Publications:

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: p53: R280C

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

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Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

Frontiers In Pediatrics

Sharma, Deepak D; Kumar, Chetan C; Bhalerao, Sanjay S; Pandita, Aakash A; Shastri, Sweta S; Sharma, Pradeep P

Publication Date: 2015

Variant appearance in text: p53: R280C

PubMed Link: 26137453

Variant Present in the following documents:

• Main text

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High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Genome Biology

Tan, Iain Beehuat IB; Malik, Simeen S; Ramnarayanan, Kalpana K; McPherson, John R JR; Ho, Dan Liang DL; Suzuki, Yuka Y; Ng, Sarah Boonhsui SB; Yan, Su S; Lim, Kiat Hon KH; Koh, Dennis D; Hoe, Chew Min CM; Chan, Chung Yip CY; Ten, Rachel R; Goh, Brian Kp BK; Chung, Alexander Yf AY; Tan, Joanna J; Chan, Cheryl Xueli CX; Tay, Su Ting ST; Alexander, Lezhava L; Nagarajan, Niranjan N; Hillmer, Axel M AM; Tang, Choon Leong CL; Chua, Clarinda C; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P

Publication Date: 2015-02-12

Variant appearance in text: TP53: R280C

PubMed Link: 25808843

Variant Present in the following documents:

• 13059_2015_589_MOESM4_ESM.pdf

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Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.

Bmj Case Reports

Patel, Ankur A; Sharma, Deepak D; Yadav, Jaivinder J; Garg, Eva E

Publication Date: 2014-06-27

Variant appearance in text: p53: R280C

PubMed Link: 24973351

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: TP53: R280C

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome.

American Journal Of Medical Genetics. Part A

Vernersson Lindahl, Emma E; Garcia, Elvin L EL; Mills, Alea A AA

Publication Date: 2013-08

Variant appearance in text: TP53: Arg280Cys

PubMed Link: 23775923

Variant Present in the following documents:

• Main text

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Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Terrinoni, Alessandro A; Serra, Valeria V; Bruno, Ernesto E; Strasser, Andreas A; Valente, Elizabeth E; Flores, Elsa R ER; van Bokhoven, Hans H; Lu, Xin X; Knight, Richard A RA; Melino, Gerry G

Publication Date: 2013-04-30

Variant appearance in text: p53: R280C

PubMed Link: 23589895

Variant Present in the following documents:

• Main text

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Few single nucleotide variations in exomes of human cord blood induced pluripotent stem cells.

Plos One

Su, Rui-Jun RJ; Yang, Yadong Y; Neises, Amanda A; Payne, Kimberly J KJ; Wang, Jasmin J; Viswanathan, Kasthuribai K; Wakeland, Edward K EK; Fang, Xiangdong X; Zhang, Xiao-Bing XB

Publication Date: 2013

Variant appearance in text: p53: R280C

PubMed Link: 23573220

Variant Present in the following documents:

• Main text
• pone.0059908.pdf

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Differential effects of p63 mutants on transactivation of p53 and/or p63 responsive genes.

Cell Research

Khokhar, Shama K SK; Kommagani, Ramakrishna R; Kadakia, Madhavi P MP

Publication Date: 2008-10

Variant appearance in text: p53: R280C

PubMed Link: 18626511

Variant Present in the following documents:

• Main text

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Dlx genes, p63, and ectodermal dysplasias.

Birth Defects Research. Part C, Embryo Today : Reviews

Morasso, Maria I MI; Radoja, Nadezda N

Publication Date: 2005-09

Variant appearance in text: p53: R280C

PubMed Link: 16187309

Variant Present in the following documents:

• Main text

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Splitting p63.

American Journal Of Human Genetics

van Bokhoven, Hans H; Brunner, Han G HG

Publication Date: 2002-07

Variant appearance in text: p53: R280C

PubMed Link: 12037717

Variant Present in the following documents:

• Main text

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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

American Journal Of Human Genetics

van Bokhoven, H H; Hamel, B C BC; Bamshad, M M; Sangiorgi, E E; Gurrieri, F F; Duijf, P H PH; Vanmolkot, K R KR; van Beusekom, E E; van Beersum, S E SE; Celli, J J; Merkx, G F GF; Tenconi, R R; Fryns, J P JP; Verloes, A A; Newbury-Ecob, R A RA; Raas-Rotschild, A A; Majewski, F F; Beemer, F A FA; Janecke, A A; Chitayat, D D; Crisponi, G G; Kayserili, H H; Yates, J R JR; Neri, G G; Brunner, H G HG

Publication Date: 2001-09

Variant appearance in text: p53: R280C

PubMed Link: 11462173

Variant Present in the following documents:

• Main text

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Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

American Journal Of Human Genetics

Ianakiev, P P; Kilpatrick, M W MW; Toudjarska, I I; Basel, D D; Beighton, P P; Tsipouras, P P

Publication Date: 2000-07

Variant appearance in text: TP53: R280C

PubMed Link: 10839977

Variant Present in the following documents:

• Main text

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