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Neurodegenerative diseases: Lessons from genome-wide screens in small model organisms.
Published in:
EMBO Molecular Medicine, 2009, v. 1, n. 8/9, p. 360, doi. 10.1002/emmm.200900051
By:
- van Ham, Tjakko J.;
- Breitling, Rainer;
- Swertz, Morris A.;
- Nollen, Ellen A. A.
Publication type:
Article
Consensus and conflict cards for metabolic pathway databases.
Published in:
BMC Systems Biology, 2013, v. 7, n. 1, p. 1, doi. 10.1186/1752-0509-7-50
By:
- Stobbe, Miranda D.;
- Swertz, Morris A.;
- Thiele, Ines;
- Rengaw, Trebor;
- Van Kampen, Antoine H.C.;
- Moerland, Perry D.
Publication type:
Article
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12222, doi. 10.3390/ijms222212222
By:
- Vermeer, Franciscus C.;
- Bremer, Jeroen;
- Sietsma, Robert J.;
- Sandilands, Aileen;
- Hickerson, Robyn P.;
- Bolling, Marieke C.;
- Pasmooij, Anna M.G.;
- Lemmink, Henny H.;
- Swertz, Morris A.;
- Knoers, Nine V.A.M.;
- van der Velde, K. Joeri;
- van den Akker, Peter C.
Publication type:
Article
A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR.
Published in:
Data Science Journal, 2023, v. 22, p. 1, doi. 10.5334/dsj-2023-012
By:
- van Damme, Philip;
- Moreno, Pablo Alarcón;
- Bernabé, César H.;
- Ballesteros, Alberto Cámara;
- Le Cornec, Clémence M. A.;
- Dos Santos Vieira, Bruna;
- van der Velde, K. Joeri;
- Zhang, Shuxin;
- Carta, Claudio;
- Cornet, Ronald;
- 't Hoen, Peter A.C.;
- Jacobsen, Annika;
- Swertz, Morris A.;
- Roos, Marco;
- Benis, Nirupama
Publication type:
Article
WormQTLHD—a web database for linking human disease to natural variation data in C. elegans.
Published in:
Nucleic Acids Research, 2014, v. 42, n. D1, p. D794, doi. 10.1093/nar/gkt1044
By:
- van der Velde, K. Joeri;
- de Haan, Mark;
- Zych, Konrad;
- Arends, Danny;
- Snoek, L. Basten;
- Kammenga, Jan E.;
- Jansen, Ritsert C.;
- Swertz, Morris A.;
- Li, Yang
Publication type:
Article
WormQTL—public archive and analysis web portal for natural variation data in Caenorhabditis spp.
Published in:
Nucleic Acids Research, 2013, v. 41, p. D738, doi. 10.1093/nar/gks1124
By:
- Snoek, L. Basten;
- Van der Velde, K. Joeri;
- Arends, Danny;
- Yang Li;
- Beyer, Antje;
- Elvin, Mark;
- Fisher, Jasmin;
- Hajnal, Alex;
- Hengartner, Michael O.;
- Poulin, Gino B.;
- Rodriguez, Miriam;
- Schmid, Tobias;
- Schrimpf, Sabine;
- Feng Xue;
- Jansen, Ritsert C.;
- Kammenga, Jan E.;
- Swertz, Morris A.
Publication type:
Article
Genome-wide patterns and properties of de novo mutations in humans.
Published in:
Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
By:
- Francioli, Laurent C;
- Menelaou, Androniki;
- Renkens, Ivo;
- Kloosterman, Wigard P;
- Guryev, Victor;
- Arndt, Peter F;
- de Bakker, Paul I W;
- Polak, Paz P;
- Chun, Sung;
- Sunyaev, Shamil R;
- Koren, Amnon;
- van Duijn, Cornelia M;
- Swertz, Morris;
- Wijmenga, Cisca;
- van Ommen, Gertjan;
- Slagboom, P Eline;
- Boomsma, Dorret I;
- Ye, Kai
Publication type:
Article
Stress and anxiety during pregnancy and length of gestation: a federated study using data from five Canadian and European birth cohorts.
Published in:
European Journal of Epidemiology, 2024, v. 39, n. 7, p. 773, doi. 10.1007/s10654-024-01126-4
By:
- Bergeron, Julie;
- Avraam, Demetris;
- Calas, Lucinda;
- Fraser, William;
- Harris, Jennifer R.;
- Heude, Barbara;
- Mandhane, Piush;
- Moraes, Theo J.;
- Muckle, Gina;
- Nader, Johanna;
- Séguin, Jean R.;
- Simons, Elinor;
- Subbarao, Padmaja;
- Swertz, Morris A.;
- Tough, Suzanne;
- Turvey, Stuart E.;
- Fortier, Isabel;
- Rod, Naja Hulvej;
- Andersen, Anne-Marie Nybo
Publication type:
Article
Bioinformatics tools and database resources for systems genetics analysis in mice—a short review and an evaluation of future needs.
Published in:
Briefings in Bioinformatics, 2012, v. 13, n. 2, p. 135, doi. 10.1093/bib/bbr026
By:
- Durrant, Caroline;
- Swertz, Morris A.;
- Alberts, Rudi;
- Arends, Danny;
- Möller, Steffen;
- Mott, Richard;
- Prins, Pjotr;
- van der Velde, K. Joeri;
- Jansen, Ritsert C.;
- Schughart, Klaus
Publication type:
Article
Solutions for data integration in functional genomics: a critical assessment and case study.
Published in:
Briefings in Bioinformatics, 2008, v. 9, n. 6, p. 532, doi. 10.1093/bib/bbn040
By:
- Smedley, Damian;
- Swertz, Morris A.;
- Wolstencroft, Katy;
- Proctor, Glenn;
- Zoouberakis, Michael;
- Bard, Jonathan;
- Hancock, John M.;
- Schofield, Paul
Publication type:
Article
Combining microarrays and genetic analysis.
Published in:
Briefings in Bioinformatics, 2005, v. 6, n. 2, p. 135, doi. 10.1093/bib/6.2.135
By:
- Alberts, Rudi;
- Jingyuan Fu;
- Swertz, Morris A.;
- Lubbers, L. Alrik;
- Albers, Casper J.;
- Jansen, Ritsert C.
Publication type:
Article
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Published in:
Scientific Reports, 2016, p. 38359, doi. 10.1038/srep38359
By:
- Sikkema-Raddatz, Birgit;
- Johansson, Lennart F.;
- de Boer, Eddy N.;
- Boon, Elles M. J.;
- Suijkerbuijk, Ron F.;
- Bouman, Katelijne;
- Bilardo, Catia M.;
- Swertz, Morris A.;
- Dijkstra, Martijn;
- van Langen, Irene M.;
- Sinke, Richard J.;
- te Meerman, Gerard J.
Publication type:
Article
A novel biomarker panel for irritable bowel syndrome and the application in the general population.
Published in:
Scientific Reports, 2016, p. 26420, doi. 10.1038/srep26420
By:
- Mujagic, Zlatan;
- Tigchelaar, Ettje F.;
- Zhernakova, Alexandra;
- Ludwig, Thomas;
- Ramiro-Garcia, Javier;
- Baranska, Agnieszka;
- Swertz, Morris A.;
- Masclee, Ad A. M.;
- Wijmenga, Cisca;
- van Schooten, Frederik J.;
- Smolinska, Agnieszka;
- Jonkers, Daisy M. A. E.
Publication type:
Article
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
Published in:
Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00264-6
By:
- Kaliyaperumal, Rajaram;
- Wilkinson, Mark D.;
- Moreno, Pablo Alarcón;
- Benis, Nirupama;
- Cornet, Ronald;
- dos Santos Vieira, Bruna;
- Dumontier, Michel;
- Bernabé, César Henrique;
- Jacobsen, Annika;
- Le Cornec, Clémence M. A.;
- Godoy, Mario Prieto;
- Queralt-Rosinach, Núria;
- Schultze Kool, Leo J.;
- Swertz, Morris A.;
- van Damme, Philip;
- van der Velde, K. Joeri;
- Lalout, Nawel;
- Zhang, Shuxin;
- Roos, Marco
Publication type:
Article
Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121104
By:
- Farlow, Janice L.;
- Lin, Hai;
- Sauerbeck, Laura;
- Lai, Dongbing;
- Koller, Daniel L.;
- Pugh, Elizabeth;
- Hetrick, Kurt;
- Ling, Hua;
- Kleinloog, Rachel;
- van der Vlies, Pieter;
- Deelen, Patrick;
- Swertz, Morris A.;
- Verweij, Bon H.;
- Regli, Luca;
- Rinkel, Gabriel J. E.;
- Ruigrok, Ynte M.;
- Doheny, Kimberly;
- Liu, Yunlong;
- Broderick, Joseph;
- Foroud, Tatiana
Publication type:
Article
The Impact of Mode of Birth, and Episiotomy, on Postpartum Sexual Function in the Medium- and Longer-Term: An Integrative Systematic Review.
Published in:
International Journal of Environmental Research & Public Health, 2023, v. 20, n. 7, p. 5252, doi. 10.3390/ijerph20075252
By:
- Fanshawe, Anne-Marie;
- De Jonge, Ank;
- Ginter, Nicole;
- Takács, Lea;
- Dahlen, Hannah G.;
- Swertz, Morris A.;
- Peters, Lilian L.
Publication type:
Article
Beyond standardization: dynamic software infrastructures for systems biology.
Published in:
Nature Reviews Genetics, 2007, v. 8, n. 3, p. 235, doi. 10.1038/nrg2048
By:
- Swertz, Morris A.;
- Jansen, Ritsert C.
Publication type:
Article
SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data.
Published in:
Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav089
By:
- Chao Pang;
- Sollie, Annet;
- Sijtsma, Anna;
- Hendriksen, Dennis;
- Charbon, Bart;
- de Haan, Mark;
- de Boer, Tommy;
- Kelpin, Fleur;
- Jetten, Jonathan;
- van der Velde, Joeri K.;
- Smidt, Nynke;
- Sijmons, Rolf;
- Hillege, Hans;
- Swertz, Morris A.
Publication type:
Article
Mouse Resource Browser—a database of mouse databases.
Published in:
Database: The Journal of Biological Databases & Curation, 2010, v. 2010, p. 1, doi. 10.1093/database/baq010
By:
- Zouberakis, Michael;
- Chandras, Christina;
- Swertz, Morris;
- Smedley, Damian;
- Gruenberger, Michael;
- Bard, Jonathan;
- Schughart, Klaus;
- Rosenthal, Nadia;
- Hancock, John M.;
- Schofield, Paul N.;
- Kollias, George;
- Aidinis, Vassilis
Publication type:
Article
The Genome of the Netherlands: design, and project goals.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 2, p. 221, doi. 10.1038/ejhg.2013.118
By:
- Boomsma, Dorret I;
- Wijmenga, Cisca;
- Slagboom, Eline P;
- Swertz, Morris A;
- Karssen, Lennart C;
- Abdellaoui, Abdel;
- Ye, Kai;
- Guryev, Victor;
- Vermaat, Martijn;
- van Dijk, Freerk;
- Francioli, Laurent C;
- Hottenga, Jouke Jan;
- Laros, Jeroen F J;
- Li, Qibin;
- Li, Yingrui;
- Cao, Hongzhi;
- Chen, Ruoyan;
- Du, Yuanping;
- Li, Ning;
- Cao, Sujie
Publication type:
Article
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02657-x
By:
- Engwerda, Aafke;
- Frentz, Barbara;
- Rraku, Eleana;
- de Souza, Nadia F. Simoes;
- Swertz, Morris A.;
- Plantinga, Mirjam;
- Kerstjens-Frederikse, Wilhelmina S.;
- Ranchor, Adelita V.;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02670-0
By:
- Rraku, Eleana;
- Kerstjens-Frederikse, Wilhelmina S.;
- Swertz, Morris A.;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.;
- Engwerda, Aafke
Publication type:
Article
VarioML framework for comprehensive variation data representation and exchange.
Published in:
BMC Bioinformatics, 2012, v. 13, n. 1, p. 254, doi. 10.1186/1471-2105-13-254
By:
- Byrne, Myles;
- Fokkema, Ivo FAC;
- Lancaster, Owen;
- Adamusiak, Tomasz;
- Ahonen-Bishopp, Anni;
- Atlan, David;
- Béroud, Christophe;
- Cornell, Michael;
- Dalgleish, Raymond;
- Devereau, Andrew;
- Patrinos, George P.;
- Swertz, Morris A.;
- Taschner, Peter EM;
- Thorisson, Gudmundur A.;
- Vihinen, Mauno;
- Brookes, Anthony J.;
- Muilu, Juha
Publication type:
Article
OntoCAT - simple ontology search and integration in Java, R and REST/JavaScript.
Published in:
2011
By:
- Adamusiak, Tomasz;
- Burdett, Tony;
- Kurbatova, Natalja;
- van der Velde, K. Joeri;
- Abeygunawardena, Niran;
- Antonakaki, Despoina;
- Kapushesky, Misha;
- Parkinson, Helen;
- Swertz, Morris A.
Publication type:
Product Review
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.
Published in:
BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-S12-S12
By:
- Swertz, Morris A.;
- Dijkstra, Martijn;
- Adamusiak, Tomasz;
- van der Velde, Joeri K.;
- Kanterakis, Alexandros;
- Roos, Erik T.;
- Lops, Joris;
- Thorisson, Gudmundur A.;
- Arends, Danny;
- Byelas, George;
- Muilu, Juha;
- Brookes, Anthony J.;
- de Brock, Engbert O.;
- Jansen, Ritsert C.;
- Parkinson, Helen
Publication type:
Article
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe.
Published in:
Pharmacoepidemiology & Drug Safety, 2024, v. 33, n. 8, p. 1, doi. 10.1002/pds.5884
By:
- Gini, Rosa;
- Pajouheshnia, Romin;
- Gutierrez, Lia;
- Swertz, Morris A.;
- Hyde, Eleanor;
- Sturkenboom, Miriam;
- Arana, Alejandro;
- Franzoni, Carla;
- Ehrenstein, Vera;
- Roberto, Giuseppe;
- Gil, Miguel;
- Maciá, Miguel Angel;
- Schäfer, Wiebke;
- Haug, Ulrike;
- Thurin, Nicolas H.;
- Lassalle, Régis;
- Droz‐Perroteau, Cécile;
- Zaccagnino, Silvia;
- Busto, Maria Paula;
- Middelkoop, Bas
Publication type:
Article
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe.
Published in:
Pharmacoepidemiology & Drug Safety, 2024, v. 33, n. 8, p. 1, doi. 10.1002/pds.5871
By:
- Pajouheshnia, Romin;
- Gini, Rosa;
- Gutierrez, Lia;
- Swertz, Morris A.;
- Hyde, Eleanor;
- Sturkenboom, Miriam;
- Arana, Alejandro;
- Franzoni, Carla;
- Ehrenstein, Vera;
- Roberto, Giuseppe;
- Gil, Miguel;
- Maciá, Miguel Angel;
- Schäfer, Wiebke;
- Haug, Ulrike;
- Thurin, Nicolas H.;
- Lassalle, Régis;
- Droz‐Perroteau, Cécile;
- Zaccagnino, Silvia;
- Busto, Maria Paula;
- Middelkoop, Bas
Publication type:
Article
A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
Published in:
Advanced Genetics, 2020, v. 1, n. 1, p. 1, doi. 10.1002/ggn2.10023
By:
- Velde, K. Joeri;
- Hoek, Sander;
- Dijk, Freerk;
- Hendriksen, Dennis;
- Diemen, Cleo C.;
- Johansson, Lennart F.;
- Abbott, Kristin M.;
- Deelen, Patrick;
- Sikkema‐Raddatz, Birgit;
- Swertz, Morris A.
Publication type:
Article
BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing.
Published in:
2015
By:
- Pang, Chao;
- Hendriksen, Dennis;
- Dijkstra, Martijn;
- van der Velde, K. Joeri;
- Kuiper, Joel;
- Hillege, Hans L.;
- Swertz, Morris A.
Publication type:
Product Review
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Published in:
Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1215869
By:
- Maassen, Willem;
- Legger, Geertje;
- Cinar, Ovgu Kul;
- van Daele, Paul;
- Gattorno, Marco;
- Bader-Meunier, Brigitte;
- Wouters, Carine;
- Briggs, Tracy;
- Johansson, Lennart;
- van der Velde, Joeri;
- Swertz, Morris;
- Omoyinmi, Ebun;
- Hoppenreijs, Esther;
- Belot, Alexandre;
- Eleftheriou, Despina;
- Caorsi, Roberta;
- Aeschlimann, Florence;
- Boursier, Guilaine;
- Brogan, Paul;
- Haimel, Matthias
Publication type:
Article
Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes.
Published in:
Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00613
By:
- Lopera Maya, Esteban A.;
- van der Graaf, Adriaan;
- Lanting, Pauline;
- van der Geest, Marije;
- Fu, Jingyuan;
- Swertz, Morris;
- Franke, Lude;
- Wijmenga, Cisca;
- Deelen, Patrick;
- Zhernakova, Alexandra;
- Sanna, Serena
Publication type:
Article
Modifiers of mutant huntingtin aggregation.
Published in:
PLoS Currents, 2011, p. 399, doi. 10.1371/currents.RRN1255
By:
- Teuling, Eva;
- Bourgonje, Annika;
- Veenje, Sven;
- Thijssen, Karen;
- de Boer, Jelle;
- van der Velde, Joeri;
- Swertz, Morris;
- Nollen, Ellen
Publication type:
Article
Molgenis-impute: imputation pipeline in a box.
Published in:
BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1309-3
By:
- Kanterakis, Alexandros;
- Deelen, Patrick;
- van Dijk, Freerk;
- Byelas, Heorhiy;
- Dijkstra, Martijn;
- Swertz, Morris A.
Publication type:
Article
Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration.
Published in:
BMC Research Notes, 2014, v. 7, n. 1, p. 477, doi. 10.1186/1756-0500-7-901
By:
- Deelen, Patrick;
- Bonder, Marc Jan;
- van der Velde, K. Joeri;
- Westra, Harm-Jan;
- Winder, Erwin;
- Hendriksen, Dennis;
- Franke, Lude;
- Swertz, Morris A.
Publication type:
Article
Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics.
Published in:
BMC Research Notes, 2010, v. 3, p. 1, doi. 10.1186/1756-0500-3-16
By:
- Gruenberger, Michael;
- Alberts, Rudi;
- Smedley, Damian;
- Swertz, Morris;
- Schofield, Paul;
- Schughart, Klaus
Publication type:
Article
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Published in:
BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-016-0167-8
By:
- Rump, Patrick;
- Jazayeri, Omid;
- van Dijk-Bos, Krista K.;
- Johansson, Lennart F.;
- van Essen, Anthonie J.;
- Verheij, Johanna B. G. M.;
- Veenstra-Knol, Hermine E.;
- Redeker, Egbert J. W.;
- Mannens, Marcel M. A. M.;
- Swertz, Morris A.;
- Alizadeh, Behrooz Z.;
- van Ravenswaaij-Arts, Conny M. A.;
- Sinke, Richard J.;
- Sikkema-Raddatz, Birgit
Publication type:
Article
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.
Published in:
Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02558-5
By:
- dos Santos Vieira, Bruna;
- Bernabé, César H.;
- Zhang, Shuxin;
- Abaza, Haitham;
- Benis, Nirupama;
- Cámara, Alberto;
- Cornet, Ronald;
- Le Cornec, Clémence M. A.;
- ’t Hoen, Peter A. C.;
- Schaefer, Franz;
- van der Velde, K. Joeri;
- Swertz, Morris A.;
- Wilkinson, Mark D.;
- Jacobsen, Annika;
- Roos, Marco
Publication type:
Article
Deconvolution of bulk blood eQTL effects into immune cell subpopulations.
Published in:
BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-03576-5
By:
- Aguirre-Gamboa, Raúl;
- de Klein, Niek;
- di Tommaso, Jennifer;
- Claringbould, Annique;
- van der Wijst, Monique GP;
- de Vries, Dylan;
- Brugge, Harm;
- Oelen, Roy;
- Võsa, Urmo;
- Zorro, Maria M.;
- Chu, Xiaojin;
- Bakker, Olivier B.;
- Borek, Zuzanna;
- Ricaño-Ponce, Isis;
- Deelen, Patrick;
- Xu, Cheng-Jiang;
- Swertz, Morris;
- Jonkers, Iris;
- Withoff, Sebo;
- Joosten, Irma
Publication type:
Article
Gut microbiota composition and functional changes in inflammatory bowel disease and irritable bowel syndrome.
Published in:
Science Translational Medicine, 2018, v. 10, n. 472, p. N.PAG, doi. 10.1126/scitranslmed.aap8914
By:
- Vich Vila, Arnau;
- Imhann, Floris;
- Collij, Valerie;
- Jankipersadsing, Soesma A.;
- Gurry, Thomas;
- Mujagic, Zlatan;
- Kurilshikov, Alexander;
- Bonder, Marc Jan;
- Jiang, Xiaofang;
- Tigchelaar, Ettje F.;
- Dekens, Jackie;
- Peters, Vera;
- Voskuil, Michiel D.;
- Visschedijk, Marijn C.;
- van Dullemen, Hendrik M.;
- Keszthelyi, Daniel;
- Swertz, Morris A.;
- Franke, Lude;
- Alberts, Rudi;
- Festen, Eleonora A. M.
Publication type:
Article
Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data.
Published in:
Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02897-x
By:
- Li, Shuang;
- Schmid, Katharina T.;
- de Vries, Dylan H.;
- Korshevniuk, Maryna;
- Losert, Corinna;
- Oelen, Roy;
- van Blokland, Irene V.;
- Groot, Hilde E.;
- Swertz, Morris A.;
- van der Harst, Pim;
- Westra, Harm-Jan;
- van der Wijst, Monique G.P.;
- Heinig, Matthias;
- Franke, Lude
Publication type:
Article
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Published in:
Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
By:
- Duarri, Anna;
- Jezierska, Justyna;
- Fokkens, Michiel;
- Meijer, Michel;
- Schelhaas, Helenius J.;
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Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
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Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.
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Human Molecular Genetics, 2014, v. 23, n. 9, p. 2481, doi. 10.1093/hmg/ddt619
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Habitual dietary intake of IBD patients differs from population controls: a case–control study.
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European Journal of Nutrition, 2021, v. 60, n. 1, p. 345, doi. 10.1007/s00394-020-02250-z
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reGenotyper: Detecting mislabeled samples in genetic data.
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Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.
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Ten quick tips for building FAIR workflows.
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Molecular Genetics Information System (MOLGENIS): alternatives in developing local experimental genomics databases.
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Bioinformatics, 2004, v. 20, n. 13, p. 2075, doi. 10.1093/bioinformatics/bth206
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GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
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Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-016-1141-7
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IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis.
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2021
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- Xu, Cheng-Jian;
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Publication type:
journal article

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