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: MPO: 1555_1568del; Met519fs
Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Camp, Sabrina Y SY; Kofman, Eric E; Reardon, Brendan B; Moore, Nathanael D ND; Al-Rubaish, Abdullah M AM; Aljumaan, Mohammed M; Al-Ali, Amein K AK; Van Allen, Eliezer M EM; Taylor-Weiner, Amaro A; AlDubayan, Saud H SH
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
American Journal Of Human Genetics
Vergnano, Marta M; Mockenhaupt, Maja M; Benzian-Olsson, Natashia N; Paulmann, Maren M; Grys, Katarzyna K; Mahil, Satveer K SK; Chaloner, Charlotte C; Barbosa, Ines A IA; August, Suzannah S; Burden, A David AD; Choon, Siew-Eng SE; Cooper, Hywel H; Navarini, Alex A AA; Reynolds, Nick J NJ; Wahie, Shyamal S; Warren, Richard B RB; Wright, Andrew A; , ; Huffmeier, Ulrike U; Baum, Patrick P; Visvanathan, Sudha S; Barker, Jonathan N JN; Smith, Catherine H CH; Capon, Francesca F
Publication Date: 2020-09-03
Variant appearance in text: MPO: 1555_1568del; Met519Profs
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
American Journal Of Human Genetics
Haskamp, Stefan S; Bruns, Heiko H; Hahn, Madelaine M; Hoffmann, Markus M; Gregor, Anne A; Löhr, Sabine S; Hahn, Jonas J; Schauer, Christine C; Ringer, Mark M; Flamann, Cindy C; Frey, Benjamin B; Lesner, Adam A; Thiel, Christian T CT; Ekici, Arif B AB; von Hörsten, Stephan S; Aßmann, Gunter G; Riepe, Claudia C; Euler, Maximilien M; Schäkel, Knut K; Philipp, Sandra S; Prinz, Jörg C JC; Mößner, Rotraut R; Kersting, Florina F; Sticherling, Michael M; Sefiani, Abdelaziz A; Lyahyai, Jaber J; Sondermann, Wiebke W; Oji, Vinzenz V; Schulz, Peter P; Wilsmann-Theis, Dagmar D; Sticht, Heinrich H; Schett, Georg G; Reis, André A; Uebe, Steffen S; Frey, Silke S; Hüffmeier, Ulrike U
Publication Date: 2020-09-03
Variant appearance in text: MPO: 1555_1568del; Met519Profs*21
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: MPO: 1555_1568delATGGAACCCAACCC; Met519fs
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: MPO: 1555_1568delATGGAACCCAACCC; Met519fs
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
Publication Date: 2019-02-07
Variant appearance in text: MPO: 1555_1568del; M519fs
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