Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NF1: 1278G>A; Trp426Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: W426*

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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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: 1278G>A; Trp426*

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: 2021-11-30

Variant appearance in text: NF1: 1278G>A; Trp426*

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

View BVdb publication page

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-12

Variant appearance in text: NF1: 1278G>A; Trp426*; rs1131691085

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

View BVdb publication page

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Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS

Publication Date: 2021-06-03

Variant appearance in text: NF1: 1278G>A; Trp426*; rs1131691085

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

View BVdb publication page

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A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood Cancer Journal

Gasparini, Vanessa Rebecca VR; Binatti, Andrea A; Coppe, Alessandro A; Teramo, Antonella A; Vicenzetto, Cristina C; Calabretto, Giulia G; Barilà, Gregorio G; Barizza, Annica A; Giussani, Edoardo E; Facco, Monica M; Mustjoki, Satu S; Semenzato, Gianpietro G; Zambello, Renato R; Bortoluzzi, Stefania S

Publication Date: 2020-04-22

Variant appearance in text: NF1: Trp426*

PubMed Link: 32321919

Variant Present in the following documents:

• 41408_2020_309_MOESM4_ESM.pdf

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: NF1: 1278G>A; W426*

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

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: 1278G>A; Trp426X

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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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: Trp426X

PubMed Link: 22155606

Variant Present in the following documents:

• 1479-7364-5-6-623.pdf

View BVdb publication page

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