Publications:

---

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: 2542G>A; Gly848Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: G848R

PubMed Link: 34945792

Variant Present in the following documents:

• Main text
• jpm-11-01320.pdf

View BVdb publication page

---

Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: G848R

PubMed Link: 34945792

Variant Present in the following documents:

• Main text
• jpm-11-01320.pdf

View BVdb publication page

---

Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: NF1: 2542G>A; Gly848Arg

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

---

Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: NF1: 2542G>A; G848R

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 6

View BVdb publication page

---

Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: NF1: G848R

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: NF1: 2542G>A; G848R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma.

Neuro-Oncology

Brossier, Nicole M NM; Thondapu, Sharanya S; Cobb, Olivia M OM; Dahiya, Sonika S; Gutmann, David H DH

Publication Date: 2021-04-12

Variant appearance in text: NF1: Gly848Arg

PubMed Link: 33080011

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Brain tumors in Neurofibromatosis type 1.

Neuro-Oncology Advances

Costa, Amanda De Andrade AA; Gutmann, David H DH

Publication Date: 2019

Variant appearance in text: NF1: Gly848Arg

PubMed Link: 32642668

Variant Present in the following documents:

• Main text
• vdz040.pdf

View BVdb publication page

---

An update on the central nervous system manifestations of neurofibromatosis type 1.

Acta Neuropathologica

Nix, J Stephen JS; Blakeley, Jaishri J; Rodriguez, Fausto J FJ

Publication Date: 2020-04

Variant appearance in text: NF1: G848R

PubMed Link: 30963251

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1.

Journal Of Neuroscience Research

Freret, Morgan E ME; Gutmann, David H DH

Publication Date: 2019-01

Variant appearance in text: NF1: Gly848Arg

PubMed Link: 29704429

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

American Journal Of Human Genetics

Koczkowska, Magdalena M; Chen, Yunjia Y; Callens, Tom T; Gomes, Alicia A; Sharp, Angela A; Johnson, Sherrell S; Hsiao, Meng-Chang MC; Chen, Zhenbin Z; Balasubramanian, Meena M; Barnett, Christopher P CP; Becker, Troy A TA; Ben-Shachar, Shay S; Bertola, Debora R DR; Blakeley, Jaishri O JO; Burkitt-Wright, Emma M M EMM; Callaway, Alison A; Crenshaw, Melissa M; Cunha, Karin S KS; Cunningham, Mitch M; D'Agostino, Maria D MD; Dahan, Karin K; De Luca, Alessandro A; Destrée, Anne A; Dhamija, Radhika R; Eoli, Marica M; Evans, D Gareth R DGR; Galvin-Parton, Patricia P; George-Abraham, Jaya K JK; Gripp, Karen W KW; Guevara-Campos, Jose J; Hanchard, Neil A NA; Hernández-Chico, Concepcion C; Immken, LaDonna L; Janssens, Sandra S; Jones, Kristi J KJ; Keena, Beth A BA; Kochhar, Aaina A; Liebelt, Jan J; Martir-Negron, Arelis A; Mahoney, Maurice J MJ; Maystadt, Isabelle I; McDougall, Carey C; McEntagart, Meriel M; Mendelsohn, Nancy N; Miller, David T DT; Mortier, Geert G; Morton, Jenny J; Pappas, John J; Plotkin, Scott R SR; Pond, Dinel D; Rosenbaum, Kenneth K; Rubin, Karol K; Russell, Laura L; Rutledge, Lane S LS; Saletti, Veronica V; Schonberg, Rhonda R; Schreiber, Allison A; Seidel, Meredith M; Siqveland, Elizabeth E; Stockton, David W DW; Trevisson, Eva E; Ullrich, Nicole J NJ; Upadhyaya, Meena M; van Minkelen, Rick R; Verhelst, Helene H; Wallace, Margaret R MR; Yap, Yoon-Sim YS; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen K; Martin, Yolanda Y; Korf, Bruce R BR; Legius, Eric E; Messiaen, Ludwine M LM

Publication Date: 2018-01-04

Variant appearance in text: NF1: 2542G>A; Gly848Arg

PubMed Link: 29290338

Variant Present in the following documents:

• Main text
• mmc3.pdf
• mmc1.pdf
• mmc2.xlsx, sheet 1
• main.pdf

View BVdb publication page

---

Optic Pathway Gliomas in Neurofibromatosis Type 1.

Journal Of Child Neurology

Campen, Cynthia J CJ; Gutmann, David H DH

Publication Date: 2018-01

Variant appearance in text: NF1: G848R

PubMed Link: 29246098

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Disease Models & Mechanisms

Li, Kairong K; Turner, Ashley N AN; Chen, Min M; Brosius, Stephanie N SN; Schoeb, Trenton R TR; Messiaen, Ludwine M LM; Bedwell, David M DM; Zinn, Kurt R KR; Anastasaki, Corina C; Gutmann, David H DH; Korf, Bruce R BR; Kesterson, Robert A RA

Publication Date: 2016-07-01

Variant appearance in text: NF1: 2542G>A; Gly848Arg

PubMed Link: 27482814

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Contextual signaling in cancer.

Seminars In Cell & Developmental Biology

Smithson, Laura J LJ; Anastasaki, Corina C; Chen, Ran R; Toonen, Joseph A JA; Williams, Sidney B SB; Gutmann, David H DH

Publication Date: 2016-10

Variant appearance in text: N/A

PubMed Link: 27269372

Variant Present in the following documents:

View BVdb publication page

---

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: G848R

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

View BVdb publication page

---

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Journal Of Medical Genetics

Burkitt Wright, Emma Mm EM; Sach, Emma E; Sharif, Saba S; Quarrell, Oliver O; Carroll, Thomas T; Whitehouse, Richard W RW; Upadhyaya, Meena M; Huson, Susan M SM; Evans, D Gareth R DG

Publication Date: 2013-09

Variant appearance in text: NF1: Gly848Arg

PubMed Link: 23812910

Variant Present in the following documents:

• Main text
• jmedgenet-2013-101648.pdf

View BVdb publication page

---

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

Annals Of Neurology

Listernick, Robert R; Ferner, Rosalie E RE; Liu, Grant T GT; Gutmann, David H DH

Publication Date: 2007-03

Variant appearance in text: N/A

PubMed Link: 17387725

Variant Present in the following documents:

View BVdb publication page

---