Publications:

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Genomic, transcriptomic and RNA editing analysis of human MM1 and VV2 sporadic Creutzfeldt-Jakob disease.

Acta Neuropathologica Communications

Tarozzi, Martina M; Baiardi, Simone S; Sala, Claudia C; Bartoletti-Stella, Anna A; Parchi, Piero P; Capellari, Sabina S; Castellani, Gastone G

Publication Date: 2022-12-14

Variant appearance in text: NOTCH3: Val1952Met

PubMed Link: 36517866

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1483.pdf

View BVdb publication page

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Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.

Diagnostics (Basel, Switzerland)

Groen, Karlijn K; Huitema, Marloes P MP; van der Vis, Joanne J JJ; Post, Marco C MC; Grutters, Jan C JC; Baughman, Robert P RP; van Moorsel, Coline H M CHM

Publication Date: 2022-10-21

Variant appearance in text: NOTCH3: 5854G>A; V1952M; rs115582213

PubMed Link: 36292254

Variant Present in the following documents:

• diagnostics-12-02564.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: NOTCH3: 5854G>A; V1952M; rs115582213

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.

International Journal Of Clinical And Experimental Pathology

Yin, Feng F; Wang, Kai K; Hu, Ming M; Starostik, Petr P; Newsom, Kimberly J KJ; Liu, Xiuli X

Publication Date: 2022

Variant appearance in text: NOTCH3: 5854G>A; Val1952Met

PubMed Link: 35145582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: NOTCH3: Val1952Met

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

View BVdb publication page

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Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Molecular Neurodegeneration

Khani, Marzieh M; Gibbons, Elizabeth E; Bras, Jose J; Guerreiro, Rita R

Publication Date: 2022-01-09

Variant appearance in text: NOTCH3: Val1952Met

PubMed Link: 35000612

Variant Present in the following documents:

• Main text
• 13024_2021_Article_505.pdf

View BVdb publication page

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BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion.

Hgg Advances

Sofer, Tamar T; Lee, Jiwon J; Kurniansyah, Nuzulul N; Jain, Deepti D; Laurie, Cecelia A CA; Gogarten, Stephanie M SM; Conomos, Matthew P MP; Heavner, Ben B; Hu, Yao Y; Kooperberg, Charles C; Haessler, Jeffrey J; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Coombes, Brandon J BJ; Seyerle, Amanda A; Gharib, Sina A SA; Chen, Han H; O'Connell, Jeffrey R JR; Zhang, Man M; Gottlieb, Daniel J DJ; Psaty, Bruce M BM; Longstreth, W T WT; Rotter, Jerome I JI; Taylor, Kent D KD; Rich, Stephen S SS; Guo, Xiuqing X; Boerwinkle, Eric E; Morrison, Alanna C AC; Pankow, James S JS; Johnson, Andrew D AD; Pankratz, Nathan N; , ; Reiner, Alex P AP; Redline, Susan S; Smith, Nicholas L NL; Rice, Kenneth M KM; Schifano, Elizabeth D ED

Publication Date: 2021-07-08

Variant appearance in text: rs115582213

PubMed Link: 34337551

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Hoogmartens, Julie J; Cacace, Rita R; Van Broeckhoven, Christine C

Publication Date: 2021

Variant appearance in text: NOTCH3: V1952M

PubMed Link: 33665345

Variant Present in the following documents:

• Main text
• DAD2-13-e12155.pdf

View BVdb publication page

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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: NOTCH3: 5854G>A; Val1952Met

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

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: 5854G>A

PubMed Link: 31811167

Variant Present in the following documents:

• 41598_2019_54517_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_Article_54517.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs115582213

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: rs115582213

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: V1952M; rs115582213

PubMed Link: 29544907

Variant Present in the following documents:

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

View BVdb publication page

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

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; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: NOTCH3: 5854G>A; V1952M; rs115582213

PubMed Link: 29458332

Variant Present in the following documents:

• Main text
• 12881_2018_Article_533.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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: 5854G>A; Val1952Met

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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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Stroke injury, cognitive impairment and vascular dementia.

Biochimica Et Biophysica Acta

Kalaria, Raj N RN; Akinyemi, Rufus R; Ihara, Masafumi M

Publication Date: 2016-05

Variant appearance in text: NOTCH3: V1952M

PubMed Link: 26806700

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: NOTCH3: 5854G>A; V1952M; rs115582213

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: V1952M; rs115582213

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: NOTCH3: V1952M

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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NOTCH3 variants and risk of ischemic stroke.

Plos One

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Verbeeck, Christophe C; Serie, Daniel J DJ; Rayaprolu, Sruti S; Rich, Stephen S SS; Nalls, Michael A MA; Singleton, Andrew A; Guerreiro, Rita R; Kinsella, Emma E; Wszolek, Zbigniew K ZK; Brott, Thomas G TG; Brown, Robert D RD; Worrall, Bradford B BB; Meschia, James F JF

Publication Date: 2013

Variant appearance in text: NOTCH3: V1952M; rs115582213

PubMed Link: 24086431

Variant Present in the following documents:

• Main text
• pone.0075035.pdf

View BVdb publication page

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Genetics of age-related white matter lesions from linkage to genome wide association studies.

Journal Of The Neurological Sciences

Freudenberger, Paul P; Schmidt, Reinhold R; Schmidt, Helena H

Publication Date: 2012-11-15

Variant appearance in text: NOTCH3: V1952M

PubMed Link: 22795385

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of subcortical vascular dementia.

Experimental Gerontology

Schmidt, Helena H; Freudenberger, Paul P; Seiler, Stephan S; Schmidt, Reinhold R

Publication Date: 2012-11

Variant appearance in text: NOTCH3: V1952M

PubMed Link: 22735669

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.

Neurobiology Of Aging

Guerreiro, Rita João RJ; Lohmann, Ebba E; Kinsella, Emma E; Brás, José Miguel JM; Luu, Nga N; Gurunlian, Nicole N; Dursun, Burcu B; Bilgic, Basar B; Santana, Isabel I; Hanagasi, Hasmet H; Gurvit, Hakan H; Gibbs, Jesse Raphael JR; Oliveira, Catarina C; Emre, Murat M; Singleton, Andrew A

Publication Date: 2012-05

Variant appearance in text: NOTCH3: Val1952Met; rs115582213

PubMed Link: 22153900

Variant Present in the following documents:

• Main text

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: NOTCH3: V1952M

PubMed Link: 22006983

Variant Present in the following documents:

• Main text
• awr252.pdf

View BVdb publication page

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