Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: PCM1: I613S; rs181777656

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PCM1: 1838T>G; I613S; rs181777656

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PCM1: 1838T>G; I613S; rs181777656

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Multi-site tumor sampling highlights molecular intra-tumor heterogeneity in malignant pleural mesothelioma.

Genome Medicine

Meiller, Clément C; Montagne, François F; Hirsch, Theo Z TZ; Caruso, Stefano S; de Wolf, Julien J; Bayard, Quentin Q; Assié, Jean-Baptiste JB; Meunier, Léa L; Blum, Yuna Y; Quetel, Lisa L; Gibault, Laure L; Pintilie, Ecaterina E; Badoual, Cécile C; Humez, Sarah S; Galateau-Sallé, Françoise F; Copin, Marie-Christine MC; Letouzé, Eric E; Scherpereel, Arnaud A; Zucman-Rossi, Jessica J; Le Pimpec-Barthes, Françoise F; Jaurand, Marie-Claude MC; Jean, Didier D

Publication Date: 2021-07-14

Variant appearance in text: PCM1: 1838T>G; Ile613Ser

PubMed Link: 34261524

Variant Present in the following documents:

• 13073_2021_931_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: PCM1: I613S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Frontiers In Genetics

Torrezan, Giovana T GT; de Almeida, Fernanda G Dos Santos R FGDSR; Figueiredo, Márcia C P MCP; Barros, Bruna D de Figueiredo BDF; de Paula, Cláudia A A CAA; Valieris, Renan R; de Souza, Jorge E S JES; Ramalho, Rodrigo F RF; da Silva, Felipe C C FCC; Ferreira, Elisa N EN; de Nóbrega, Amanda F AF; Felicio, Paula S PS; Achatz, Maria I MI; de Souza, Sandro J SJ; Palmero, Edenir I EI; Carraro, Dirce M DM

Publication Date: 2018

Variant appearance in text: rs181777656

PubMed Link: 29868112

Variant Present in the following documents:

• Main text
• fgene-09-00161.pdf

View BVdb publication page

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A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific Reports

Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ

Publication Date: 2017-05-26

Variant appearance in text: PCM1: 1838T>G; Ile613Ser; rs181777656

PubMed Link: 28550306

Variant Present in the following documents:

• 41598_2017_2655_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PCM1: I613S; rs181777656

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: PCM1: I613S; rs181777656

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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