Martin M; Kiechl, Stefan S; Willeit, Johann J; Schett, Georg G; Iagnocco, Annamaria A; Gasperi, Arno A; Mayr, Agnes A; Dejaco, Christian C
Association of Endogenous Erythropoietin Levels and Iron Status With Cognitive Functioning in the General Population.
Frontiers In Aging Neuroscience
Ayerdem, Gizem G; Bosma, Matthijs J MJ; Vinke, Joanna Sophia J JSJ; Ziengs, Aaltje L AL; Potgieser, Adriaan R E ARE; Gansevoort, Ron T RT; Bakker, Stephan J L SJL; De Borst, Martin H MH; Eisenga, Michele F MF
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
International Journal Of Molecular Sciences
Alvarez-Mora, Maria Isabel MI; Blanco-Palmero, Victor Antonio VA; Quesada-Espinosa, Juan Francisco JF; Arteche-Lopez, Ana Rosa AR; Llamas-Velasco, Sara S; Palma Milla, Carmen C; Lezana Rosales, Jose Miguel JM; Gomez-Manjon, Irene I; Hernandez-Lain, Aurelio A; Jimenez Almonacid, Justino J; Gil-Fournier, Belén B; Ramiro-León, Soraya S; González-Sánchez, Marta M; Herrero-San Martín, Alejandro Octavio AO; Pérez-Martínez, David Andrés DA; Gómez-Tortosa, Estrella E; Carro, Eva E; Bartolomé, Fernando F; Gomez-Rodriguez, Maria Jose MJ; Sanchez-Calvin, María Teresa MT; Villarejo-Galende, Alberto A; Moreno-Garcia, Marta M
Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.
Genes
Lutokhina, Yulia Y; Blagova, Olga O; Panferov, Alexander A; Sedov, Vsevolod V; Kogan, Evgeniya E; Nekrasova, Tatiana T; Nedostup, Alexander A; Zaklyazminskaya, Elena E
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.
Frontiers In Genetics
Gratton, Jasmine J; Finan, Chris C; Hingorani, Aroon D AD; Humphries, Steve E SE; Futema, Marta M
Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.
European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Publication Date: 2022-04-16
Variant appearance in text: HFE: 845G>A; rs1800562
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08
Variant appearance in text: HFE: 845G>A; Cys282Tyr
An exploratory pilot study on the involvement of APOE, HFE, C9ORF72 variants and comorbidities in neurocognitive and physical performance in a group of HIV-infected people.
Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss.
Bmj Open
Aldubayan, Mona Adnan MA; Pigsborg, Kristina K; Gormsen, Sophia M O SMO; Serra, Francisca F; Palou, Mariona M; Mena, Pedro P; Wetzels, Mart M; Calleja, Alberto A; Caimari, Antoni A; Del Bas, Josep J; Gutierrez, Biotza B; Magkos, Faidon F; Hjorth, Mads Fiil MF
Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations.
Biology
Aboagye, Elvis Twumasi ET; Adadey, Samuel Mawuli SM; Esoh, Kevin K; Jonas, Mario M; de Kock, Carmen C; Amenga-Etego, Lucas L; Awandare, Gordon A GA; Wonkam, Ambroise A
Publication Date: 2022-03-21
Variant appearance in text: HFE: 845G>A; Cys282Tyr
A Bioinformatics-Assisted Review on Iron Metabolism and Immune System to Identify Potential Biomarkers of Exercise Stress-Induced Immunosuppression.
Biomedicines
Bonilla, Diego A DA; Moreno, Yurany Y; Petro, Jorge L JL; Forero, Diego A DA; Vargas-Molina, Salvador S; Odriozola-Martínez, Adrián A; Orozco, Carlos A CA; Stout, Jeffrey R JR; Rawson, Eric S ES; Kreider, Richard B RB
Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.
Journal Of The American Heart Association
Olmastroni, Elena E; Gazzotti, Marta M; Arca, Marcello M; Averna, Maurizio M; Pirillo, Angela A; Catapano, Alberico Luigi AL; Casula, Manuela M; ,
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
Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.
Journal Of Clinical Medicine
Brunclikova, Monika M; Simurda, Tomas T; Zolkova, Jana J; Sterankova, Miroslava M; Skornova, Ingrid I; Dobrotova, Miroslava M; Kolkova, Zuzana Z; Loderer, Dusan D; Grendar, Marian M; Hudecek, Jan J; Stasko, Jan J; Kubisz, Peter P
Rare co-inherited alpha-thalassemia minor and beta-thalassemia minor with heterozygous H63D mutation mistaken as iron deficiency anemia: a case report.
Ame Case Reports
Chaudhry, Arooj Fatima AF; Malik, Zulfiqar Z; Shegos, Cameron Joseph CJ
Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank.
Molecular Psychiatry
Chambers, Tom T; Escott-Price, Valentina V; Legge, Sophie S; Baker, Emily E; Singh, Krish D KD; Walters, James T R JTR; Caseras, Xavier X; Anney, Richard J L RJL
Publication Date: 2022-01-25
Variant appearance in text: HFE: Cys282Tyr; rs1800562
Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period.
Genes
Acevedo, Luis Alfredo Utria LAU; Alvarenga, Aline Morgan AM; Fonseca, Paula Fernanda Silva PFS; da Silva, Nathália Kozikas NK; Cançado, Rodolfo Delfini RD; Naoum, Flavio Augusto FA; Dinardo, Carla Luana CL; Pereira, Alexandre Costa AC; Brissot, Pierre P; Santos, Paulo Caleb Junior Lima PCJL
Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.
Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Tim T; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis.
Hgg Advances
Jarvik, Gail P GP; Wang, Xiaoliang X; Fontanillas, Pierre P; Kim, Esther E; Chanprasert, Sirisak S; Gordon, Adam S AS; Bastarache, Lisa L; Kowdley, Kris V KV; Harrison, Tabitha T; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Bézieau, Stéphane S; Weinstein, Stephanie J SJ; Newcomb, Polly A PA; Casey, Graham G; Platz, Elizabeth A EA; Visvanathan, Kala K; Le Marchand, Loic L; Ulrich, Cornelia M CM; Hardikar, Sheetal S; Li, Christopher I CI; van Duijnhoven, Franzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Victor V; Vodička, Pavel P; Brenner, Hermann H; Chang-Claude, Jenny J; Hoffmeister, Michael M; Slattery, Martha L ML; Gunter, Marc J MJ; Aglago, Elom K EK; Castellví-Bel, Sergi S; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Giles, Graham G GG; Rennert, Gad G; Offit, Kenneth K; Keku, Temitope O TO; Woods, Michael O MO; Hampe, Jochen J; Van Guelpen, Bethan B; Gallinger, Steven J SJ; de la Chapelle, Albert A; Hampel, Heather H; Berndt, Sonja I SI; Tangen, Catherine M CM; Lindblom, Annika A; Wolk, Alicja A; Burnett-Hartman, Andrea A; Wu, Anna H AH; White, Emily E; , ; Gruber, Stephen B SB; Jenkins, Mark A MA; Mountain, Joanna J; Peters, Ulrike U; Crosslin, David R DR
Publication Date: 2020-10-22
Variant appearance in text: HFE: 845G>A; Cys282Tyr; rs1800562
Association of Habitual Dietary Intake with Liver Iron-A Population-Based Imaging Study.
Nutrients
Filler, Jule J; von Krüchten, Ricarda R; Wawro, Nina N; Maier, Lisa L; Lorbeer, Roberto R; Nattenmüller, Johanna J; Thorand, Barbara B; Bamberg, Fabian F; Peters, Annette A; Schlett, Christopher L CL; Linseisen, Jakob J; Rospleszcz, Susanne S
HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.
Hgg Advances
Bolze, Alexandre A; Neveux, Iva I; Schiabor Barrett, Kelly M KM; White, Simon S; Isaksson, Magnus M; Dabe, Shaun S; Lee, William W; Grzymski, Joseph J JJ; Washington, Nicole L NL; Cirulli, Elizabeth T ET
Hereditary Hemochromatosis: A Cardiac Perspective.
Cureus
Joshi, Pranay K PK; Patel, Saawan C SC; Shreya, Devarashetty D; Zamora, Diana I DI; Patel, Gautami S GS; Grossmann, Idan I; Rodriguez, Kevin K; Soni, Mridul M; Sange, Ibrahim I
Pediatric Chemotherapy Drugs Associated With Cardiotoxicity.
Cureus
Hitawala, Gazala G; Jain, Esha E; Castellanos, Lisett L; Garimella, Radhika R; Akku, Radhika R; Chamavaliyathil, Adila K AK; Irfan, Huma H; Jaiswal, Vikash V; Quinonez, Jonathan J; Dakroub, Maher M; Hanif, Muhammad M; Baloch, Ali H AH; Gomez, Ivan S IS; Dylewski, John J
Distribution and Associated Factors of Hepatic Iron-A Population-Based Imaging Study.
Metabolites
Maier, Lisa L; von Krüchten, Ricarda R; Lorbeer, Roberto R; Filler, Jule J; Nattenmüller, Johanna J; Thorand, Barbara B; Koenig, Wolfgang W; Rathmann, Wolfgang W; Bamberg, Fabian F; Schlett, Christopher L CL; Peters, Annette A; Rospleszcz, Susanne S
Can lightning strike twice? Wild-type transthyretin cardiac amyloidosis associated with rare liver disease.
Oxford Medical Case Reports
Bhattacharya, Priyanka T PT; Fox, Alyson N AN; Marboe, Charles C CC; Lagana, Stephen M SM; Remotti, Helen E HE; D'Armiento, Jeanine M JM; Goldklang, Monica P MP; Eisenberger, Andrew B AB; Griffin, Jan M JM; Maurer, Mathew S MS