Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: CEP164: 4228C>T; Gln1410Ter
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clinical Genetics
Devlin, Laura A LA; Coles, Janice J; Jackson, Claire L CL; Barroso-Gil, Miguel M; Green, Ben B; Walker, Woolf T WT; Thomas, N Simon NS; Thompson, James J; Rock, Simon A SA; Neatu, Ruxandra R; Powell, Laura L; Molinari, Elisa E; , ; Wilson, Ian J IJ; Cordell, Heather J HJ; Olinger, Eric E; Miles, Colin G CG; Sayer, John A JA; Wheway, Gabrielle G; Lucas, Jane S JS
Publication Date: 2022-10-23
Variant appearance in text: CEP164: 4228C>T; Q1410*
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Bmc Medical Genomics
Wheway, Gabrielle G; Thomas, N Simon NS; Carroll, Mary M; Coles, Janice J; Doherty, Regan R; , ; Goggin, Patricia P; Green, Ben B; Harris, Amanda A; Hunt, David D; Jackson, Claire L CL; Lord, Jenny J; Mennella, Vito V; Thompson, James J; Walker, Woolf T WT; Lucas, Jane S JS
Publication Date: 2021-09-23
Variant appearance in text: CEP164: 4228C>T; Q1410X
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
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: CEP164: 4228C>T; Gln1410Ter
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2020-04
Variant appearance in text: CEP164: 4228C>T; Gln1410Ter
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: CEP164: Q1410X; rs147398904
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.
Cancer Letters
Smith, Alyssa L AL; Alirezaie, Najmeh N; Connor, Ashton A; Chan-Seng-Yue, Michelle M; Grant, Robert R; Selander, Iris I; Bascuñana, Claire C; Borgida, Ayelet A; Hall, Anita A; Whelan, Thomas T; Holter, Spring S; McPherson, Treasa T; Cleary, Sean S; Petersen, Gloria M GM; Omeroglu, Atilla A; Saloustros, Emmanouil E; McPherson, John J; Stein, Lincoln D LD; Foulkes, William D WD; Majewski, Jacek J; Gallinger, Steven S; Zogopoulos, George G
Publication Date: 2016-01-28
Variant appearance in text: CEP164: 4228C>T; Gln1410*
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
Chaki, Moumita M; Airik, Rannar R; Ghosh, Amiya K AK; Giles, Rachel H RH; Chen, Rui R; Slaats, Gisela G GG; Wang, Hui H; Hurd, Toby W TW; Zhou, Weibin W; Cluckey, Andrew A; Gee, Heon Yung HY; Ramaswami, Gokul G; Hong, Chen-Jei CJ; Hamilton, Bruce A BA; Cervenka, Igor I; Ganji, Ranjani Sri RS; Bryja, Vitezslav V; Arts, Heleen H HH; van Reeuwijk, Jeroen J; Oud, Machteld M MM; Letteboer, Stef J F SJ; Roepman, Ronald R; Husson, Hervé H; Ibraghimov-Beskrovnaya, Oxana O; Yasunaga, Takayuki T; Walz, Gerd G; Eley, Lorraine L; Sayer, John A JA; Schermer, Bernhard B; Liebau, Max C MC; Benzing, Thomas T; Le Corre, Stephanie S; Drummond, Iain I; Janssen, Sabine S; Allen, Susan J SJ; Natarajan, Sivakumar S; O'Toole, John F JF; Attanasio, Massimo M; Saunier, Sophie S; Antignac, Corinne C; Koenekoop, Robert K RK; Ren, Huanan H; Lopez, Irma I; Nayir, Ahmet A; Stoetzel, Corinne C; Dollfus, Helene H; Massoudi, Rustin R; Gleeson, Joseph G JG; Andreoli, Sharon P SP; Doherty, Dan G DG; Lindstrad, Anna A; Golzio, Christelle C; Katsanis, Nicholas N; Pape, Lars L; Abboud, Emad B EB; Al-Rajhi, Ali A AA; Lewis, Richard A RA; Omran, Heymut H; Lee, Eva Y-H P EY; Wang, Shaohui S; Sekiguchi, Joann M JM; Saunders, Rudel R; Johnson, Colin A CA; Garner, Elizabeth E; Vanselow, Katja K; Andersen, Jens S JS; Shlomai, Joseph J; Nurnberg, Gudrun G; Nurnberg, Peter P; Levy, Shawn S; Smogorzewska, Agata A; Otto, Edgar A EA; Hildebrandt, Friedhelm F