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: BRAF: 770A>G; Gln257Arg
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nature Communications
Bernkopf, Marie M; Abdullah, Ummi B UB; Bush, Stephen J SJ; Wood, Katherine A KA; Ghaffari, Sahar S; Giannoulatou, Eleni E; Koelling, Nils N; Maher, Geoffrey J GJ; Thibaut, Loïc M LM; Williams, Jonathan J; Blair, Edward M EM; Kelly, Fiona Blanco FB; Bloss, Angela A; Burkitt-Wright, Emma E; Canham, Natalie N; Deng, Alexander T AT; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Gardham, Alice A; Hay, Eleanor E; Holder, Muriel M; Homfray, Tessa T; Hurst, Jane A JA; Johnson, Diana D; Jones, Wendy D WD; Kini, Usha U; Kivuva, Emma E; Kumar, Ajith A; Lees, Melissa M MM; Leitch, Harry G HG; Morton, Jenny E V JEV; Németh, Andrea H AH; Ramachandrappa, Shwetha S; Saunders, Katherine K; Shears, Deborah J DJ; Side, Lucy L; Splitt, Miranda M; Stewart, Alison A; Stewart, Helen H; Suri, Mohnish M; Clouston, Penny P; Davies, Robert W RW; Wilkie, Andrew O M AOM; Goriely, Anne A
Publication Date: 2023-02-15
Variant appearance in text: BRAF: 770A>G; Gln257Arg
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: BRAF: 770A>G; Gln257Arg
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.
Jto Clinical And Research Reports
Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05
Variant appearance in text: BRAF: 770A>G; Gln257Arg
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Genes
Battaglia, Domenica I DI; Gambardella, Maria Luigia ML; Veltri, Stefania S; Contaldo, Ilaria I; Chillemi, Giovanni G; Veredice, Chiara C; Quintiliani, Michela M; Leoni, Chiara C; Onesimo, Roberta R; Verdolotti, Tommaso T; Radio, Francesca Clementina FC; Martinelli, Diego D; Trivisano, Marina M; Specchio, Nicola N; Dravet, Charlotte C; Tartaglia, Marco M; Zampino, Giuseppe G
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Bjog : An International Journal Of Obstetrics And Gynaecology
Mellis, R R; Eberhardt, R Y RY; Hamilton, S J SJ; , ; McMullan, D J DJ; Kilby, M D MD; Maher, E R ER; Hurles, M E ME; Giordano, J L JL; Aggarwal, V V; Goldstein, D B DB; Wapner, R J RJ; Chitty, L S LS
Publication Date: 2022-01
Variant appearance in text: BRAF: 770A>G; Gln257Arg
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Nature Communications
Gualtieri, Angelica A; Kyprianou, Nikolina N; Gregory, Louise C LC; Vignola, Maria Lillina ML; Nicholson, James G JG; Tan, Rachael R; Inoue, Shin-Ichi SI; Scagliotti, Valeria V; Casado, Pedro P; Blackburn, James J; Abollo-Jimenez, Fernando F; Marinelli, Eugenia E; Besser, Rachael E J REJ; Högler, Wolfgang W; Karen Temple, I I; Davies, Justin H JH; Gagunashvili, Andrey A; Robinson, Iain C A F ICAF; Camper, Sally A SA; Davis, Shannon W SW; Cutillas, Pedro R PR; Gevers, Evelien F EF; Aoki, Yoko Y; Dattani, Mehul T MT; Gaston-Massuet, Carles C
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: BRAF: 770A>G; Gln257Arg
High prevalence of clonal hematopoiesis-type genomic abnormalities in cell-free DNA in invasive gliomas after treatment.
International Journal Of Cancer
Okamura, Ryosuke R; Piccioni, David E DE; Boichard, Amélie A; Lee, Suzanna S; Jimenez, Rebecca E RE; Sicklick, Jason K JK; Kato, Shumei S; Kurzrock, Razelle R
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Orphanet Journal Of Rare Diseases
Leoni, Chiara C; Romeo, Domenico Marco DM; Pelliccioni, Michele M; Di Già, Mariangela M; Onesimo, Roberta R; Giorgio, Valentina V; Flex, Elisabetta E; Tedesco, Marta M; Tartaglia, Marco M; Rigante, Donato D; Valassina, Antonio A; Zampino, Giuseppe G
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nature Communications
Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE
Publication Date: 2020-10-01
Variant appearance in text: BRAF: 770A>G; Gln257Arg
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Design and Synthesis of Type-IV Inhibitors of BRAF Kinase That Block Dimerization and Overcome Paradoxical MEK/ERK Activation.
Journal Of Medicinal Chemistry
Beneker, Chad M CM; Rovoli, Magdalini M; Kontopidis, George G; Röring, Michael M; Galda, Simeon S; Braun, Sandra S; Brummer, Tilman T; McInnes, Campbell C
Analysis of cell-free circulating tumor DNA in 419 patients with glioblastoma and other primary brain tumors.
Cns Oncology
Piccioni, David E DE; Achrol, Achal Singh AS; Kiedrowski, Lesli A LA; Banks, Kimberly C KC; Boucher, Najee N; Barkhoudarian, Garni G; Kelly, Daniel F DF; Juarez, Tiffany T; Lanman, Richard B RB; Raymond, Victoria M VM; Nguyen, Minhdan M; Truong, Judy D JD; Heng, Annie A; Gill, Jaya J; Saria, Marlon M; Pingle, Sandeep C SC; Kesari, Santosh S