379 results on '"Holinski-Feder, E."'
Search Results
2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]
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Exome reanalysis ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine] ,Developmental disorder ,lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] ,Biology and Life Sciences ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,ClinVar ,Rare diseases ,All institutes and research themes of the Radboud University Medical Center ,Medicine and Health Sciences ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Multidisciplinary, general & others [D99] [Human health sciences] ,Exome reanalysi ,Genetics (clinical) - Abstract
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí
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- 2023
3. Investigation of Optical Genome Mapping Diagnostic Capabilities as a Potential Routine Clinical Test.
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Koehler, U., Barseghyan, H., Eisenreich, D., Lindt, E., Sendelbach, K., Erdmann, H., Neuhann, T., Holinski-Feder, E., and Abicht, A.
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GENE mapping ,GENETIC testing ,PERIODICAL publishing ,OPTOELECTRONICS - Abstract
This article, published in the journal Neuropediatrics, explores the use of optical genome mapping (OGM) as a potential routine clinical test for diagnosing genetic conditions. The authors conducted a validation study using 72 samples with known diagnoses and found that OGM was 97% concordant with previous diagnoses. They also tested 20 undiagnosed cases and identified potentially pathogenic deletions and insertions in disease-causing genes. Overall, the study demonstrates that OGM can detect large structural variants, has high concordance with other cytogenetic methods, and can provide diagnoses in cases where other tests are uninformative. [Extracted from the article]
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- 2023
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4. Detection of 5q-Spinal Muscular Atrophy by Short- and Long-Read Sequencing.
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Abicht, A., Kleinle, S., Scholz, V., Benet-Pages, A., Wohlfrom, T., Scharf, F., Erdmann, H., Holinski-Feder, E., and Neuhann, T.
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MUSCULAR atrophy ,HUMAN genetic variation ,SPINAL muscular atrophy ,SINGLE nucleotide polymorphisms ,GENETIC variation - Abstract
This article, published in the journal Neuropediatrics, discusses the importance of early diagnosis of 5q spinal muscular atrophy (5q-SMA) and the challenges in identifying specific genetic variations associated with this condition. The study presents a bioinformatics workflow that combines short-read sequencing and long-read sequencing to detect homozygous SMN1 deletions and SMN1 single nucleotide variations (SNVs). The authors diagnosed 14 patients with 5q-SMA based on different genetic variations in the SMN1 gene. The article concludes that the integration of these sequencing approaches can enhance the accuracy and comprehensiveness of genomic analysis in clinical settings, leading to a better understanding of genetic variations and their impact on human health. [Extracted from the article]
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- 2023
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5. Impact of Liquid Biopsy Preanalytics on cfDNA Fragmentation Analyses
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Hallermayr, A., Keßler, T., König, C., Gisinger, S., Steinke-Lange, V., Holinski-Feder, E., Aznar-Peralta, I., Serrano, M., and Garrido-Navas, C.
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- 2023
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6. Impact of Reference Materials for Analytical Performance Evaluation of Liquid Biopsy NGS Assays
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Hallermayr, A., Keßler, T., Liesfeld, B., Bernstein, S., Steinke-Lange, V., Neuhann, T., Pickl, J., and Holinski-Feder, E.
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- 2023
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7. Diagnostischer Stellenwert der pränatalen Exomanalyse bei fetalen Ultraschallauffälligkeiten
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Neuhann, T, additional, Schiesser, M, additional, Meschede, D, additional, Ibisler, A, additional, Huber, A, additional, Zikulnig, E, additional, Rabenstein, H, additional, Laner, A, additional, Kleinle, S, additional, Holinski-Feder, E, additional, and Abicht, A, additional
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- 2022
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8. Präimplantationsdiagnostik – quo vadis?
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Koehler, U, additional, Harasim, T, additional, Schön, U, additional, Neuhann, T, additional, Diebold, I, additional, Abicht, A, additional, and Holinski-Feder, E, additional
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- 2022
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9. Klinische Nachbeobachtung von atypischen chromosomalen Aberrationen detektiert durch NIPT
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Harasim, T, additional, Neuhann, T, additional, Behnecke, A, additional, Stampfer, M, additional, Holinski-Feder, E, additional, and Abicht, A, additional
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- 2022
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10. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
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Braunisch, M.C., Gallwitz, H., Abicht, A., Diebold, I., Holinski‐Feder, E., Van Maldergem, L., Lammens, M., Kovács‐Nagy, R., Alhaddad, B., Strom, T.M., Meitinger, T., Senderek, J., Rudnik‐Schöneborn, S., and Haack, T.B.
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- 2018
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11. Die Sequenzvarianten Arg72Pro des Tumorsuppressorgens p53 und Arg462Gln des Prostatakarzinom-Suszeptibilitätsgens RNASEL haben einen additiven Effekt auf das Erkrankungsalter von HNPCC-Patienten
- Author
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Deutsches HNPCC-Konsortium, Krüger, Stefan, Engel, C., Bier, A., Silber, A. -S., Görgens, H., Mangold, E., Pagenstecher, C., Holinski-Feder, E., von Knebel Doeberitz, M., Royer-Pokora, B., Dechant, S., Pox, C., Rahner, N., Müller, A., Schackert, H. K., Steinau, H. -U., editor, Schackert, H. K., editor, and Bauer, H., editor
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- 2007
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12. Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)
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Schule R., Timmann D., Erasmus C. E., Reichbauer J., Wayand M., Baets J., Balicza P., Chinnery P., Durr A., Haack T., Hengel H., Horvath R., Houlden H., Kamsteeg E. -J., Kamsteeg C., Lohmann K., Macaya A., Marce-Grau A., Maver A., Molnar J., Munchau A., Peterlin B., Riess O., Schols L., Stevanin G., Synofzik M., Timmerman V., van de Warrenburg B., van Os N., Vandrovcova J., Wilke C., Bevot A., Zuchner S., Beltran S., Laurie S., Matalonga L., Graessner H., Zurek B., Ellwanger K., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., Hoischen A., 't Hoen P. A. C., Vissers L. E. L. M., Gilissen C., Steyaert W., Sablauskas K., de Voer R. M., Janssen E., de Boer E., Steehouwer M., Yaldiz B., Kleefstra T., Brookes A. J., Veal C., Gibson S., Wadsley M., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Topf A., Straub V., Bettolo C. M., Specht S., Clayton-Smith J., Banka S., Alexander E., Jackson A., Faivre L., Thauvin C., Vitobello A., Denomme-Pichon A. -S., Duffourd Y., Tisserant E., Bruel A. -L., Peyron C., Pelissier A., Gut I. G., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Garcia C., Fernandez-Callejo M., Hernandez C., Pico D., Paramonov I., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Olry A., Lagorce D., Havrylenko S., Izem K., Rigour F., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Nelson I., Yaou R. B., Metay C., Eymard B., Cohen E., Atalaia A., Stojkovic T., Macek M., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Havlovicova M., Kremlik V., Parkinson H., Keane T., Spalding D., Senf A., Robinson P., Danis D., Robert G., Costa A., Patch C., Hanna M., Reilly M., Muntoni F., Zaharieva I., Sarkozy A., de Jonghe P., Nigro V., Banfi S., Torella A., Musacchia F., Piluso G., Ferlini A., Selvatici R., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Velde J. K., van der Vries G., Neerincx P. B., Roelofs-Prins D., Kohler S., Metcalfe A., Verloes A., Drunat S., Rooryck C., Trimouille A., Castello R., Morleo M., Pinelli M., Varavallo A., De la Paz M. P., Sanchez E. B., Martin E. L., Delgado B. M., de la Rosa F. J. A. G., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Renieri A., Benetti E., Molnar M. J., Herzog R., Pauly M., Osorio A. N., de Benito D. N., Thompson R., Polavarapu K., Beeson D., Cossins J., Cruz P. M. R., Hackman P., Johari M., Savarese M., Udd B., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Schrock E., Rump A., Schule, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., Baets, J., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Horvath, R., Houlden, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Stevanin, G., Synofzik, M., Timmerman, V., van de Warrenburg, B., van Os, N., Vandrovcova, J., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Jackson, A., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Yaou, R. B., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Patch, C., Hanna, M., Reilly, M., Muntoni, F., Zaharieva, I., Sarkozy, A., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., de la Rosa, F. J. A. G., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Molnar, M. J., Herzog, R., Pauly, M., Osorio, A. N., de Benito, D. N., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Cruz, P. M. R., Hackman, P., Johari, M., Savarese, M., Udd, B., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., and Rump, A.
- Abstract
In the original publication of the article, consortium author lists were missing in the article. The details are given below
- Published
- 2021
13. Diagnostic Value of Exome Analysis in Patients with Mental Retardation
- Author
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Neuhann, T., additional, Holinski-Feder, E., additional, and Abicht, A., additional
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- 2021
- Full Text
- View/download PDF
14. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
- Author
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te Paske, I.B.A.W., Garcia-Pelaez, J., Sommer, A.K., Matalonga, L., Starzynska, T., Jakubowska, A., Valle, L., Capella, G., Aretz, S., Holinski-Feder, E., Steinke-Lange, V., Laner, A., Schröck, E., Rump, A., Ligtenberg, M., Hoischen, A., Geverink, N., Evans, D.G., Tischkowitz, M., Laurie, S., van der Post, R.S., Lubinski, J., Oliveira, C., Hoogerbrugge, N., de Voer, R.M., Sommer, Anna K [0000-0001-6850-9290], Starzynska, Teresa [0000-0001-5573-2397], Jakubowska, Anna [0000-0002-5650-0501], Hoogerbrugge, Nicoline [0000-0003-2393-8141], de Voer, Richarda M [0000-0002-8222-0343], and Apollo - University of Cambridge Repository
- Subjects
0301 basic medicine ,Adult ,Somatic cell ,Class I Phosphatidylinositol 3-Kinases ,Mutation, Missense ,Stomach Neoplasms/genetics ,Brief Communication ,Whole Exome Sequencing ,Germline ,CDH1 ,03 medical and health sciences ,0302 clinical medicine ,Stomach Neoplasms ,Exome Sequencing ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Genetics ,medicine ,Cancer genomics ,Missense mutation ,Humans ,Young adult ,Genetics (clinical) ,Class I Phosphatidylinositol 3-Kinases/genetics ,biology ,business.industry ,Mosaicism ,Cancer ,medicine.disease ,Phenotype ,3. Good health ,030104 developmental biology ,030220 oncology & carcinogenesis ,biology.protein ,Female ,Hereditary diffuse gastric cancer ,business ,Gastric cancer - Abstract
Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1 and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing genes. Under the collaborative environment of the SOLVE-RD consortium, re-analysis of whole-exome sequencing data from unresolved gastric cancer cases (n = 83) identified a mosaic missense variant in PIK3CA in a 25-year-old female with diffuse gastric cancer (DGC) without familial history for cancer. The variant, c.3140A>G p.(His1047Arg), a known cancer-related somatic hotspot, was present at a low variant allele frequency (18%) in leukocyte-derived DNA. Somatic variants in PIK3CA are usually associated with overgrowth, a phenotype that was not observed in this patient. This report highlights mosaicism as a potential, and understudied, mechanism in the etiology of DGC. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. The research work at i3S/Ipatimup is supported by the European Regional Development Fund (ERDF) through COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT/ Ministério da Ciência, Tecnologia e Inovação in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274) and Project Ref. POCI-01-0145-FEDER-030164. Data was reanalysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies.
- Published
- 2021
15. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)
- Author
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Dominguez-Valentin M., Sampson J. R., Seppala T. T., ten Broeke S. W., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Knebel Doeberitz M., Loeffler M., Rahner N., Schackert H. K., Steinke-Lange V., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Wadt K., Therkildsen C., Okkels H., Ketabi Z., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Frayling I. M., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Nielsen M., Moller P., Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., and Moller, P.
- Abstract
The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.
- Published
- 2020
16. GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS
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Pelaez J, Monteiro R, Lobo S, Sousa L, Pinheiro H, Castedo S, Garrido L, Teixeira M, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Desseignes C, Florence C, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Ranzani G, Genuardi M, Silveira C, Silva I, Krajc M, Blatnik A, Novacovik S, Patino-Garcia A, Soto J, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald R, Woodward E, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Egas C, Tejada M, Dahan K, Feret D, Hoogerbrugge N, Tischkowitz M, and Oliveira C
- Published
- 2021
17. Familiäre adenomatöse Polyposis und andere Polyposissyndrome
- Author
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Holinski-Feder, E. and Morak, M.
- Published
- 2010
- Full Text
- View/download PDF
18. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum
- Author
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Dominguez-Valentin M., Sampson J. R., Moller P., Seppala T. T., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., Nielsen M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Valle A. D., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., von Knebel Doeberitz M., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., ten Broeke S. W., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Jensen L. H., Madsen M. B., Kroldrup L., Nilbert M., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Vidal J. B., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Dominguez-Valentin, M., Sampson, J. R., Moller, P., Seppala, T. T., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., Nielsen, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., ten Broeke, S. W., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Jensen, L. H., Madsen, M. B., Kroldrup, L., Nilbert, M., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Vidal, J. B., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., and Mecklin, J. -P.
- Subjects
Male ,Adult ,Oncology ,Cancer Research ,2019-20 coronavirus outbreak ,medicine.medical_specialty ,sarcoma ,Databases, Factual ,Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Sarcoma/diagnosis ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,Aged ,business.industry ,Sarcoma ,Syndrome ,Middle Aged ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Lynch syndrome ,MSH2 ,030220 oncology & carcinogenesis ,Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ,Female ,030211 gastroenterology & hepatology ,business - Published
- 2020
19. Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom
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Finke, C., Horváth, R., Holinski-Feder, E., and Ploner, C.J.
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- 2009
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20. Mentale Retardierung: Ein Überblick
- Author
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Holinski-Feder, E.
- Published
- 2008
- Full Text
- View/download PDF
21. Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer
- Author
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Mueller-Koch, Y., Vogelsang, H., Kopp, R., Lohse, P., Keller, G., Aust, D., Muders, M., Gross, M., Daum, J., Schiemann, U., Grabowski, M., Scholz, M., Kerker, B., Becker, I., Henke, G., and Holinski-Feder, E.
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Gene mutations -- Analysis ,Colorectal cancer -- Genetic aspects ,Health - Published
- 2005
22. Barth-Syndrom: X-chromosomal-rezessiv vererbte dilatative Kardiomyopathie
- Author
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Rost, I., Duroux, A., Toniolo, D., Holinski-Feder, E., and Kozlik-Feldmann, R.
- Published
- 2000
- Full Text
- View/download PDF
23. Markedly different course of Friedreich’s ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
- Author
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Klopstock, T., Chahrokh-Zadeh, S., Holinski-Feder, E., Meindl, A., Gasser, T., Pongratz, D., and Müller-Felber, W.
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- 1999
- Full Text
- View/download PDF
24. MUTYH-associated polyposis – variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations
- Author
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Morak, M, Laner, A, Bacher, U, Keiling, C, and Holinski-Feder, E
- Published
- 2010
- Full Text
- View/download PDF
25. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia
- Author
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Brakensiek, K, Frye-Boukhriss, H, Mälzer, M, Abramowicz, M, Bahr, M J, von Beckerath, N, Bergmann, C, Caselitz, M, Holinski-Feder, E, Muschke, P, Oexle, K, Strobl-Wildemann, G, Wolff, G, El-Harith, E A, and Stuhrmann, M
- Published
- 2008
26. Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
- Author
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Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Erasmus School of Health Policy & Management, Pediatrics, and Legius, Eric
- Subjects
0301 basic medicine ,Cancer Research ,Pediatrics ,Databases, Factual ,Colorectal cancer ,International Cooperation ,030105 genetics & heredity ,Medical Oncology ,GUIDELINES ,COLORECTAL-CANCER ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,0302 clinical medicine ,Epidemiology ,Medicine and Health Sciences ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Registries ,Genetics (clinical) ,Syndrome ,Quality Improvement ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,Rare diseases ,Europe ,Oncology ,030220 oncology & carcinogenesis ,Clinical Competence ,Hereditary diffuse gastric cancer ,medicine.medical_specialty ,Short Communication ,European Reference Network ,behavioral disciplines and activities ,Time-to-Treatment ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,Cross border health care ,SDG 3 - Good Health and Well-being ,Genetic ,Neoplastic Syndromes, Hereditary ,Genetics ,medicine ,Genetic predisposition ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Neurofibromatosis ,Information Services ,business.industry ,Information Dissemination ,Remote Consultation ,Cancer ,medicine.disease ,PREVENTION ,Hereditary cancer ,Li–Fraumeni syndrome ,business ,Rare disease - Abstract
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer. ispartof: Familial Cancer vol:18 issue:2 pages:281-284 ispartof: location:Netherlands status: published
- Published
- 2019
27. High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
- Author
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Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K-M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P, and Friedl, W
- Published
- 2007
28. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies
- Author
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Engel, C., Vasen, H.F., Seppala, T., Aretz, S., Bigirwamungu-Bargeman, M., Boer, S.Y. de, Bucksch, K., Buttner, R., Holinski-Feder, E., Holzapfel, S., Huneburg, R., Jacobs, M.A.J.M., Jarvinen, H., Kloor, M., Doeberitz, M.V., Koornstra, J.J., Kouwen, M. van, Langers, A.M., Meeberg, P.C. van de, Morak, M., Moslein, G., Nagengast, F.M., Pylvanainen, K., Rahner, N., Renkonen-Sinisalo, L., Sanduleanu, S., Schackert, H.K., Schmiegel, W., Schulmann, K., Steinke-Lange, V., Strassburg, C.P., Vecht, J., Verhulst, M.L., Cappel, W.D.T.N., Zachariae, S., Mecklin, J.P., Loeffler, M., German HNPCC Consortium, Dutch Lynch Syndrome, Finnish Lynch Syndrome Registry, Gastroenterology and hepatology, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
- Subjects
Male ,Colorectal cancer ,Colonoscopy ,FAMILIES ,0302 clinical medicine ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Stage (cooking) ,Tumor ,medicine.diagnostic_test ,MISMATCH REPAIR DEFICIENCY ,Incidence ,Incidence (epidemiology) ,Gastroenterology ,Middle Aged ,Lynch syndrome ,3. Good health ,PREVALENCE ,POLYPOSIS ,030220 oncology & carcinogenesis ,CARCINOMAS ,Female ,030211 gastroenterology & hepatology ,Hereditary Colon Cancer ,Colorectal Neoplasms ,Adult ,medicine.medical_specialty ,HNPCC ,Genetic Risk Factor ,suolistosyövät ,perinnöllinen alttius ,INTERVAL CANCERS ,03 medical and health sciences ,All institutes and research themes of the Radboud University Medical Center ,Internal medicine ,ADENOMAS ,medicine ,Humans ,Lynchin oireyhtymä ,neoplasms ,paksusuolisyöpä ,Neoplasm Staging ,Proportional Hazards Models ,seulontatutkimus ,Hepatology ,Proportional hazards model ,business.industry ,MUTATIONS ,MORTALITY ,Interval ,ta3122 ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,Confidence interval ,digestive system diseases ,business ,Index Colonoscopy - Abstract
BACKGROUND & AIMS: Patients with Lynch syndrome are at high risk for developing colorectal cancer (CRC). Regular colonoscopic surveillance is recommended, but there is no international consensus on the appropriate interval. We investigated whether shorter intervals are associated with lower CRC incidence and detection at earlier stages by comparing the surveillance policies in Germany, which evaluates patients by colonoscopy annually, in the Netherlands (patients evaluated at 1-2-year intervals), and Finland (patients evaluated at 2-3-year intervals). METHODS: We collected data from 16,327 colonoscopic examinations (conducted from 1984 through 2015) of 2747 patients with Lynch syndrome (pathogenic variants in the MLH1, MSH2, or MSH6 genes) from the German HNPCC Consortium, the Dutch Lynch Syndrome Registry, and the Finnish Lynch Syndrome Registry. Our analysis included 23,309 person-years of cumulative observation time. Time from the index colonoscopy to incident CRC or adenoma was analyzed using the Kaplan-Meier method; groups were compared using the log-rank test. We performed multivariable Cox regression analyses to identify factors associated with CRC risk (diagnosis of CRC before the index colonoscopy, sex, mutation, age, and presence of adenoma at the index colonoscopy). RESULTS: The 10-year cumulative CRC incidence ranged from 4.1% to 18.4% in patients with low-and high-risk profiles, respectively, and varied with age, sex, mutation, and prior detection of CRC or adenoma. Observed colonoscopy intervals were largely in accordance with the country-specific recommendations. We found no significant differences in cumulative CRC incidence or CRC stage at detection among countries. There was no significant association between CRC stage and[GRAPHICS]time since last colonoscopy. CONCLUSIONS: We did not find a significant reduction in CRC incidence or stage of detection in Germany (annual colonoscopic surveillance) than in countries with longer surveillance intervals (the Netherlands, with 1-2-year intervals, and Finland, with 2-3-year intervals). Overall, we did not find a significant association of the interval with CRC risk, although age, sex, mutation, and prior neoplasia were used to individually modify colonoscopy intervals. Studies are needed to develop and validate risk-adapted surveillance strategies and to identify patients who benefit from shorter surveillance intervals.
- Published
- 2018
29. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
- Author
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Horváth, R, Abicht, A, Holinski-Feder, E, Laner, A, Gempel, K, Prokisch, H, Lochmüller, H, Klopstock, T, and Jaksch, M
- Published
- 2006
30. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC)
- Author
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Krüger, S, Bier, A, Engel, C, Mangold, E, Pagenstecher, C, von Knebel Doeberitz, M, Holinski-Feder, E, Moeslein, G, Schulmann, K, Plaschke, J, Rüschoff, J, and Schackert, H K
- Published
- 2005
31. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
- Author
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Kamm, C., Healy, D. G., Quinn, N. P., Wüllner, U., Moller, J. C., Schols, L., Geser, F., Burk, K., Børglum, A. D., Pellecchia, M. T., Tolosa, E., del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A. J., Short, J., Giunti, P., Holinski-Feder, E., Illig, T., Wichmann, H. E., Wenning, G. K., Wood, N. W., and Gasser, T.
- Published
- 2005
32. Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients
- Author
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Keller, G, Vogelsang, H, Becker, I, Plaschke, S, Ott, K, Suriano, G, Mateus, A R, Seruca, R, Biedermann, K, Huntsman, D, Döring, C, Holinski-Feder, E, Neutzling, A, Siewert, J R, and Höfler, H
- Published
- 2004
33. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype
- Author
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Bauer, P, Laccone, F, Rolfs, A, Wüllner, U, Bösch, S, Peters, H, Liebscher, S, Schaible, M, Epplen, J T, Weber, B H F, Holinski-Feder, E, Weirich-Schwaiger, H, Morris-Rosendahl, D J, Andrich, J, and Riess, O
- Published
- 2004
34. A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
- Author
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Abidi, F E, Holinski-Feder, E, Rittinger, O, Kooy, F, Lubs, H A, Stevenson, R E, and Schwartz, C E
- Published
- 2002
35. Aktuelle Empfehlungen des „Deutschen Konsortiums Familiärer Darmkrebs“ zur Überwachung der kolonischen und extrakolonischen Tumorrisiken bei Patienten mit Lynch-Syndrom
- Author
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Hüneburg, R, additional, Aretz, S, additional, Büttner, R, additional, Daum, S, additional, Engel, C, additional, Fechner, G, additional, Habermann, J, additional, Heling, D, additional, Hoffmann, K, additional, Holinski-Feder, E, additional, Kloor, M, additional, Knebel-Döberitz, M von, additional, Löffler, M, additional, Möslein, G, additional, Redler, S, additional, Rieß, O, additional, Schlegelberger, B, additional, Schmiegel, W, additional, Seufferlein, T, additional, Steinke-Lange, V, additional, Tecklenburg, J, additional, Vangala, D, additional, Vilz, T, additional, Weitz, J, additional, Wieacker, P, additional, Wiedemann, B, additional, Strassburg, CP, additional, and Nattermann, J, additional
- Published
- 2019
- Full Text
- View/download PDF
36. Gezielte Quantifizierung der Methylierung mittels NGS zum FSHD Nachweis
- Author
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Bulst, S, additional, Scharf, F, additional, Benet-Pagès, A, additional, Reilich, P, additional, Jakubiczka, S, additional, Zenker, M, additional, Walter, MC, additional, Holinski-Feder, E, additional, and Abicht, A, additional
- Published
- 2019
- Full Text
- View/download PDF
37. Mitochondrial and Nuclear Disease (Mito-aND-Panel): Combined Sequencing of Mitochondrial and Nuclear DNA by a Cost Effective and Sensitive NGS-based Method
- Author
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Abicht, A, additional, Scharf, F, additional, Kleinle, S, additional, Schön, U, additional, Holinski-Feder, E, additional, Horvath, R, additional, Benet-Pagès, A, additional, and Diebold, I, additional
- Published
- 2019
- Full Text
- View/download PDF
38. Clopidogrel and proton pump inhibitor (PPI) interaction: separate intake and a non-omeprazole PPI the solution?
- Author
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Kenngott S, Olze R, Kollmer M, Bottheim H, Laner A, Holinski-Feder E, and Gross M
- Subjects
Proton Pump Inhibitors ,Drug Interactions ,Clopidogrel ,Omeprazole ,Rabeprazole ,Medicine - Abstract
Abstract Background Dual therapy with aspirin and clopidogrel increases the risk of gastrointestinal bleeding. Therefore, co-therapy with a proton pump inhibitor (PPI) is recommended by most guidelines. However, there are warnings against combining PPIs with clopidogrel because of their interactions with cytochrome P450 isoenzyme 2C19 (CYP2C19). Methods The effects of the combined or separate intake of 20 mg of omeprazole and 75 mg of clopidogrel on the clopidogrel-induced inhibition of platelet aggregation were measured in four healthy subjects whose CYP2C19 exon sequences were determined. The effects of co-therapy with 10 mg of rabeprazole were also examined. Results Two subjects showed the wild-type CYP2C19 sequence. The concurrent intake of omeprazole had no effect on clopidogrel-induced platelet inhibition in these subjects. Two subjects were heterozygous for the *2 allele, with predicted reduced CYP2C19 activity. One of them was a clopidogrel non-responder. In the second heterozygous subject, omeprazole co-therapy reduced the clopidogrel anti-platelet effect when taken simultaneously or separately. However, the simultaneous intake of rabeprazole did not reduce the clopidogrel effect. Conclusion The clopidogrel-PPI interaction does not seem to be a PPI class effect. Rabeprazole did not affect the clopidogrel effect in a subject with a clear omeprazole-clopidogrel interaction. The separate intake of PPI and clopidogrel may not be sufficient to prevent their interaction.
- Published
- 2010
- Full Text
- View/download PDF
39. Elucidating the molecular basis of MSH2-deficienttumors by combined germline and somatic analysis
- Author
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Vargas-Parra G, Gonzalez-Acosta M, Thompson B, Gomez C, Fernandez A, Damaso E, Pons T, Morak M, del Valle J, Iglesias S, Velasco A, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadalo L, Lazaro C, Navarro M, Pineda M, and Capella G
- Subjects
Lynch syndrome ,mismatch repair-deficiency ,Lynch-like ,next-generation sequencing ,methylation - Abstract
In a proportion of patients presenting mismatch repair (MMR)-deficient tumors, no germline MMR mutations are identified, the socalled Lynch-like syndrome (LLS). Recently, MMR-deficient tumors have been associated with germline mutations in POLE and MUTYH or double somatic MMR events. Our aim was to elucidate the molecular basis of MSH2-deficient LS-suspected cases using a comprehensive analysis of colorectal cancer (CRC)-associated genes at germline and somatic level. Fifty-eight probands harboring MSH2-deficient tumors were included. Germline mutational analysis of MSH2 (including EPCAM deletions) and MSH6 was performed. Pathogenicity of MSH2 variants was assessed by RNA analysis and multifactorial likelihood calculations. MSH2 cDNA and methylation of MSH2 and MSH6 promoters were studied. Matched blood and tumor DNA were analyzed using a customized next generation sequencing panel. Thirty-five individuals were carriers of pathogenic or probably pathogenic variants in MSH2 and EPCAM. Five patients harbored 4 different MSH2 variants of unknown significance (VUS) and one had 2 novel MSH6 promoter VUS. Pathogenicity assessment allowed the reclassification of the 4 MSH2 VUS and 6 probably pathogenic variants as pathogenic mutations, enabling a total of 40 LS diagnostics. Predicted pathogenic germline variants in BUB1, SETD2, FAN1 and MUTYH were identified in 5 cases. Three patients had double somatic hits in MSH2 or MSH6, and another 2 had somatic alterations in other MMR genes and/or proofreading polymerases. In conclusion, our comprehensive strategy combining germline and somatic mutational status of CRC-associated genes by means of a subexome panel allows the elucidation of up to 86% of MSH2-deficient suspected LS tumors.
- Published
- 2017
40. Hereditäres diffuses Magenkarzinom – erste deutsche Registerstudie
- Author
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Hüneburg, R, additional, Marwitz, T, additional, Heling, D, additional, Pantelis, D, additional, Spier, I, additional, Steinke-Lange, V, additional, Holinski-Feder, E, additional, Kalff, J, additional, Aretz, S, additional, Nattermann, J, additional, and Strassburg, CP, additional
- Published
- 2018
- Full Text
- View/download PDF
41. Neue Versorgungsstrukturen für Patienten mit erblichen Darmkrebserkrankungen
- Author
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Steinke-Lange, V, additional and Holinski-Feder, E, additional
- Published
- 2018
- Full Text
- View/download PDF
42. Molekulare Autopsie nach plötzlichem Herztod
- Author
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Diebold, I., primary, Pickl, J., additional, Schön, U., additional, Kleinle, S., additional, Laner, A., additional, Benet-Pages, A., additional, Abicht, A., additional, Skopp, G., additional, Musshoff, F., additional, and Holinski-Feder, E., additional
- Published
- 2018
- Full Text
- View/download PDF
43. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
- Author
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Braunisch, M.C., primary, Gallwitz, H., additional, Abicht, A., additional, Diebold, I., additional, Holinski-Feder, E., additional, Van Maldergem, L., additional, Lammens, M., additional, Kovács-Nagy, R., additional, Alhaddad, B., additional, Strom, T.M., additional, Meitinger, T., additional, Senderek, J., additional, Rudnik-Schöneborn, S., additional, and Haack, T.B., additional
- Published
- 2017
- Full Text
- View/download PDF
44. Trinucleotide repeat expansion in SCA 17/TBP in white patients with Huntington's disease-like phenotype
- Author
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Bauer, P., Laccone, F., Rolfs, A., Wullner, U., Bosch, S., Peters, H., Liebscher, S., Scheible, M., Epplen, J.T., Weber, B.H.F., Holinski-Feder, E., Weirich-Schwaiger, H., Morris-Rosendahl, D.J., Andrich, J., and Riess, O.
- Subjects
Health - Abstract
J Med Genet 2004;41:230-232. doi: 10.1136/jmg.2003.015602 Huntington's disease (HD) is characterized by movement abnormalities and psychiatric symptoms. Prominent features include choreiform movements, dysarthria, ataxia, depression, dementia, and personality changes. The [...]
- Published
- 2004
45. Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
- Author
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Velayos-Baeza, A, Holinski-Feder, E, Nietzl, B, Bader, B, Critchley, EMR, Monaco, AP, Danek, A, and Walker, RH
- Abstract
Objective: Todetermine the molecular nature of the neurological disease in the seminal family reported by Critchley et al inthe 1960s, characterized by a hyperkineticmovement disorder and the appearance of acanthocytosis on peripheral blood smear. Theeponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. Design: DNA analysis. Setting: Molecular biology research laboratories. Participants: First- and second-degree relatives of the original Critchley et al proband from Kentucky. Main Outcome Measures: Mutations in the VPS13A gene. Results: A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. Haplotype reconstruction suggested that this mutation was homozygous in the proband. Conclusion: These findings strongly support the diagnosis of chorea-acanthocytosis as the disorder described in the original report.
- Published
- 2016
46. Deciphering the Colon Cancer Genes-Report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010
- Author
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Kohonen-Corish, M.R.J., Macrae, F., Genuardi, M., Aretz, S., Bapat, B., Bernstein, I.T., Burn, J., Cotton, R.G.H., Dunnen, J.T. den, Frebourg, T., Greenblatt, M.S., Hofstra, R., Holinski-Feder, E., Lappalainen, I., Lindblom, A., Maglott, D., Moller, P., Morreau, H., Moslein, G., Sijmons, R., Spurdle, A.B., Tavtigian, S., Tops, C.M.J., Weber, T.K., Wind, N. de, Woods, M.O., Contributors InSiGHT-HVP Workshop, Faculteit Medische Wetenschappen/UMCG, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
- Subjects
MISMATCH-REPAIR GENES ,COLORECTAL-CANCER ,SEQUENCE VARIANTS ,CLASSIFICATION ,MUTATIONS ,DATABASE ,MLH1 ,Colorectal cancer ,Human Variome Project ,Library science ,HNPCC ,Biology ,Settore MED/03 - GENETICA MEDICA ,Data submission ,Bioinformatics ,Genetics ,medicine ,Pilot program ,cancer ,Pathogenicity ,Genetics (clinical) ,colon ,Cancer ,medicine.disease ,Tumor Pathology ,variant ,HVP ,InSiGHT - Abstract
The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program. Hum Mutat 32: 491-494, 2011. (C) 2011 Wiley-Liss, Inc.
- Published
- 2011
47. CNV Detection from Targeted Next-Generation Panel Sequencing Data Increases the Diagnostic Yield in Patients with Neuromuscular Diseases
- Author
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Bulst, S., additional, Nissen, A., additional, Rapp, C., additional, Graf, J., additional, Mayer, V., additional, Benet-Pagès, A., additional, Reilich, P., additional, Walter, M., additional, Holinski-Feder, E., additional, and Abicht, A., additional
- Published
- 2017
- Full Text
- View/download PDF
48. A Novel mutation in TM4SF2 causes MRX58
- Author
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Abidi, F.E., Holinski-Feder, E., Turner, G., Kooy, F., Lubs, H.A., Stevenson, R.E., and Schwartz, C.E.
- Subjects
Human genetics -- Research ,Genetic disorders -- Research ,Gene mutations -- Analysis ,Biological sciences - Published
- 2001
49. FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?
- Author
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Nolin, S.L., Rousseau, F., Houck, G.E., Gargano, A.D., Biancalana, V. Hinkle, L., Hjalgrim, H., Holinski-Feder, E., Kooy, F., Longshore, J., MacPherson, J., Mandel, J., Matthijs, G., Sherman, S., Steinbach, P., Vaisanen, M.L., von Koskull, H., and Brown, W.T.
- Subjects
Genetic research -- Analysis ,Human genetics -- Research ,Genetic disorders -- Research ,Biological sciences - Published
- 2000
50. Central Vocal Cord Paresis as Complication of a FBXL4-Associated Mitochondrial Depletions Syndrome
- Author
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Decker, C., primary, Teig, N., additional, Abicht, A., additional, Holinski-Feder, E., additional, Köhler, C., additional, Dettmers, S., additional, Rossler, L., additional, Thiels, Ch., additional, and Lücke, T., additional
- Published
- 2016
- Full Text
- View/download PDF
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