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: CFTR: 1251C>A; Asn417Lys
Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.
Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
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
Publication Date: 2022-09
Variant appearance in text: CFTR: 1209+6574C>A; N417K
Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.
Nature Communications
Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: CFTR: N417K; rs4727853
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.
Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02
Variant appearance in text: CFTR: 1251C>A; Asn417Lys; rs4727853
Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: CFTR: 1251C>A; rs4727853
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: CFTR: N417K; rs4727853
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: CFTR: 1251C>A; N417K; rs4727853
Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS
Publication Date: 2017
Variant appearance in text: CFTR: N417K; rs4727853
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Human Genome Variation
Vecchio-Pagán, Briana B; Blackman, Scott M SM; Lee, Melissa M; Atalar, Melis M; Pellicore, Matthew J MJ; Pace, Rhonda G RG; Franca, Arianna L AL; Raraigh, Karen S KS; Sharma, Neeraj N; Knowles, Michael R MR; Cutting, Garry R GR
Publication Date: 2016
Variant appearance in text: CFTR: N417K; rs4727853
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: CFTR: N417K; rs4727853
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: CFTR: N417K; rs4727853
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09
Variant appearance in text: CFTR: 1251C>A; N417K; rs4727853