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: 6855C>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Iscience

Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E

Publication Date: 2023-02-17

Variant appearance in text: NF1: 6855C>A

PubMed Link: 36818284

Variant Present in the following documents:

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

View BVdb publication page

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Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology

Georgoulias, George G; Zaravinos, Apostolos A

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 36389735

Variant Present in the following documents:

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: 6855C>A; Tyr2285*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.

The Application Of Clinical Genetics

Chaves Rabelo, Natana N; Gomes, Maria Eduarda ME; de Oliveira Moraes, Isabelle I; Cantagalli Pfisterer, Juliana J; Loss de Morais, Guilherme G; Antunes, Deborah D; Caffarena, Ernesto Raúl ER; Llerena, Juan J; Gonzalez, Sayonara S

Publication Date: 2022

Variant appearance in text: NF1: 6855C>A; Tyr2285Ter

PubMed Link: 36304179

Variant Present in the following documents:

• Main text
• tacg-15-153.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 36072793

Variant Present in the following documents:

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: NF1: 6855C>A; Tyr2285*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.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: 6855C>A; Y2285*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.

Frontiers In Genetics

Jürgens, Hannes H; Roht, Laura L; Leitsalu, Liis L; Nõukas, Margit M; Palover, Marili M; Nikopensius, Tiit T; Reigo, Anu A; Kals, Mart M; Kallak, Kersti K; Kütner, Riina R; Budrikas, Kai K; Kuusk, Saskia S; Valvere, Vahur V; Laidre, Piret P; Toome, Kadri K; Rekker, Kadri K; Tooming, Mikk M; Ülle Murumets, ; Kahre, Tiina T; Kruuv-Käo, Krista K; Õunap, Katrin K; Padrik, Peeter P; Metspalu, Andres A; Esko, Tõnu T; Fischer, Krista K; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: rs772295894

PubMed Link: 35938029

Variant Present in the following documents:

• Main text
• fgene-13-881100.pdf

View BVdb publication page

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.

Genes

Napolitano, Filomena F; Dell'Aquila, Milena M; Terracciano, Chiara C; Franzese, Giuseppina G; Gentile, Maria Teresa MT; Piluso, Giulio G; Santoro, Claudia C; Colavito, Davide D; Patanè, Anna A; De Blasiis, Paolo P; Sampaolo, Simone S; Paladino, Simona S; Melone, Mariarosa Anna Beatrice MAB

Publication Date: 2022-06-23

Variant appearance in text: NF1: 6855C>A

PubMed Link: 35885913

Variant Present in the following documents:

• Main text
• genes-13-01130.pdf

View BVdb publication page

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: NF1: Y2285X

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: N/A

PubMed Link: 35617825

Variant Present in the following documents:

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension.

Frontiers In Pediatrics

Lu, Yi-Ting YT; Zhang, Di D; Liu, Xin-Chang XC; Zhang, Qiong-Yu QY; Dong, Xue-Qi XQ; Fan, Peng P; Xiao, Yan Y; Zhou, Xian-Liang XL

Publication Date: 2021

Variant appearance in text: NF1: 6855C>A

PubMed Link: 34988040

Variant Present in the following documents:

• Main text
• fped-09-785982.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: NF1: 6855C>A; Tyr2285Ter

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology

Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G

Publication Date: 2021

Variant appearance in text: NF1: 6855C>A; Y2285X

PubMed Link: 34552580

Variant Present in the following documents:

• DataSheet_4.xlsx, sheet 2

View BVdb publication page

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Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports

Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH

Publication Date: 2021-07-06

Variant appearance in text: NF1: 6855C>A

PubMed Link: 34233200

Variant Present in the following documents:

• NIHMS1722138-supplement-1.pdf
• NIHMS1722138-supplement-2.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: rs772295894

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: rs772295894

PubMed Link: 34080803

Variant Present in the following documents:

• Main text
• MGG3-9-e1631.pdf

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: 6855C>A; Y2285*

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

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: rs772295894

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia

Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE

Publication Date: 2021-09

Variant appearance in text: NF1: Tyr2285*

PubMed Link: 33580203

Variant Present in the following documents:

• 41375_2021_1153_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Identifying the link between multiple myeloma and neurofibromatosis type I.

Blood Research

Rago, Angela A; Tordi, Attilio A; Siniscalchi, Agostina A; Andrizzi, Cristina C; Campagna, Selenia S; Toritto, Tommaso Caravita di TCD

Publication Date: 2020-09-30

Variant appearance in text: NF1: 6855C>A; Tyr2285Ter

PubMed Link: 32989179

Variant Present in the following documents:

• Main text
• BR-55-187.pdf

View BVdb publication page

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Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.

International Journal Of Molecular Sciences

Geissler, Klaus K; Jäger, Eva E; Barna, Agnes A; Gurbisz, Michael M; Graf, Temeida T; Graf, Elmir E; Nösslinger, Thomas T; Pfeilstöcker, Michael M; Tüchler, Heinz H; Sliwa, Thamer T; Keil, Felix F; Geissler, Christoph C; Heibl, Sonja S; Thaler, Josef J; Machherndl-Spandl, Sigrid S; Zach, Otto O; Weltermann, Ansgar A; Bettelheim, Peter P; Stauder, Reinhard R; Zebisch, Armin A; Sill, Heinz H; Schwarzinger, Ilse I; Schneeweiss, Bruno B; Öhler, Leopold L; Ulsperger, Ernst E; Kusec, Rajko R; Germing, Ulrich U; Sperr, Wolfgang R WR; Knöbl, Paul P; Jäger, Ulrich U; Hörmann, Gregor G; Valent, Peter P

Publication Date: 2020-04-24

Variant appearance in text: NF1: Tyr2285*

PubMed Link: 32344757

Variant Present in the following documents:

• ijms-21-03025-s001.pdf

View BVdb publication page

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Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer.

Cancer Cell

Zheng, Ze-Yi ZY; Anurag, Meenakshi M; Lei, Jonathan T JT; Cao, Jin J; Singh, Purba P; Peng, Jianheng J; Kennedy, Hilda H; Nguyen, Nhu-Chau NC; Chen, Yue Y; Lavere, Philip P; Li, Jing J; Du, Xin-Hui XH; Cakar, Burcu B; Song, Wei W; Kim, Beom-Jun BJ; Shi, Jiejun J; Seker, Sinem S; Chan, Doug W DW; Zhao, Guo-Qiang GQ; Chen, Xi X; Banks, Kimberly C KC; Lanman, Richard B RB; Shafaee, Maryam Nemati MN; Zhang, Xiang H-F XH; Vasaikar, Suhas S; Zhang, Bing B; Hilsenbeck, Susan G SG; Li, Wei W; Foulds, Charles E CE; Ellis, Matthew J MJ; Chang, Eric C EC

Publication Date: 2020-03-16

Variant appearance in text: NF1: Y2285*

PubMed Link: 32142667

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: NF1: 6855C>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Ewing sarcoma in a child with neurofibromatosis type 1.

Cold Spring Harbor Molecular Case Studies

Fernandez, Karen S KS; Turski, Michelle L ML; Shah, Avanthi Tayi AT; Bastian, Boris C BC; Horvai, Andrew A; Hardee, Steven S; Sweet-Cordero, E Alejandro EA

Publication Date: 2019-10

Variant appearance in text: NF1: 6855C>A; Y2285*; rs772295894

PubMed Link: 31645347

Variant Present in the following documents:

• Main text
• MCS004580Fer.pdf

View BVdb publication page

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Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Oncotarget

Nesline, Mary K MK; DePietro, Paul P; Dy, Grace K GK; Early, Amy A; Papanicolau-Sengos, Antonios A; Conroy, Jeffrey M JM; Lenzo, Felicia L FL; Glenn, Sean T ST; Chen, Hongbin H; Grand'Maison, Anne A; Boland, Patrick P; Ernstoff, Marc S MS; Puzanov, Igor I; Edge, Stephen S; Akers, Stacey S; Opyrchal, Mateusz M; Chatta, Gurkamal G; Odunsi, Kunle K; Frederick, Peter P; Lele, Shashikant S; Gardner, Mark M; Morrison, Carl C

Publication Date: 2019-07-23

Variant appearance in text: NF1: 6855C>A; Y2285X

PubMed Link: 31384390

Variant Present in the following documents:

• oncotarget-10-4616-s003.xlsx, sheet 1

View BVdb publication page

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Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine

Chen, Linlin L; Xue, Feng F; Xu, Jia J; He, Jinwei J; Fu, Wenzhen W; Zhang, Zhenlin Z; Kang, Qinglin Q

Publication Date: 2019-09

Variant appearance in text: NF1: 6855C>A; Tyr2285*

PubMed Link: 31347283

Variant Present in the following documents:

• Main text
• MGG3-7-e904.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: 6855C>A; Tyr2285Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.

The American Journal Of Surgical Pathology

Schaefer, Inga-Marie IM; Dong, Fei F; Garcia, Elizabeth P EP; Fletcher, Christopher D M CDM; Jo, Vickie Y VY

Publication Date: 2019-06

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 30864974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: NF1: Y2285*

PubMed Link: 30828495

Variant Present in the following documents:

• peerj-07-6501-s001.xlsx, sheet 8

View BVdb publication page

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Clinical resistance to crenolanib in acute myeloid leukemia due to diverse molecular mechanisms.

Nature Communications

Zhang, Haijiao H; Savage, Samantha S; Schultz, Anna Reister AR; Bottomly, Daniel D; White, Libbey L; Segerdell, Erik E; Wilmot, Beth B; McWeeney, Shannon K SK; Eide, Christopher A CA; Nechiporuk, Tamilla T; Carlos, Amy A; Henson, Rachel R; Lin, Chenwei C; Searles, Robert R; Ho, Hoang H; Lam, Yee Ling YL; Sweat, Richard R; Follit, Courtney C; Jain, Vinay V; Lind, Evan E; Borthakur, Gautam G; Garcia-Manero, Guillermo G; Ravandi, Farhad F; Kantarjian, Hagop M HM; Cortes, Jorge J; Collins, Robert R; Buelow, Daelynn R DR; Baker, Sharyn D SD; Druker, Brian J BJ; Tyner, Jeffrey W JW

Publication Date: 2019-01-16

Variant appearance in text: NF1: Y2285*

PubMed Link: 30651561

Variant Present in the following documents:

• 41467_2018_8263_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.

Journal Of Biomedical Science

Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR

Publication Date: 2018-10-05

Variant appearance in text: NF1: 6855C>A

PubMed Link: 30290804

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Diagnostic Pathology

Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z

Publication Date: 2018-08-16

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 30111351

Variant Present in the following documents:

• Main text
• 13000_2018_Article_732.pdf

View BVdb publication page

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Pineal region glioblastomas display features of diffuse midline and non-midline gliomas.

Journal Of Neuro-Oncology

D'Amico, Randy S RS; Zanazzi, George G; Wu, Peter P; Canoll, Peter P; Bruce, Jeffrey N JN

Publication Date: 2018-10

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 29992434

Variant Present in the following documents:

• Main text

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: NF1: Y2285*

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

Hematology Reports

Accardi, Fabrizio F; Marchica, Valentina V; Mancini, Cristina C; Maredi, Elena E; Racano, Costantina C; Notarfranchi, Laura L; Martorana, Davide D; Storti, Paola P; Martella, Eugenia E; Palma, Benedetta Dalla BD; Craviotto, Luisa L; Filippo, Massimo De M; Percesepe, Antonio A; Aversa, Franco F; Giuliani, Nicola N

Publication Date: 2018-03-02

Variant appearance in text: NF1: 6855C>A; Tyr2285Ter

PubMed Link: 29721253

Variant Present in the following documents:

• Main text
• hr-10-1-7457.pdf

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: N/A

PubMed Link: 29657128

Variant Present in the following documents:

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: 6855C>A

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1
• NIHMS958974-supplement-6.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NF1: 6855C>A; Tyr2285Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: NF1: 6855C>A; Y2285*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Oncotarget

Chae, Young Kwang YK; Davis, Andrew A AA; Carneiro, Benedito A BA; Chandra, Sunandana S; Mohindra, Nisha N; Kalyan, Aparna A; Kaplan, Jason J; Matsangou, Maria M; Pai, Sachin S; Costa, Ricardo R; Jovanovic, Borko B; Cristofanilli, Massimo M; Platanias, Leonidas C LC; Giles, Francis J FJ

Publication Date: 2016-10-04

Variant appearance in text: NF1: Y2285*

PubMed Link: 27588476

Variant Present in the following documents:

• oncotarget-07-65364-s001.pdf

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: 6855C>A; Y2285*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.

Medicine

Zhu, Lude L; Zhang, Yunfeng Y; Tong, Hanxing H; Shao, Minhua M; Gu, Yong Y; Du, Xufeng X; Wang, Peiru P; Shi, Lei L; Zhang, Linglin L; Bi, Mingye M; Wang, Xiuli X; Zhang, Guolong G

Publication Date: 2016-03

Variant appearance in text: NF1: 6855C>A

PubMed Link: 26962827

Variant Present in the following documents:

• Main text
• medi-95-e03043.pdf

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Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes.

Nature Communications

Dhanasekaran, Saravana M SM; Balbin, O Alejandro OA; Chen, Guoan G; Nadal, Ernest E; Kalyana-Sundaram, Shanker S; Pan, Jincheng J; Veeneman, Brendan B; Cao, Xuhong X; Malik, Rohit R; Vats, Pankaj P; Wang, Rui R; Huang, Stephanie S; Zhong, Jinjie J; Jing, Xiaojun X; Iyer, Matthew M; Wu, Yi-Mi YM; Harms, Paul W PW; Lin, Jules J; Reddy, Rishindra R; Brennan, Christine C; Palanisamy, Nallasivam N; Chang, Andrew C AC; Truini, Anna A; Truini, Mauro M; Robinson, Dan R DR; Beer, David G DG; Chinnaiyan, Arul M AM

Publication Date: 2014-12-22

Variant appearance in text: N/A

PubMed Link: 25531467

Variant Present in the following documents:

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: NF1: Y2285*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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