Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree.
Molecular Psychiatry
Halvorsen, Matthew M; Szatkiewicz, Jin J; Mudgal, Poorva P; Yu, Dongmei D; , ; Nordsletten, Ashley E AE; Mataix-Cols, David D; Mathews, Carol A CA; Scharf, Jeremiah M JM; Mattheisen, Manuel M; Robertson, Mary M MM; McQuillin, Andrew A; Crowley, James J JJ
Publication Date: 2021-12
Variant appearance in text: PIP5K1C: 991C>T; Arg331Cys; rs146890276
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03
Variant appearance in text: PIP5K1C: 991C>T; Arg331Cys; rs146890276
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y