Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: SPINT2: V200L; rs11548457

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: SPINT2: V200L; rs11548457

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: SPINT2: V200L; rs11548457

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.

European Journal Of Medical Research

Niederwanger, Christian C; Lechner, Silvia S; König, Lisa L; Janecke, Andreas R AR; Pototschnig, Claus C; Häussler, Beatrice B; Scholl-Bürgi, Sabine S; Müller, Thomas T; Heinz-Erian, Peter P

Publication Date: 2018-03-02

Variant appearance in text: SPINT2: 598G>C

PubMed Link: 29499739

Variant Present in the following documents:

• Main text
• 40001_2018_Article_312.pdf

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: SPINT2: V200L; rs11548457

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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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: rs11548457

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs11548457

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Nature Communications

Castro-Vega, Luis Jaime LJ; Letouzé, Eric E; Burnichon, Nelly N; Buffet, Alexandre A; Disderot, Pierre-Hélie PH; Khalifa, Emmanuel E; Loriot, Céline C; Elarouci, Nabila N; Morin, Aurélie A; Menara, Mélanie M; Lepoutre-Lussey, Charlotte C; Badoual, Cécile C; Sibony, Mathilde M; Dousset, Bertrand B; Libé, Rossella R; Zinzindohoue, Franck F; Plouin, Pierre François PF; Bertherat, Jérôme J; Amar, Laurence L; de Reyniès, Aurélien A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP

Publication Date: 2015-01-27

Variant appearance in text: SPINT2: 598G>C; Val200Leu

PubMed Link: 25625332

Variant Present in the following documents:

• ncomms7044-s3.xlsx, sheet 1

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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: SPINT2: V200L; rs11548457

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs11548457

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8

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: rs11548457

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs11548457

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

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Hepatocyte growth factor activator inhibitor-2 prevents shedding of matriptase.

Experimental Cell Research

Larsen, Brian R BR; Steffensen, Simon D R SD; Nielsen, Nis V L NV; Friis, Stine S; Godiksen, Sine S; Bornholdt, Jette J; Soendergaard, Christoffer C; Nonboe, Annika W AW; Andersen, Martin N MN; Poulsen, Steen S SS; Szabo, Roman R; Bugge, Thomas H TH; Lin, Chen-Yong CY; Skovbjerg, Hanne H; Jensen, Jan K JK; Vogel, Lotte K LK

Publication Date: 2013-04-01

Variant appearance in text: HAI-2: V200L

PubMed Link: 23333561

Variant Present in the following documents:

• Main text

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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

American Journal Of Human Genetics

Heinz-Erian, Peter P; Müller, Thomas T; Krabichler, Birgit B; Schranz, Melanie M; Becker, Christian C; Rüschendorf, Franz F; Nürnberg, Peter P; Rossier, Bernard B; Vujic, Mihailo M; Booth, Ian W IW; Holmberg, Christer C; Wijmenga, Cisca C; Grigelioniene, Giedre G; Kneepkens, C M Frank CM; Rosipal, Stefan S; Mistrik, Martin M; Kappler, Matthias M; Michaud, Laurent L; Dóczy, Ludwig-Christoph LC; Siu, Victoria Mok VM; Krantz, Marie M; Zoller, Heinz H; Utermann, Gerd G; Janecke, Andreas R AR

Publication Date: 2009-02

Variant appearance in text:

PubMed Link: 19185281

Variant Present in the following documents:

• Main text

View BVdb publication page

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