Publications:

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The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: EGFR: Arg98*

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

View BVdb publication page

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Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Frontiers In Oncology

Liu, Tao T; Yao, Qianqian Q; Jin, Hai H

Publication Date: 2021

Variant appearance in text: EGFR: R98*

PubMed Link: 34094900

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 6

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: EGFR: R98X

PubMed Link: 30257206

Variant Present in the following documents:

• NIHMS1508956-supplement-3.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: EGFR: 292C>T

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Human Genome Variation

Hayashi, Shion S; Yokoi, Takayuki T; Hatano, Chihiro C; Enomoto, Yumi Y; Tsurusaki, Yoshinori Y; Naruto, Takuya T; Kobayashi, Masahisa M; Ida, Hiroyuki H; Kurosawa, Kenji K

Publication Date: 2018

Variant appearance in text: EGFR: 292C>T; R98X

PubMed Link: 29899996

Variant Present in the following documents:

• Main text
• 41439_2018_Article_11.pdf

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: EGFR: 292C>T; R98*

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: EGFR: R98X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 7

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: ERBB: 292C>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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