Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Publication Date: 2021-03-17
Variant appearance in text: FRAS1: 4648C>T; Leu1550Phe
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Cold Spring Harbor Molecular Case Studies
Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C
Publication Date: 2020-06
Variant appearance in text: FRAS1: 4648C>T; L1550F; rs148663672
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
American Journal Of Human Genetics
Karolak, Justyna A JA; Vincent, Marie M; Deutsch, Gail G; Gambin, Tomasz T; Cogné, Benjamin B; Pichon, Olivier O; Vetrini, Francesco F; Mefford, Heather C HC; Dines, Jennifer N JN; Golden-Grant, Katie K; Dipple, Katrina K; Freed, Amanda S AS; Leppig, Kathleen A KA; Dishop, Megan M; Mowat, David D; Bennetts, Bruce B; Gifford, Andrew J AJ; Weber, Martin A MA; Lee, Anna F AF; Boerkoel, Cornelius F CF; Bartell, Tina M TM; Ward-Melver, Catherine C; Besnard, Thomas T; Petit, Florence F; Bache, Iben I; Tümer, Zeynep Z; Denis-Musquer, Marie M; Joubert, Madeleine M; Martinovic, Jelena J; Bénéteau, Claire C; Molin, Arnaud A; Carles, Dominique D; André, Gwenaelle G; Bieth, Eric E; Chassaing, Nicolas N; Devisme, Louise L; Chalabreysse, Lara L; Pasquier, Laurent L; Secq, Véronique V; Don, Massimiliano M; Orsaria, Maria M; Missirian, Chantal C; Mortreux, Jérémie J; Sanlaville, Damien D; Pons, Linda L; Küry, Sébastien S; Bézieau, Stéphane S; Liet, Jean-Michel JM; Joram, Nicolas N; Bihouée, Tiphaine T; Scott, Daryl A DA; Brown, Chester W CW; Scaglia, Fernando F; Tsai, Anne Chun-Hui AC; Grange, Dorothy K DK; Phillips, John A JA; Pfotenhauer, Jean P JP; Jhangiani, Shalini N SN; Gonzaga-Jauregui, Claudia G CG; Chung, Wendy K WK; Schauer, Galen M GM; Lipson, Mark H MH; Mercer, Catherine L CL; van Haeringen, Arie A; Liu, Qian Q; Popek, Edwina E; Coban Akdemir, Zeynep H ZH; Lupski, James R JR; Szafranski, Przemyslaw P; Isidor, Bertrand B; Le Caignec, Cedric C; Stankiewicz, Paweł P
Publication Date: 2019-02-07
Variant appearance in text: FRAS1: 4648C>T; Leu1550Phe
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: FRAS1: L1550F; rs148663672
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: FRAS1: L1550F; rs148663672