Publications:

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Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Scientific Reports

Quinn, Leonard M LM; Haldenby, Sam S; Antzcak, Philip P; Fowler, Anna A; Bullock, Katie K; Kenny, John J; Gilbert, Timothy T; Andrews, Timothy T; Diaz-Nieto, Rafael R; Fenwick, Stephen S; Jones, Robert R; Costello-Goldring, Eithne E; Poston, Graeme G; Greenhalf, William W; Palmer, Daniel D; Malik, Hassan H; Goldring, Chris C

Publication Date: 2023-04-24

Variant appearance in text: TSC1: 3103G>A; Gly1035Ser

PubMed Link: 37095160

Variant Present in the following documents:

• 41598_2023_33096_MOESM2_ESM.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: TSC1: 3103G>A; Gly1035Ser; rs118203742

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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Dramatic response to targeted therapy in an aggressive olfactory neuroblastoma: illustrative case.

Journal Of Neurosurgery. Case Lessons

Gupta, Saksham S; Bi, Wenya Linda WL; Annino, Donald J DJ; Dunn, Ian F IF

Publication Date: 2022-06-13

Variant appearance in text: TSC1: G1035S

PubMed Link: 35733633

Variant Present in the following documents:

• Main text

View BVdb publication page

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TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy.

Science Advances

Alquezar, Carolina C; Schoch, Kathleen M KM; Geier, Ethan G EG; Ramos, Eliana Marisa EM; Scrivo, Aurora A; Li, Kathy H KH; Argouarch, Andrea R AR; Mlynarski, Elisabeth E EE; Dombroski, Beth B; DeTure, Michael M; Dickson, Dennis W DW; Yokoyama, Jennifer S JS; Cuervo, Ana M AM; Burlingame, Alma L AL; Schellenberg, Gerard D GD; Miller, Timothy M TM; Miller, Bruce L BL; Kao, Aimee W AW

Publication Date: 2021-11-05

Variant appearance in text: TSC1: G1035S; rs118203742

PubMed Link: 34739309

Variant Present in the following documents:

• Main text
• sciadv.abg3897_sm.pdf
• sciadv.abg3897.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TSC1: 3103G>A; Gly1035Ser; rs118203742

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TSC1: 3103G>A; Gly1035Ser; rs118203742

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: TSC1: 3103G>A; G1035S; rs118203742

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC1: 3103G>A; G1035S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TSC1: 3103G>A; Gly1035Ser

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs118203742

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.

Neurology. Genetics

Wrzeszczynski, Kazimierz O KO; Frank, Mayu O MO; Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Robine, Nicolas N; Utro, Filippo F; Emde, Anne-Katrin AK; Chen, Bo-Juen BJ; Arora, Kanika K; Shah, Minita M; Vacic, Vladimir V; Norel, Raquel R; Bilal, Erhan E; Bergmann, Ewa A EA; Moore Vogel, Julia L JL; Bruce, Jeffrey N JN; Lassman, Andrew B AB; Canoll, Peter P; Grommes, Christian C; Harvey, Steve S; Parida, Laxmi L; Michelini, Vanessa V VV; Zody, Michael C MC; Jobanputra, Vaidehi V; Royyuru, Ajay K AK; Darnell, Robert B RB

Publication Date: 2017-08

Variant appearance in text: TSC1: G1035S

PubMed Link: 28740869

Variant Present in the following documents:

• NG2016004283.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: TSC1: 3103G>A; Gly1035Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: TSC1: 3103G>A; G1035S

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: TSC1: G1035S; rs118203742

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TSC1: G1035S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs118203742

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: TSC1: G1035S; rs118203742

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: TSC1: G1035S; rs118203742

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: TSC1: G1035S; rs118203742

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC1: G1035S

PubMed Link: 23514105

Variant Present in the following documents:

• Main text
• 2040-2392-4-5.pdf
• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: TSC1: 3103G>A

PubMed Link: 22558107

Variant Present in the following documents:

• pone.0035003.s004.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: TSC1: G1035S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File008.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Nellist, Mark M; van den Heuvel, Diana D; Schluep, Diane D; Exalto, Carla C; Goedbloed, Miriam M; Maat-Kievit, Anneke A; van Essen, Ton T; van Spaendonck-Zwarts, Karin K; Jansen, Floor F; Helderman, Paula P; Bartalini, Gabriella G; Vierimaa, Outi O; Penttinen, Maila M; van den Ende, Jenneke J; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2009-03

Variant appearance in text: TSC1: 3103G>A; G1035S

PubMed Link: 18830229

Variant Present in the following documents:

• Main text

View BVdb publication page

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