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Alternative splicing is coupled to gene expression in a subset of variably expressed genes.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00432-w
By:
- Karlebach, Guy;
- Steinhaus, Robin;
- Danis, Daniel;
- Devoucoux, Maeva;
- Anczuków, Olga;
- Sheynkman, Gloria;
- Seelow, Dominik;
- Robinson, Peter N.
Publication type:
Article
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Published in:
Nucleic Acids Research, 2019, v. 47, n. D1, p. D1018, doi. 10.1093/nar/gky1105
By:
- Köhler, Sebastian;
- Carmody, Leigh;
- Vasilevsky, Nicole;
- Jacobsen, Julius O B;
- Danis, Daniel;
- Gourdine, Jean-Philippe;
- Gargano, Michael;
- Harris, Nomi L;
- Matentzoglu, Nicolas;
- McMurry, Julie A;
- Osumi-Sutherland, David;
- Cipriani, Valentina;
- Balhoff, James P;
- Conlin, Tom;
- Blau, Hannah;
- Baynam, Gareth;
- Palmer, Richard;
- Gratian, Dylan;
- Dawkins, Hugh;
- Segal, Michael
Publication type:
Article
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01046-6
By:
- Danis, Daniel;
- Jacobsen, Julius O. B.;
- Balachandran, Parithi;
- Zhu, Qihui;
- Yilmaz, Feyza;
- Reese, Justin;
- Haimel, Matthias;
- Lyon, Gholson J.;
- Helbig, Ingo;
- Mungall, Christopher J.;
- Beck, Christine R.;
- Lee, Charles;
- Smedley, Damian;
- Robinson, Peter N.
Publication type:
Article
Phenopacket-tools: Building and validating GA4GH Phenopackets.
Published in:
PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285433
By:
- Danis, Daniel;
- Jacobsen, Julius O. B.;
- Wagner, Alex H.;
- Groza, Tudor;
- Beckwith, Martha A.;
- Rekerle, Lauren;
- Carmody, Leigh C.;
- Reese, Justin;
- Hegde, Harshad;
- Ladewig, Markus S.;
- Seitz, Berthold;
- Munoz-Torres, Monica;
- Harris, Nomi L.;
- Rambla, Jordi;
- Baudis, Michael;
- Mungall, Christopher J.;
- Haendel, Melissa A.;
- Robinson, Peter N.
Publication type:
Article
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Published in:
2022
By:
- Jacobsen, Julius O. B.;
- Baudis, Michael;
- Baynam, Gareth S.;
- Beckmann, Jacques S.;
- Beltran, Sergi;
- Buske, Orion J.;
- Callahan, Tiffany J.;
- Chute, Christopher G.;
- Courtot, Mélanie;
- Danis, Daniel;
- Elemento, Olivier;
- Essenwanger, Andrea;
- Freimuth, Robert R.;
- Gargano, Michael A.;
- Groza, Tudor;
- Hamosh, Ada;
- Harris, Nomi L.;
- Kaliyaperumal, Rajaram;
- Lloyd, Kevin C. Kent;
- Khalifa, Aly
Publication type:
Letter
Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Published in:
Bioinformatics, 2023, v. 39, n. 12, p. 1, doi. 10.1093/bioinformatics/btad716
By:
- Groza, Tudor;
- Wu, Honghan;
- Dinger, Marcel E;
- Danis, Daniel;
- Hilton, Coleman;
- Bagley, Anita;
- Davids, Jon R;
- Luo, Ling;
- Lu, Zhiyong;
- Robinson, Peter N
Publication type:
Article
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.
Published in:
GigaScience, 2020, v. 9, n. 5, p. N.PAG, doi. 10.1093/gigascience/giaa052
By:
- Petrini, Alessandro;
- Mesiti, Marco;
- Schubach, Max;
- Frasca, Marco;
- Danis, Daniel;
- Re, Matteo;
- Grossi, Giuliano;
- Cappelletti, Luca;
- Castrignanò, Tiziana;
- Robinson, Peter N;
- Valentini, Giorgio
Publication type:
Article
Publisher Correction: Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI.
Published in:
2024
By:
- Pekař, Matej;
- Jiravský, Otakar;
- Novák, Jan;
- Branny, Piotr;
- Balušík, Jakub;
- Daniš, Daniel;
- Hečko, Jan;
- Kantor, Marek;
- Prosecky, Robert;
- Blaha, Lubomir;
- Neuwirth, Radek
Publication type:
Correction Notice
Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59134-z
By:
- Pekař, Matej;
- Jiravský, Otakar;
- Novák, Jan;
- Branny, Piotr;
- Balušík, Jakub;
- Daniš, Daniel;
- Hečko, Jan;
- Kantor, Marek;
- Prosecky, Robert;
- Blaha, Lubomir;
- Neuwirth, Radek
Publication type:
Article
CT Evaluated Sarcopenia Signals: Shorter Survival for Small Cell Lung Cancer Patients.
Published in:
Physiological Research, 2021, v. 70, p. S381, doi. 10.33549/physiolres.934816
By:
- PEKAŘOVÁ, Anna;
- PEKAŘ, Matej;
- DANIŠ, Daniel;
- NOVÁKOVÁ, Zuzana
Publication type:
Article
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
Published in:
2019
By:
- Varga, Lukas;
- Danis, Daniel;
- Skopkova, Martina;
- Masindova, Ivica;
- Slobodova, Zuzana;
- Demesova, Lucia;
- Profant, Milan;
- Gasperikova, Daniela
Publication type:
Case Study
GA4GH Phenopackets: A Practical Introduction.
Published in:
Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200016
By:
- Ladewig, Markus S.;
- Jacobsen, Julius O. B.;
- Wagner, Alex H.;
- Danis, Daniel;
- El Kassaby, Baha;
- Gargano, Michael;
- Groza, Tudor;
- Baudis, Michael;
- Steinhaus, Robin;
- Seelow, Dominik;
- Bechrakis, Nikolaos E.;
- Mungall, Christopher J.;
- Schofield, Paul N.;
- Elemento, Olivier;
- Smith, Lindsay;
- McMurry, Julie A.;
- Munoz‐Torres, Monica;
- Haendel, Melissa A.;
- Robinson, Peter N.
Publication type:
Article
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery.
Published in:
NPJ Digital Medicine, 2019, v. 2, p. N.PAG, doi. 10.1038/s41746-019-0110-4
By:
- Zhang, Xingmin Aaron;
- Yates, Amy;
- Vasilevsky, Nicole;
- Gourdine, J. P.;
- Callahan, Tiffany J.;
- Carmody, Leigh C.;
- Danis, Daniel;
- Joachimiak, Marcin P.;
- Ravanmehr, Vida;
- Pfaff, Emily R.;
- Champion, James;
- Robasky, Kimberly;
- Xu, Hao;
- Fecho, Karamarie;
- Walton, Nephi A.;
- Zhu, Richard L.;
- Ramsdill, Justin;
- Mungall, Christopher J.;
- Köhler, Sebastian;
- Haendel, Melissa A.
Publication type:
Article
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.
Published in:
2020
By:
- Carmody, Leigh C.;
- Blau, Hannah;
- Danis, Daniel;
- Zhang, Xingman A.;
- Gourdine, Jean-Philippe;
- Vasilevsky, Nicole;
- Krawitz, Peter;
- Thompson, Miles D.;
- Robinson, Peter N.
Publication type:
journal article
GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution.
Published in:
BMC Genomics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12864-018-5376-4
By:
- Hansen, Peter;
- Ali, Salaheddine;
- Blau, Hannah;
- Danis, Daniel;
- Hecht, Jochen;
- Kornak, Uwe;
- Lupiáñez, Darío G.;
- Mundlos, Stefan;
- Steinhaus, Robin;
- Robinson, Peter N.
Publication type:
Article
Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease.
Published in:
Human Mutation, 2022, v. 43, n. 8, p. 1071, doi. 10.1002/humu.24380
By:
- Jacobsen, Julius O. B.;
- Kelly, Catherine;
- Cipriani, Valentina;
- Research Consortium, Genomics England;
- Mungall, Christopher J.;
- Reese, Justin;
- Danis, Daniel;
- Robinson, Peter N.;
- Smedley, Damian
Publication type:
Article
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Published in:
Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006293
By:
- Sundaramurthi, Jagadish Chandrabose;
- Bagley, Anita M.;
- Blau., Hannah;
- Carmody, Leigh;
- Crandall, Amy;
- Danis, Daniel;
- Gargano, Michael A.;
- Gustafson, Anxhela Gjyshi;
- Raney, Ellen M.;
- Shingle, Mallory;
- Davids, Jon R.;
- Robinson, Peter N.
Publication type:
Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Published in:
Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
By:
- Cipriani, Valentina;
- Pontikos, Nikolas;
- Arno, Gavin;
- Sergouniotis, Panagiotis I.;
- Lenassi, Eva;
- Penpitcha Thawong;
- Danis, Daniel;
- Michaelides, Michel;
- Webster, Andrew R.;
- Moore, Anthony T.;
- Robinson, Peter N.;
- Jacobsen, Julius O. B.;
- Smedley, Damian
Publication type:
Article
HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis.
Published in:
Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02072-6
By:
- Karlebach, Guy;
- Hansen, Peter;
- Veiga, Diogo FT;
- Steinhaus, Robin;
- Danis, Daniel;
- Li, Sheng;
- Anczukow, Olga;
- Robinson, Peter N
Publication type:
Article
Sarcopenia and adipose tissue evaluation by artificial intelligence predicts the overall survival after TAVI.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59134-z
By:
- Pekař, Matej;
- Jiravský, Otakar;
- Novák, Jan;
- Branny, Piotr;
- Balušík, Jakub;
- Daniš, Daniel;
- Hečko, Jan;
- Kantor, Marek;
- Prosecky, Robert;
- Blaha, Lubomir;
- Neuwirth, Radek
Publication type:
Article

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