Publications:

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Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Torres, Guillermo G GG; Nygaard, Marianne M; Caliebe, Amke A; Blanché, Hélène H; Chantalat, Sophie S; Galan, Pilar P; Lieb, Wolfgang W; Christiansen, Lene L; Deleuze, Jean-François JF; Christensen, Kaare K; Strauch, Konstantin K; Müller-Nurasyid, Martina M; Peters, Annette A; Nöthen, Markus M MM; Hoffmann, Per P; Flachsbart, Friederike F; Schreiber, Stefan S; Ellinghaus, David D; Franke, Andre A; Dose, Janina J; Nebel, Almut A

Publication Date: 2021-04-30

Variant appearance in text: rs55882518

PubMed Link: 33491046

Variant Present in the following documents:

• Main text
• glab023.pdf

View BVdb publication page

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Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr

Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2021-01-06

Variant appearance in text: NOTCH3: H1235L; rs55882518

PubMed Link: 33407744

Variant Present in the following documents:

• 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology

Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR

Publication Date: 2021-02

Variant appearance in text: NOTCH3: H1235L

PubMed Link: 33169510

Variant Present in the following documents:

• MOL2-15-381-s009.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: NOTCH3: 3704A>T; His1235Leu; rs55882518

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: NOTCH3: 3704A>T; H1235L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Scientific Reports

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Holth, Arild A; Capella, Gabriel G; Davidson, Ben B; Evans, D Gareth DG; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2019-12-06

Variant appearance in text: NOTCH3: 3704A>T; His1235Leu

PubMed Link: 31811167

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54517.pdf

View BVdb publication page

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Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G

Publication Date: 2020-02

Variant appearance in text: NOTCH3: 3704A>T; H1235L

PubMed Link: 31629061

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.

Brain : A Journal Of Neurology

Zhang, Ming M; Dilliott, Allison A AA; Khallaf, Roaa R; Robinson, John F JF; Hegele, Robert A RA; Comishen, Michael M; Sato, Christine C; Tosto, Giuseppe G; Reitz, Christiane C; Mayeux, Richard R; George-Hyslop, Peter St PS; Freedman, Morris M; Rogaeva, Ekaterina E

Publication Date: 2019-11-01

Variant appearance in text: NOTCH3: H1235L; rs55882518

PubMed Link: 31580390

Variant Present in the following documents:

• Main text

View BVdb publication page

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: NOTCH3: 3704A>T; H1235L

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.

Medicine

Sun, Yong Y; Wei, Yan-Jun YJ; Xing, Ying Y

Publication Date: 2019-08

Variant appearance in text: NOTCH3: H1235L

PubMed Link: 31441874

Variant Present in the following documents:

• medi-98-e16920.pdf

View BVdb publication page

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Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain : A Journal Of Neurology

Mishra, Aniket A; Chauhan, Ganesh G; Violleau, Marie-Helene MH; Vojinovic, Dina D; Jian, Xueqiu X; Bis, Joshua C JC; Li, Shuo S; Saba, Yasaman Y; Grenier-Boley, Benjamin B; Yang, Qiong Q; Bartz, Traci M TM; Hofer, Edith E; Soumaré, Aïcha A; Peng, Fen F; Duperron, Marie-Gabrielle MG; Foglio, Mario M; Mosley, Thomas H TH; Schmidt, Reinhold R; Psaty, Bruce M BM; Launer, Lenore J LJ; Boerwinkle, Eric E; Zhu, Yicheng Y; Mazoyer, Bernard B; Lathrop, Mark M; Bellenguez, Celine C; Van Duijn, Cornelia M CM; Ikram, M Arfan MA; Schmidt, Helena H; Longstreth, W T WT; Fornage, Myriam M; Seshadri, Sudha S; Joutel, Anne A; Tzourio, Christophe C; Debette, Stephanie S

Publication Date: 2019-04-01

Variant appearance in text: NOTCH3: H1235L

PubMed Link: 30859180

Variant Present in the following documents:

• awz024_supplementary_text.pdf

View BVdb publication page

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: rs55882518

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Neurobiology Of Aging

Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Blumenau, Sonja S; Thielke, Mareike M; Josties, Christa C; Freyer, Dorette D; Dietrich, Annette A; Hammer, Monia M; Baier, Michael M; Dirnagl, Ulrich U; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hodges, Angela A; Hardy, John J

Publication Date: 2018-06

Variant appearance in text: NOTCH3: H1235L; rs55882518

PubMed Link: 29544907

Variant Present in the following documents:

• mmc3.xlsx, sheet 4
• mmc3.xlsx, sheet 5

View BVdb publication page

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Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

International Journal Of Molecular Sciences

Muiño, Elena E; Gallego-Fabrega, Cristina C; Cullell, Natalia N; Carrera, Caty C; Torres, Nuria N; Krupinski, Jurek J; Roquer, Jaume J; Montaner, Joan J; Fernández-Cadenas, Israel I

Publication Date: 2017-09-13

Variant appearance in text: NOTCH3: H1235L

PubMed Link: 28902129

Variant Present in the following documents:

• Main text
• ijms-18-01964.pdf

View BVdb publication page

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: NOTCH3: 3704A>T; His1235Leu

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: NOTCH3: 3704A>T; H1235L; rs55882518

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: NOTCH3: H1235L; rs55882518

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: NOTCH3: H1235L; rs55882518

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.

Brain : A Journal Of Neurology

Schmidt, Helena H; Zeginigg, Marion M; Wiltgen, Marco M; Freudenberger, Paul P; Petrovic, Katja K; Cavalieri, Margherita M; Gider, Pierre P; Enzinger, Christian C; Fornage, Myriam M; Debette, Stephanie S; Rotter, Jerome I JI; Ikram, Mohammad A MA; Launer, Lenore J LJ; Schmidt, Reinhold R; ,

Publication Date: 2011-11

Variant appearance in text: CADASIL: H1235L

PubMed Link: 22006983

Variant Present in the following documents:

• Main text

View BVdb publication page

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