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: 1541_1542del

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: 1541_1542del; Gln514fs

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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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: NF1: 1541_1542del; Q514fs

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

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: 1541_1542delAG; Gln514Argfs*43

PubMed Link: 36612057

Variant Present in the following documents:

• cancers-15-00059.pdf

View BVdb publication page

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The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature.

Frontiers In Neurology

Gao, Ming M; Liu, Haokun H; Sun, Qiying Q; Yang, Guang G

Publication Date: 2022

Variant appearance in text: NF1: 1541_1542del; Q514Rfs

PubMed Link: 35979058

Variant Present in the following documents:

• Main text
• fneur-13-874613.pdf

View BVdb publication page

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Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta Neuropathologica

Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA

Publication Date: 2022-10

Variant appearance in text: NF1: 1541_1542delAG; Q514fs

PubMed Link: 35945463

Variant Present in the following documents:

• 401_2022_2478_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Defining RASopathy.

Disease Models & Mechanisms

Rauen, Katherine A KA

Publication Date: 2022-02-01

Variant appearance in text: NF1: 1541_1542delAG

PubMed Link: 35103797

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defining RASopathy.

Disease Models & Mechanisms

Rauen, Katherine A KA

Publication Date: 2022-02-01

Variant appearance in text: NF1: 1541_1542delAG

PubMed Link: 35103797

Variant Present in the following documents:

• Main text

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NF1: Q514Rfs*43

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes

Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M

Publication Date: 2020-06-19

Variant appearance in text: NF1: 1541_1542delAG; Gln514Argfs*43

PubMed Link: 32575496

Variant Present in the following documents:

• Main text
• genes-11-00671.pdf

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: 1541_1542delAG

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.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: 1541_1542delAG; Gln514ArgfsX43

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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The genetic landscape of ganglioglioma.

Acta Neuropathologica Communications

Pekmezci, Melike M; Villanueva-Meyer, Javier E JE; Goode, Benjamin B; Van Ziffle, Jessica J; Onodera, Courtney C; Grenert, James P JP; Bastian, Boris C BC; Chamyan, Gabriel G; Maher, Ossama M OM; Khatib, Ziad Z; Kleinschmidt-DeMasters, Bette K BK; Samuel, David D; Mueller, Sabine S; Banerjee, Anuradha A; Clarke, Jennifer L JL; Cooney, Tabitha T; Torkildson, Joseph J; Gupta, Nalin N; Theodosopoulos, Philip P; Chang, Edward F EF; Berger, Mitchel M; Bollen, Andrew W AW; Perry, Arie A; Tihan, Tarik T; Solomon, David A DA

Publication Date: 2018-06-07

Variant appearance in text: NF1: 1541_1542del; Q514fs

PubMed Link: 29880043

Variant Present in the following documents:

• 40478_2018_551_MOESM1_ESM.xlsx, sheet 5
• 40478_2018_551_MOESM2_ESM.pdf

View BVdb publication page

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Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Noë, Michaël M; Pea, Antonio A; Luchini, Claudio C; Felsenstein, Matthäus M; Barbi, Stefano S; Bhaijee, Feriyl F; Yonescu, Raluca R; Ning, Yi Y; Adsay, N Volkan NV; Zamboni, Giuseppe G; Lawlor, Rita T RT; Scarpa, Aldo A; Offerhaus, G Johan A GJA; Brosens, Lodewijk A A LAA; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Wood, Laura D LD

Publication Date: 2018-10

Variant appearance in text: N/A

PubMed Link: 29849115

Variant Present in the following documents:

View BVdb publication page

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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: 1541_1542delAG

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page

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Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg

Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I

Publication Date: 2017-06-30

Variant appearance in text: NF1: 1541_1542delAG; Gln514Argfs

PubMed Link: 28924536

Variant Present in the following documents:

• Main text
• bjmg-20-013.pdf

View BVdb publication page

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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: 1541_1542delAG; Gln514Argfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 1541_1542delAG; Q514fs*43

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.

Oncology Letters

Ponti, Giovanni G; Pellacani, Giovanni G; Martorana, Davide D; Mandel, Victor Desmond VD; Loschi, Pietro P; Pollio, Annamaria A; Pecchi, Annarita A; Dealis, Cristina C; Seidenari, Stefania S; Tomasi, Aldo A

Publication Date: 2016-06

Variant appearance in text: NF1: 1541_1542del; Gln514Argfs*43

PubMed Link: 27284375

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Oncotarget

Varin, Jennifer J; Poulain, Laury L; Hivelin, Mikael M; Nusbaum, Patrick P; Hubas, Arnaud A; Laurendeau, Ingrid I; Lantieri, Laurent L; Wolkenstein, Pierre P; Vidaud, Michel M; Pasmant, Eric E; Chapuis, Nicolas N; Parfait, Béatrice B

Publication Date: 2016-06-14

Variant appearance in text: NF1: 1541_1542delAG; Gln514fs

PubMed Link: 26840085

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers

Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K

Publication Date: 2014-11

Variant appearance in text: NF1: 1541_1542delAG; Gln514Argfs

PubMed Link: 25325900

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Human Genomics

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

Publication Date: 2011-10

Variant appearance in text: NF1: 1541_1542delAG; Gln514ArgfsX43

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

View BVdb publication page

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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research

Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR

Publication Date: 2009-09-15

Variant appearance in text: NF1: 1541_1542delAG

PubMed Link: 19738042

Variant Present in the following documents:

• Main text

View BVdb publication page

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