Publications:

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An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Frontiers In Molecular Neuroscience

Price, Emma E; Fedida, Liron M LM; Pugacheva, Elena M EM; Ji, Yon J YJ; Loukinov, Dmitri D; Lobanenkov, Victor V VV

Publication Date: 2023

Variant appearance in text: CTCF: Arg415Gln

PubMed Link: 37324587

Variant Present in the following documents:

• Main text
• fnmol-16-1185796.pdf

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: CTCF: 1244G>A; R415Q

PubMed Link: 36117989

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1
• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: CTCF: 1244G>A; R415Q

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: CTCF: 1244G>A; R415Q

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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[Autosomal dominant intellectual disability type 21 in a neonate].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Chen, Lan L; He, Wen W; Liu, Ling L

Publication Date: 2021-03

Variant appearance in text: CTCF: 1244G>A; R415Q

PubMed Link: 33691927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chemical Decorations of "MARs" Residents in Orchestrating Eukaryotic Gene Regulation.

Frontiers In Cell And Developmental Biology

Roychowdhury, Tanaya T; Chattopadhyay, Samit S

Publication Date: 2020

Variant appearance in text: CTCF: Arg415Gln

PubMed Link: 33409278

Variant Present in the following documents:

• Main text
• fcell-08-602994.pdf

View BVdb publication page

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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: CTCF: 1244G>A; Arg415Gln

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM13_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM14_ESM.xlsx, sheet 1
• 41467_2020_Article_18723.pdf
• 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Cell Reports

Wang, Sheng S; Mandell, Jeffrey D JD; Kumar, Yogesh Y; Sun, Nawei N; Morris, Montana T MT; Arbelaez, Juan J; Nasello, Cara C; Dong, Shan S; Duhn, Clif C; Zhao, Xin X; Yang, Zhiyu Z; Padmanabhuni, Shanmukha S SS; Yu, Dongmei D; King, Robert A RA; Dietrich, Andrea A; Khalifa, Najah N; Dahl, Niklas N; Huang, Alden Y AY; Neale, Benjamin M BM; Coppola, Giovanni G; Mathews, Carol A CA; Scharf, Jeremiah M JM; , ; , ; , ; Fernandez, Thomas V TV; Buxbaum, Joseph D JD; De Rubeis, Silvia S; Grice, Dorothy E DE; Xing, Jinchuan J; Heiman, Gary A GA; Tischfield, Jay A JA; Paschou, Peristera P; Willsey, A Jeremy AJ; State, Matthew W MW

Publication Date: 2018-09-25

Variant appearance in text: CTCF: R415Q

PubMed Link: 30257206

Variant Present in the following documents:

• NIHMS1508956-supplement-3.xlsx, sheet 1

View BVdb publication page

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