Publications:

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Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Frontiers In Endocrinology

Eng, Zing Hong ZH; Abdullah, Mardiaty Iryani MI; Ng, Khoon Leong KL; Abdul Aziz, Azlina A; Arba'ie, Nurul Hannis NH; Mat Rashid, Nurullainy N; Mat Junit, Sarni S

Publication Date: 2022

Variant appearance in text: CREBBP: 1537C>A; Leu513Ile

PubMed Link: 36686473

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.

Cancers

Taghizadeh, Hossein H; Mader, Robert M RM; Müllauer, Leonhard L; Fuereder, Thorsten T; Kautzky-Willer, Alexandra A; Prager, Gerald W GW

Publication Date: 2020-11-15

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 33203166

Variant Present in the following documents:

• Main text
• cancers-12-03381.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1

View BVdb publication page

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NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Human Mutation

Knarston, Ingrid M IM; Robevska, Gorjana G; van den Bergen, Jocelyn A JA; Eggers, Stefanie S; Croft, Brittany B; Yates, Jason J; Hersmus, Remko R; Looijenga, Leendert H J LHJ; Cameron, Fergus J FJ; Monhike, Klaus K; Ayers, Katie L KL; Sinclair, Andrew H AH

Publication Date: 2019-02

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 30350900

Variant Present in the following documents:

• HUMU-40-207-s001.pdf

View BVdb publication page

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A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

American Journal Of Ophthalmology Case Reports

Bardakjian, Tanya T; Krall, Max M; Wu, Di D; Lao, Richard R; Tang, Paul Ling-Fung PL; Wan, Eunice E; Kopinsky, Sarina S; Schneider, Adele A; Kwok, Pui-Yan PY; Slavotinek, Anne A

Publication Date: 2017-09

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 29260090

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: CREBBP: 1537C>A

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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