Publications:

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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: 5488C>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: 5488C>T

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 Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Biomolecules

Maharjan, Dhruba Tara DT; Song, Weichen W; Liu, Zhe Z; Wang, Weidi W; Cai, Wenxiang W; Chen, Jue J; Xu, Fei F; Ying, Weihai W; Lin, Guan Ning GN

Publication Date: 2022-11-06

Variant appearance in text: NF1: R1830C

PubMed Link: 36358993

Variant Present in the following documents:

• biomolecules-12-01643.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: NF1: 5488C>T; Arg1830Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Molecular Genetic Profile of 300 Japanese Patients with Diffuse Gliomas Using a Glioma-tailored Gene Panel.

Neurologia Medico-Chirurgica

Higa, Nayuta N; Akahane, Toshiaki T; Yokoyama, Seiya S; Yonezawa, Hajime H; Uchida, Hiroyuki H; Fujio, Shingo S; Kirishima, Mari M; Takigawa, Kosuke K; Hata, Nobuhiro N; Toh, Keita K; Yamamoto, Junkoh J; Hanaya, Ryosuke R; Tanimoto, Akihide A; Yoshimoto, Koji K

Publication Date: 2022-09-15

Variant appearance in text: NF1: R1830C

PubMed Link: 36031351

Variant Present in the following documents:

• 1349-8029-62-0391-s001.pdf

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: NF1: 5488C>T; R1830C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: NF1: 5488C>T; R1830C

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: NF1: 5488C>T; Arg1830Cys

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

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: 5488C>T; Arg1830Cys

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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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: NF1: R1830C

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: NF1: R1830C

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.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: 5488C>T; Arg1830Cys

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: NF1: 5488C>T; R1830C

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: NF1: 5488C>T; R1830C; rs797045139

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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: R1830C

PubMed Link: 33747896

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.

Orphanet Journal Of Rare Diseases

Meyer, Robert R; Begemann, Matthias M; Hübner, Christian Thomas CT; Dey, Daniela D; Kuechler, Alma A; Elgizouli, Magdeldin M; Schara, Ulrike U; Ambrozaityte, Laima L; Burnyte, Birute B; Schröder, Carmen C; Kenawy, Asmaa A; Kroisel, Peter P; Demuth, Stephanie S; Fekete, Gyorgy G; Opladen, Thomas T; Elbracht, Miriam M; Eggermann, Thomas T

Publication Date: 2021-01-22

Variant appearance in text: NF1: 5488C>T; Arg1830Cys

PubMed Link: 33482836

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1683.pdf

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: NF1: R1830C

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,

Publication Date: 2021-03

Variant appearance in text: NF1: 5488C>T; Arg1830Cys

PubMed Link: 33149276

Variant Present in the following documents:

• 41436_2020_1021_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs797045139

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular Genetics & Genomic Medicine

Witkowski, Leora L; Dillon, Mitchell W MW; Murphy, Elissa E; S Lebo, Matthew M; Mason-Suares, Heather H

Publication Date: 2020-04

Variant appearance in text: NF1: 5488C>T

PubMed Link: 32107864

Variant Present in the following documents:

• Main text
• MGG3-8-e1180.pdf

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: NF1: 5488C>T; Arg1830Cys

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-4.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NF1: 5488C>T; R1830C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: R1830C

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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CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Plos One

Mao, Yong Y; Chen, Han H; Liang, Han H; Meric-Bernstam, Funda F; Mills, Gordon B GB; Chen, Ken K

Publication Date: 2013

Variant appearance in text: NF1: R1830C

PubMed Link: 24205039

Variant Present in the following documents:

• pone.0077945.s001.xls, sheet 11

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: NF1: R1830C

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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