Publications:

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

The Journal Of Clinical Investigation

Le, Thuy-Linh TL; Galmiche, Louise L; Levy, Jonathan J; Suwannarat, Pim P; Hellebrekers, Debby Mei DM; Morarach, Khomgrit K; Boismoreau, Franck F; Theunissen, Tom Ej TE; Lefebvre, Mathilde M; Pelet, Anna A; Martinovic, Jelena J; Gelot, Antoinette A; Guimiot, Fabien F; Calleroz, Amanda A; Gitiaux, Cyril C; Hully, Marie M; Goulet, Olivier O; Chardot, Christophe C; Drunat, Severine S; Capri, Yline Y; Bole-Feysot, Christine C; Nitschké, Patrick P; Whalen, Sandra S; Mouthon, Linda L; Babcock, Holly E HE; Hofstra, Robert R; de Coo, Irenaeus Fm IF; Tabet, Anne-Claude AC; Molina, Thierry J TJ; Keren, Boris B; Brooks, Alice A; Smeets, Hubert Jm HJ; Marklund, Ulrika U; Gordon, Christopher T CT; Lyonnet, Stanislas S; Amiel, Jeanne J; Bondurand, Nadège N

Publication Date: 2021-03-15

Variant appearance in text: ERBB: 2129C>T

PubMed Link: 33497358

Variant Present in the following documents:

• Main text

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: EGFR: T710I

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: EGFR: T710I

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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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: 2129C>T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Driver oncogenes in Sub-Saharan African patients with non-small cell lung cancer.

Lung Cancer (Auckland, N.Z.)

Legius, Barbara B; Van Den Broecke, Sandra S; Muylle, Inge I; Ninane, Vincent V

Publication Date: 2016

Variant appearance in text: EGFR: T710I

PubMed Link: 28210171

Variant Present in the following documents:

• Main text
• lctt-7-149.pdf

View BVdb publication page