Publications:

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Frontiers In Neurology

Niu, Yue Y; Gong, Pan P; Jiao, Xianru X; Xu, Zhao Z; Zhang, Yuehua Y; Yang, Zhixian Z

Publication Date: 2022

Variant appearance in text: KCTD7: 458G>A; Arg153His

PubMed Link: 36034301

Variant Present in the following documents:

• Main text
• fneur-13-907228.pdf

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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: R153H

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

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Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.

Clinical And Translational Medicine

Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L

Publication Date: 2021-12

Variant appearance in text: KCTD7: R153H

PubMed Link: 34923768

Variant Present in the following documents:

• CTM2-11-e620-s006.xlsx, sheet 2

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCTD7: 458G>A; Arg153His

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: KCTD7: R153H

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

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