Publications:

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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: NOTCH1: 2086G>A; G696S

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: NOTCH1: 2086G>A; G696S

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Jiachen J; Shen, Kefeng K; Mu, Wei W; Li, Weigang W; Zhang, Meilan M; Zhang, Wei W; Li, Zhe Z; Ge, Tong T; Zhu, Zhoujie Z; Zhang, Shangkun S; Chen, Caixia C; Xing, Shugang S; Zhu, Li L; Chen, Liting L; Wang, Na N; Huang, Liang L; Li, Dengju D; Xiao, Min M; Zhou, Jianfeng J

Publication Date: 2022

Variant appearance in text: NOTCH1: 2086G>A; Gly696Ser

PubMed Link: 35572515

Variant Present in the following documents:

• Table_2.xlsx, sheet 6

View BVdb publication page

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Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.

Brain : A Journal Of Neurology

Mishra, Aniket A; Duplaà, Cécile C; Vojinovic, Dina D; Suzuki, Hideaki H; Sargurupremraj, Muralidharan M; Zilhão, Nuno R NR; Li, Shuo S; Bartz, Traci M TM; Jian, Xueqiu X; Zhao, Wei W; Hofer, Edith E; Wittfeld, Katharina K; Harris, Sarah E SE; van der Auwera-Palitschka, Sandra S; Luciano, Michelle M; Bis, Joshua C JC; Adams, Hieab H H HHH; Satizabal, Claudia L CL; Gottesman, Rebecca F RF; Gampawar, Piyush G PG; Bülow, Robin R; Weiss, Stefan S; Yu, Miao M; Bastin, Mark E ME; Lopez, Oscar L OL; Vernooij, Meike W MW; Beiser, Alexa S AS; Völker, Uwe U; Kacprowski, Tim T; Soumare, Aicha A; Smith, Jennifer A JA; Knopman, David S DS; Morris, Zoe Z; Zhu, Yicheng Y; Rotter, Jerome I JI; Dufouil, Carole C; Valdés Hernández, Maria M; Muñoz Maniega, Susana S; Lathrop, Mark M; Boerwinkle, Erik E; Schmidt, Reinhold R; Ihara, Masafumi M; Mazoyer, Bernard B; Yang, Qiong Q; Joutel, Anne A; Tournier-Lasserve, Elizabeth E; Launer, Lenore J LJ; Deary, Ian J IJ; Mosley, Thomas H TH; Amouyel, Philippe P; DeCarli, Charles S CS; Psaty, Bruce M BM; Tzourio, Christophe C; Kardia, Sharon L R SLR; Grabe, Hans J HJ; Teumer, Alexander A; van Duijn, Cornelia M CM; Schmidt, Helena H; Wardlaw, Joanna M JM; Ikram, M Arfan MA; Fornage, Myriam M; Gudnason, Vilmundur V; Seshadri, Sudha S; Matthews, Paul M PM; Longstreth, William T WT; Couffinhal, Thierry T; Debette, Stephanie S

Publication Date: 2022-06-30

Variant appearance in text: NOTCH1: 2086G>A; Gly696Ser

PubMed Link: 35511193

Variant Present in the following documents:

• awab432_supplementary_data.pdf

View BVdb publication page

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: NOTCH1: G696S

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

View BVdb publication page

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Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Scientific Reports

Maurya, Nehakumari N; Mohanty, Purvi P; Dhangar, Somprakash S; Panchal, Purvi P; Jijina, Farah F; Mathan, S Leo Prince SLP; Shanmukhaiah, Chandrakala C; Madkaikar, Manisha M; Vundinti, Babu Rao BR

Publication Date: 2022-04-08

Variant appearance in text: NOTCH1: 2086G>A; Gly696Ser

PubMed Link: 35396491

Variant Present in the following documents:

• 41598_2022_9864_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Nature Communications

Johansson, Peter A PA; Brooks, Kelly K; Newell, Felicity F; Palmer, Jane M JM; Wilmott, James S JS; Pritchard, Antonia L AL; Broit, Natasa N; Wood, Scott S; Carlino, Matteo S MS; Leonard, Conrad C; Koufariotis, Lambros T LT; Nathan, Vaishnavi V; Beasley, Aaron B AB; Howlie, Madeleine M; Dawson, Rebecca R; Rizos, Helen H; Schmidt, Chris W CW; Long, Georgina V GV; Hamilton, Hayley H; Kiilgaard, Jens F JF; Isaacs, Timothy T; Gray, Elin S ES; Rolfe, Olivia J OJ; Park, John J JJ; Stark, Andrew A; Mann, Graham J GJ; Scolyer, Richard A RA; Pearson, John V JV; van Baren, Nicolas N; Waddell, Nicola N; Wadt, Karin W KW; McGrath, Lindsay A LA; Warrier, Sunil K SK; Glasson, William W; Hayward, Nicholas K NK

Publication Date: 2020-05-15

Variant appearance in text: NOTCH1: 2086G>A

PubMed Link: 32415113

Variant Present in the following documents:

• 41467_2020_16276_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine

Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J

Publication Date: 2019-09

Variant appearance in text: NOTCH1: G696S

PubMed Link: 31369215

Variant Present in the following documents:

• CAM4-8-5673-s008.xlsx, sheet 5
• CAM4-8-5673-s008.xlsx, sheet 8

View BVdb publication page

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