Publications:

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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

American Journal Of Medical Genetics. Part A

Musante, Luciana L; Faletra, Flavio F; Meier, Kolja K; Tomoum, Hoda H; Najarzadeh Torbati, Paria P; Blair, Edward E; North, Sally S; Gärtner, Jutta J; Diegmann, Susann S; Beiraghi Toosi, Mehran M; Ashrafzadeh, Farah F; Ghayoor Karimiani, Ehsan E; Murphy, David D; Murru, Flora Maria FM; Zanus, Caterina C; Magnolato, Andrea A; La Bianca, Martina M; Feresin, Agnese A; Girotto, Giorgia G; Gasparini, Paolo P; Costa, Paola P; Carrozzi, Marco M

Publication Date: 2022-09

Variant appearance in text: CREBBP: 5170G>A; Glu1724Lys

PubMed Link: 35670379

Variant Present in the following documents:

• AJMG-188-2652-s001.xlsx, sheet 3

View BVdb publication page

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Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Children (Basel, Switzerland)

Sima, Aurora A; Smădeanu, Roxana Elena RE; Simionescu, Anca Angela AA; Nedelea, Florina F; Vlad, Andreea-Maria AM; Becheanu, Cristina C

Publication Date: 2022-05-22

Variant appearance in text: CREBBP: 5170G>A; Glu1724Lys

PubMed Link: 35626936

Variant Present in the following documents:

• children-09-00759.pdf

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: CREBBP: E1724K

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CREBBP: 5170G>A; E1724K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: CREBBP: E1724K

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: CREBBP: E1724K

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 4

View BVdb publication page

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