Publications:

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: NF1: S1150*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: NF1: S1150X

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Frontiers In Oncology

Li, Hainan H; Shan, Changguo C; Wu, Shengnan S; Cheng, Baijie B; Fan, Chongzu C; Cai, Linbo L; Chen, Yedan Y; Shi, Yuqian Y; Liu, Kaihua K; Shao, Yang Y; Zhu, Dan D; Li, Zhi Z

Publication Date: 2020

Variant appearance in text: NF1: S1150*

PubMed Link: 33747896

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: NF1: S1150*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Systematic reconstruction of autism biology from massive genetic mutation profiles.

Science Advances

Luo, Weijun W; Zhang, Chaolin C; Jiang, Yong-Hui YH; Brouwer, Cory R CR

Publication Date: 2018-04

Variant appearance in text: NF1: S1150*

PubMed Link: 29651456

Variant Present in the following documents:

• 1701799_TableS5.xlsx, sheet 2

View BVdb publication page

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Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics

Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH

Publication Date: 2017-10

Variant appearance in text: NF1: 3449C>A; Ser1150X

PubMed Link: 28955729

Variant Present in the following documents:

• supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: NF1: S1150*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

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Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: NF1: S1150X

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, sheet 1

View BVdb publication page

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