Publications:

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Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta Neuropathologica

Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA

Publication Date: 2022-10

Variant appearance in text: NF1: 245C>T; S82F; rs199474729

PubMed Link: 35945463

Variant Present in the following documents:

• 401_2022_2478_MOESM1_ESM.xlsx, sheet 11
• 401_2022_2478_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: NF1: 245C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.

Jco Precision Oncology

Tong, Schuyler S; Devine, W Patrick WP; Shieh, Joseph T JT

Publication Date: 2022-05

Variant appearance in text: NF1: S82F

PubMed Link: 35584348

Variant Present in the following documents:

• Main text
• po-6-e2100540.pdf

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: NF1: 245C>T; Ser82Phe

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2021-11-30

Variant appearance in text: NF1: 245C>T; Ser82Phe

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

View BVdb publication page

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2022-02

Variant appearance in text: NF1: 245C>T; Ser82Phe

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

View BVdb publication page

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Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Annals Of Medicine

Pipitprapat, Weenita W; Pattanaprateep, Oraluck O; Iemwimangsa, Nareenart N; Sensorn, Insee I; Panthan, Bhakbhoom B; Jiaranai, Poramate P; Chantratita, Wasun W; Sorapipatcharoen, Kinnaree K; Poomthavorn, Preamrudee P; Mahachoklertwattana, Pat P; Sura, Thanyachai T; Tunteeratum, Atchara A; Srichan, Kanoknan K; Sriphrapradang, Chutintorn C

Publication Date: 2021-12

Variant appearance in text: NF1: 245C>T

PubMed Link: 34309460

Variant Present in the following documents:

• IANN_53_1956687.pdf

View BVdb publication page

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Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine

Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL

Publication Date: 2020-10

Variant appearance in text: NF1: 245C>T; S82F

PubMed Link: 32927274

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: NF1: Ser82Phe

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: NF1: 245C>T; Ser82Phe

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs199474729

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports

de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R

Publication Date: 2017-03-29

Variant appearance in text: NF1: 245C>T; Ser82Phe

PubMed Link: 28356599

Variant Present in the following documents:

• 41598_2017_606_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NF1: S82F; rs199474729

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NF1: S82F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: NF1: S82F

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

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