Publications:

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Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.

Scientific Reports

Spolia, Akshi A; Angural, Arshia A; Sharma, Varun V; Shipra, ; Razdan, Sushil S; Dhar, Manoj K MK; Mahajan, Ankit A; Verma, Vijeshwar V; Pandita, Kamal K KK; Sharma, Swarkar S; Rai, Ekta E

Publication Date: 2023-05-15

Variant appearance in text: NF1: 2041C>T; Arg681Ter

PubMed Link: 37188759

Variant Present in the following documents:

• Main text
• 41598_2023_Article_34941.pdf

View BVdb publication page

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: NF1: 2041C>T; Arg681*; rs768638173

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: NF1: R681X

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: NF1: 2041C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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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: 2041C>T; Arg681Ter

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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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers

Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M

Publication Date: 2022-12-22

Variant appearance in text: NF1: 2041C>T; Arg681*

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

View BVdb publication page

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The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer

Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A

Publication Date: 2022-12-30

Variant appearance in text: NF1: 2041C>T; R681*

PubMed Link: 36585449

Variant Present in the following documents:

• 43018_2022_474_MOESM2_ESM.xlsx, sheet 7
• 43018_2022_474_MOESM3_ESM.xlsx, sheet 7
• 43018_2022_474_MOESM10_ESM.xlsx, sheet 7
• 43018_2022_474_MOESM12_ESM.xlsx, sheet 7
• 43018_2022_474_MOESM7_ESM.xlsx, sheet 7

View BVdb publication page

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Human induced pluripotent stem cell engineering establishes a humanized mouse platform for pediatric low-grade glioma modeling.

Acta Neuropathologica Communications

Anastasaki, Corina C; Chatterjee, Jit J; Cobb, Olivia O; Sanapala, Shilpa S; Scheaffer, Suzanne M SM; De Andrade Costa, Amanda A; Wilson, Anna F AF; Kernan, Chloe M CM; Zafar, Ameera H AH; Ge, Xia X; Garbow, Joel R JR; Rodriguez, Fausto J FJ; Gutmann, David H DH

Publication Date: 2022-08-19

Variant appearance in text: NF1: 2041C>T

PubMed Link: 35986378

Variant Present in the following documents:

• 40478_2022_Article_1428.pdf

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: R681*

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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Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine

Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z

Publication Date: 2022-11

Variant appearance in text: NF1: 2041C>T; R681*

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: NF1: R681*

PubMed Link: 35547262

Variant Present in the following documents:

• Main text
• DataSheet1.xlsx, sheet 2
• fgene-13-864499.pdf

View BVdb publication page

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: NF1: 2041C>T; Arg681Ter

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Immune deconvolution and temporal mapping identifies stromal targets and developmental intervals for abrogating murine low-grade optic glioma formation.

Neuro-Oncology Advances

de Andrade Costa, Amanda A; Chatterjee, Jit J; Cobb, Olivia O; Cordell, Elizabeth E; Chao, Astoria A; Schaeffer, Suzanne S; Goldstein, Andrea A; Dahiya, Sonika S; Gutmann, David H DH

Publication Date: 2022

Variant appearance in text: NF1: R681X

PubMed Link: 35187488

Variant Present in the following documents:

• Main text
• vdab194.pdf

View BVdb publication page

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Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment

Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2022-10

Variant appearance in text: NF1: 2041C>T; Arg681Ter; rs768638173

PubMed Link: 34793666

Variant Present in the following documents:

• crt-2021-978_S2_Table.pdf

View BVdb publication page

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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.

Frontiers In Neurology

Wang, Wei W; Wei, Cheng-Jiang CJ; Cui, Xi-Wei XW; Li, Yue-Hua YH; Gu, Yi-Hui YH; Gu, Bin B; Li, Qing-Feng QF; Wang, Zhi-Chao ZC

Publication Date: 2021

Variant appearance in text: NF1: 2041C>T; R681X

PubMed Link: 34566848

Variant Present in the following documents:

• Main text
• fneur-12-704639.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: 2041C>T; Arg681*; rs768638173

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: 2021-12

Variant appearance in text: NF1: 2041C>T; Arg681*; rs768638173

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

View BVdb publication page

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: NF1: R681*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Cancers

Scala, Marcello M; Schiavetti, Irene I; Madia, Francesca F; Chelleri, Cristina C; Piccolo, Gianluca G; Accogli, Andrea A; Riva, Antonella A; Salpietro, Vincenzo V; Bocciardi, Renata R; Morcaldi, Guido G; Di Duca, Marco M; Caroli, Francesco F; Verrico, Antonio A; Milanaccio, Claudia C; Viglizzo, Gianmaria G; Traverso, Monica M; Baldassari, Simona S; Scudieri, Paolo P; Iacomino, Michele M; Piatelli, Gianluca G; Minetti, Carlo C; Striano, Pasquale P; Garrè, Maria Luisa ML; De Marco, Patrizia P; Diana, Maria Cristina MC; Capra, Valeria V; Pavanello, Marco M; Zara, Federico F

Publication Date: 2021-04-14

Variant appearance in text: NF1: 2041C>T; R681*

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders.

Journal Of Neurodevelopmental Disorders

Rahn, Rachel M RM; Weichselbaum, Claire T CT; Gutmann, David H DH; Dougherty, Joseph D JD; Maloney, Susan E SE

Publication Date: 2021-03-20

Variant appearance in text: NF1: 2041C>T; R681X

PubMed Link: 33743598

Variant Present in the following documents:

• Main text
• 11689_2021_Article_9359.pdf

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: NF1: 2041C>T; Arg681Ter

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 3
• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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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: 2041C>T; R681*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: NF1: R681*

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications

Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y

Publication Date: 2020-11-04

Variant appearance in text: NF1: Arg681Ter

PubMed Link: 33149148

Variant Present in the following documents:

• 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10

View BVdb publication page

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Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins.

The Journal Of Clinical Investigation

Mo, Juan J; Anastasaki, Corina C; Chen, Zhiguo Z; Shipman, Tracey T; Papke, Jason J; Yin, Kevin K; Gutmann, David H DH; Le, Lu Q LQ

Publication Date: 2021-01-04

Variant appearance in text: NF1: 2041C>T

PubMed Link: 33108355

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg681X

PubMed Link: 33080011

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg681X

PubMed Link: 32642668

Variant Present in the following documents:

• Main text
• vdz040.pdf

View BVdb publication page

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Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine

He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH

Publication Date: 2020-01

Variant appearance in text: NF1: 2041C>T; Arg681*; rs768638173

PubMed Link: 32508039

Variant Present in the following documents:

• CTM2-10-353-s003.xlsx, sheet 3

View BVdb publication page

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Midkine activation of CD8+ T cells establishes a neuron-immune-cancer axis responsible for low-grade glioma growth.

Nature Communications

Guo, Xiaofan X; Pan, Yuan Y; Xiong, Min M; Sanapala, Shilpa S; Anastasaki, Corina C; Cobb, Olivia O; Dahiya, Sonika S; Gutmann, David H DH

Publication Date: 2020-05-01

Variant appearance in text: NF1: 2041C>T

PubMed Link: 32358581

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Stem Cell Reports

Anastasaki, Corina C; Wegscheid, Michelle L ML; Hartigan, Kelly K; Papke, Jason B JB; Kopp, Nathan D ND; Chen, Jiayang J; Cobb, Olivia O; Dougherty, Joseph D JD; Gutmann, David H DH

Publication Date: 2020-04-14

Variant appearance in text: NF1: 2041C>T

PubMed Link: 32243842

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Nature Communications

Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M

Publication Date: 2019-12-13

Variant appearance in text: NF1: R681*

PubMed Link: 31836708

Variant Present in the following documents:

• 41467_2019_13392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 2041C>T; Arg681*

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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: Arg681*

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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Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Bmc Medical Genetics

Chai, Peiwei P; Luo, Yingxiu Y; Zhou, Chuandi C; Wang, Yefei Y; Fan, Xianqun X; Jia, Renbing R

Publication Date: 2019-09-18

Variant appearance in text: NF1: R681X

PubMed Link: 31533651

Variant Present in the following documents:

• Main text
• 12881_2019_877_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners.

Genes

Carnes, Rachel M RM; Kesterson, Robert A RA; Korf, Bruce R BR; Mobley, James A JA; Wallis, Deeann D

Publication Date: 2019-08-28

Variant appearance in text: NF1: R681X

PubMed Link: 31466283

Variant Present in the following documents:

• Main text
• genes-10-00650.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: NF1: 2041C>T; Arg681Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: R681X

PubMed Link: 30963251

Variant Present in the following documents:

• Main text

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Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Molecular Oncology

Calapre, Leslie L; Giardina, Tindaro T; Robinson, Cleo C; Reid, Anna L AL; Al-Ogaili, Zeyad Z; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Warburton, Lydia L; Hayward, Nicholas K NK; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Millward, Michael M; Amanuel, Benhur B; Ziman, Melanie M; Gray, Elin S ES

Publication Date: 2019-02

Variant appearance in text: NF1: Arg681Ter

PubMed Link: 30312528

Variant Present in the following documents:

• MOL2-13-171-s003.xlsx, sheet 1

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Graph complexity analysis identifies an ETV5 tumor-specific network in human and murine low-grade glioma.

Plos One

Pan, Yuan Y; Duron, Christina C; Bush, Erin C EC; Ma, Yu Y; Sims, Peter A PA; Gutmann, David H DH; Radunskaya, Ami A; Hardin, Johanna J

Publication Date: 2018

Variant appearance in text: NF1: 2041C>T; R681X

PubMed Link: 29787563

Variant Present in the following documents:

• Main text
• pone.0190001.pdf

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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: Arg681X

PubMed Link: 29704429

Variant Present in the following documents:

• Main text

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: NF1: Arg681*

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 4

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Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

Orphanet Journal Of Rare Diseases

Cannon, Ashley A; Chen, Mei-Jan MJ; Li, Peng P; Boyd, Kevin P KP; Theos, Amy A; Redden, David T DT; Korf, Bruce B

Publication Date: 2018-02-07

Variant appearance in text: NF1: 2041C>T; R681X

PubMed Link: 29415745

Variant Present in the following documents:

• Main text
• 13023_2018_Article_772.pdf

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Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia.

Nature Communications

Stieglitz, Elliot E; Mazor, Tali T; Olshen, Adam B AB; Geng, Huimin H; Gelston, Laura C LC; Akutagawa, Jon J; Lipka, Daniel B DB; Plass, Christoph C; Flotho, Christian C; Chehab, Farid F FF; Braun, Benjamin S BS; Costello, Joseph F JF; Loh, Mignon L ML

Publication Date: 2017-12-19

Variant appearance in text: NF1: R681*

PubMed Link: 29259179

Variant Present in the following documents:

• 41467_2017_2178_MOESM1_ESM.pdf

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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: R681X

PubMed Link: 29246098

Variant Present in the following documents:

• Main text

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Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature.

Oncotarget

Pan, Yuan Y; Bush, Erin C EC; Toonen, Joseph A JA; Ma, Yu Y; Solga, Anne C AC; Sims, Peter A PA; Gutmann, David H DH

Publication Date: 2017-08-08

Variant appearance in text: NF1: 2041C>T; R681X

PubMed Link: 28881745

Variant Present in the following documents:

• Main text
• oncotarget-08-52474.pdf

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Progression inference for somatic mutations in cancer.

Heliyon

Peterson, Leif E LE; Kovyrshina, Tatiana T

Publication Date: 2017-04

Variant appearance in text: NF1: R681X

PubMed Link: 28492066

Variant Present in the following documents:

• main.pdf

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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: 2041C>T; Arg681*

PubMed Link: 27482814

Variant Present in the following documents:

• Main text

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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: NF1: R681X

PubMed Link: 27269372

Variant Present in the following documents:

• Main text

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Exploring the genetic basis for clinical variation in neurofibromatosis type 1.

Expert Review Of Neurotherapeutics

Gutmann, David H DH

Publication Date: 2016-09

Variant appearance in text: NF1: 2041C>T; Arg681*

PubMed Link: 27171602

Variant Present in the following documents:

• Main text

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De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging.

Radiology Case Reports

Zafar, Rabia R; Hsiao, Esther Y EY; Botteron, Kelly N KN; McKinstry, Robert C RC; Gutmann, David H DH

Publication Date: 2016-03

Variant appearance in text: NF1: 2041C>T; Arg681*

PubMed Link: 26973730

Variant Present in the following documents:

• Main text

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