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: SHH: 676G>A; Ala226Thr
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
International Journal Of Molecular Sciences
de la Fuente, Lorena L; Del Pozo-Valero, Marta M; Perea-Romero, Irene I; Blanco-Kelly, Fiona F; Fernández-Caballero, Lidia L; Cortón, Marta M; Ayuso, Carmen C; Mínguez, Pablo 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
Publication Date: 2019-10
Variant appearance in text: SHH: 676G>A; Ala226Thr; rs104894043
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
Ishida, M M; Cullup, T T; Boustred, C C; James, C C; Docker, J J; English, C C; , ; Lench, N N; Copp, A J AJ; Moore, G E GE; Greene, N D E NDE; Stanier, P P
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: SHH: 676G>A; A226T; rs104894043
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Human Mutation
Roessler, Erich E; El-Jaick, Kenia B KB; Dubourg, Christèle C; Vélez, Jorge I JI; Solomon, Benjamin D BD; Pineda-Alvarez, Daniel E DE; Lacbawan, Felicitas F; Zhou, Nan N; Ouspenskaia, Maia M; Paulussen, Aimée A; Smeets, Hubert J HJ; Hehr, Ute U; Bendavid, Claude C; Bale, Sherri S; Odent, Sylvie S; David, Véronique V; Muenke, Maximilian M