In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.
Frontiers In Molecular Biosciences
Paul, Argho Aninda AA; Szulc, Natalia A NA; Kobiela, Adrian A; Brown, Sara J SJ; Pokrzywa, Wojciech W; Gutowska-Owsiak, Danuta D
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
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
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Bmc Cancer
Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Torti, Erin E; Keren, Boris B; Palmer, Elizabeth E EE; Zhu, Zehua Z; Afenjar, Alexandra A; Anderson, Ilse J IJ; Andrews, Marisa V MV; Atkinson, Celia C; Au, Margaret M; Berry, Susan A SA; Bowling, Kevin M KM; Boyle, Jackie J; Buratti, Julien J; Cathey, Sara S SS; Charles, Perrine P; Cogne, Benjamin B; Courtin, Thomas T; Escobar, Luis F LF; Finley, Sabra Ledare SL; Graham, John M JM; Grange, Dorothy K DK; Heron, Delphine D; Hewson, Stacy S; Hiatt, Susan M SM; Hibbs, Kathleen A KA; Jayakar, Parul P; Kalsner, Louisa L; Larcher, Lise L; Lesca, Gaetan G; Mark, Paul R PR; Miller, Kathryn K; Nava, Caroline C; Nizon, Mathilde M; Pai, G Shashidhar GS; Pappas, John J; Parsons, Gretchen G; Payne, Katelyn K; Putoux, Audrey A; Rabin, Rachel R; Sabatier, Isabelle I; Shinawi, Marwan M; Shur, Natasha N; Skinner, Steven A SA; Valence, Stephanie S; Warren, Hannah H; Whalen, Sandra S; Crunk, Amy A; Douglas, Ganka G; Monaghan, Kristin G KG; Person, Richard E RE; Willaert, Rebecca R; Solomon, Benjamin D BD; Juusola, Jane J