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: GDF6: 125G>T; Gly42Val
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
International Journal Of Molecular Sciences
Iancu, Ionut-Florin IF; Perea-Romero, Irene I; Núñez-Moreno, Gonzalo G; de la Fuente, Lorena L; Romero, Raquel R; Ávila-Fernandez, Almudena A; Trujillo-Tiebas, María José MJ; Riveiro-Álvarez, Rosa R; Almoguera, Berta B; Martín-Mérida, Inmaculada I; Del Pozo-Valero, Marta M; Damián-Verde, Alejandra A; Cortón, Marta M; Ayuso, Carmen C; Minguez, Pablo P
Publication Date: 2022-07-29
Variant appearance in text: GDF6: 125G>T; Gly42Val
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
Npj Genomic Medicine
Iancu, Ionut-Florin IF; Avila-Fernandez, Almudena A; Arteche, Ana A; Trujillo-Tiebas, Maria Jose MJ; Riveiro-Alvarez, Rosa R; Almoguera, Berta B; Martin-Merida, Inmaculada I; Del Pozo-Valero, Marta M; Perea-Romero, Irene I; Corton, Marta M; Minguez, Pablo P; Ayuso, Carmen C
Publication Date: 2021-02-23
Variant appearance in text: GDF6: 125G>T; Gly42Val
High-depth African genomes inform human migration and health.
Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Publication Date: 2020-10
Variant appearance in text: GDF6: 125G>T; Gly42Val
Rare heterozygous GDF6 variants in patients with renal anomalies.
European Journal Of Human Genetics : Ejhg
Martens, Helge H; Hennies, Imke I; Getwan, Maike M; Christians, Anne A; Weiss, Anna-Carina AC; Brand, Frank F; Gjerstad, Ann Christin AC; Christians, Arne A; Gucev, Zoran Z; Geffers, Robert R; Seeman, Tomáš T; Kispert, Andreas A; Tasic, Velibor V; Bjerre, Anna A; Lienkamp, Soeren S SS; Haffner, Dieter D; Weber, Ruthild G RG
Publication Date: 2020-12
Variant appearance in text: GDF6: 125G>T; Gly42Val
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: GDF6: 125G>T; Gly42Val; rs121909354