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1. Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Author

Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Recherche en Génomique Humaine (CNRGH), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), FHU TRANSLAD (CHU de Dijon), and This study was funded by the French Ministry of Health as part of the 2015 Medico-Economic Research Program.

Subjects
Exome sequencing, MESH: France, MESH: Exome, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Cost analysis, Intellectual disability, Micro-costing, MESH: Intellectual Disability
Abstract

Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers.Methods: A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed.Results: The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID.Conclusion: This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES.Trial registration: ClinicalTrials.gov identifier NCT03287206 on September 19, 2017.

Published
2023
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2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

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]

Subjects
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

Published
2023
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3. Effects of eight neuropsychiatric copy number variants on human brain structure

Author

Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), 16p11.2 European Consortium, Simons Searchlight Consortium, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, School for Mental Health & Neuroscience, RS: MHeNs - R3 - Neuroscience, Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., and Wolken, A.

Subjects
0301 basic medicine, Simons Searchlight Consortium, Autism, 0302 clinical medicine, Gyrus, Gene duplication, 2.1 Biological and endogenous factors, Psychology, Copy-number variation, Aetiology, Genetics, Brain, Human brain, Magnetic Resonance Imaging, Psychiatry and Mental health, Mental Health, medicine.anatomical_structure, Schizophrenia, Neurological, Public Health and Health Services, RC321-571, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 16p11.2 European Consortium, Neurosciences. Biological psychiatry. Neuropsychiatry, Neuroimaging, Biology, Basic Behavioral and Social Science, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Behavioral and Social Science, mental disorders, medicine, Humans, 22Q11.2 DELETION SYNDROME, Clinical genetics, AUTISM, COMMON, Biological Psychiatry, Prevention, Human Genome, Brain morphometry, Neurosciences, medicine.disease, DUPLICATION, Brain Disorders, 030104 developmental biology, 030217 neurology & neurosurgery, Neuroscience
Abstract

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.

Published
2021
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5. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

Author

Marsaud, Céline, Rossignol, Sylvie, Tounian, Patrick, Netchine, Irène, Dubern, Béatrice, Abadie, V, Alcayde, S, Alembik, Y, Amiel, J, Baujat, G, Baumann-Morel, C, Bieth, E, Bertrand, AM, Bonneau, D, Bouhours Nouet, N, Brachet, C, Brioude, F, Brossier, JP, Boute, O, Cabrol, S, Carel, JC, Chabrol, B, Chivu, O, Christin, P, Collignon, P, Cordier, MP, Cormier Daire, V, Coubes, C, Coupe, B, Coutant, R, Craen, M, Crosnier, H, De Baufort, C, David, A, Delahaye, A, Delobel, B, Delrue, MA, Dieux Coeslier, A, Dommergues, MA, Doray, B, Duban-Bedu, B, Dufresne, S, Edery, P, Esteva, B, Farges, C, Fechtner, I, Francannet, C, Gilbert Dussardier, B, Gilbert, B, Ginglinger, E, Giullano, F, Goldenberg, A, Hamiel, O, Harbison, MD, Heinrichs, C, Heron, D, Holder, M, Houang, M, Genevieve, D, Gerard, M, Gonzales, M, Jantchou, P, Jonveaux, P, Jouk, PS, Kurtz, F, Le Bouc, Y, Le Merrer, M, Linglart, A, Leheup, B, Lebrun, M, Leger, J, Leinhart, A, Loeuille, GA, Manouvrier, S, Martin-Coignard, D, Mas, JC, Mathieu, M, Mercier, S, Mignot, B, Morice-Picard, F, Morin, G, Newfield, R, Odent, S, Oliver-Petit, I, Olivier-Faivre, L, Petriczko, E, Philip, N, Pienkowski, C, Pinson, L, Pinto, G, Polak, M, Quelin, C, Port-lis, M, Reiter, JC, Rio, M, Riviere, MF, Roquelaure, B, Salem, J, Simon, D, Soskin, S, Sznajer, Y, Tauber, M, Thauvin, C, Touraine, R, Teinturier, C, Toutain, A, Van Maldergem, L, Verloes, A, Vincent Delorme, C, Vu-Hong, T-A, and Weill, J

Published
2015
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6. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Author

Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, and Calvas, Patrick

Published
2014
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7. Identification by PCR of Fusarium culmorum stains producing large and small amounts of deoxynivalenol

Author

Bakan, B., Giraud-Deville, C., Pinson, L., Richard-Molard, D., Fournier, E., and Brygoo, Y.

Subjects
Fusarium -- Genetic aspects, Fusarium -- Physiological aspects, Biological sciences
Abstract

Research has been conducted on deoxynivalenol-producing Fusarium culmorum stains. The genetic relationship between the strains have been investigated via the use of analysis of gene and intergenetic region, and the results are reported.

Published
2002

14. Embryonic expression of the human MID 1 gene and its mutations in Opitz syndrome

Author

Meroni, G., Lyonnet, S., Vekemans, M., Attie. Bitach, T., Pinson, L., Auge, J., Audollent, S., Mattei, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., M Le Merrer, Amiel, J., and Munnich, A.

Subjects
Genes -- Analysis, Throat diseases -- Genetic aspects, Throat diseases -- Research, Genetic research, Health
Abstract

Opitz syndrome is a midline congenital malformation characterized by hypertelorism, hypospadias and oesophagolaryngotracheal defects, which leads to swallowing difficulties and hoarse voice. The role of MID 1 during embryonic development is investigated through expression studies.

Published
2004

16. Dermatological manifestations in Noonan syndrome

Author

Bessis, D., primary, Miquel, J., additional, Bourrat, E., additional, Chiaverini, C., additional, Morice‐Picard, F., additional, Abadie, C., additional, Manna, F., additional, Baumann, C., additional, Best, M., additional, Blanchet, P., additional, Bursztejn, A.‐C., additional, Capri, Y., additional, Coubes, C., additional, Giuliano, F., additional, Guillaumont, S., additional, Hadj‐Rabia, S., additional, Jacquemont, M.‐L., additional, Jeandel, C., additional, Lacombe, D., additional, Mallet, S., additional, Mazereeuw‐Hautier, J., additional, Molinari, N., additional, Pallure, V., additional, Pernet, C., additional, Philip, N., additional, Pinson, L., additional, Sarda, P., additional, Sigaudy, S., additional, Vial, Y., additional, Willems, M., additional, Genevievé, D., additional, Verloes, A., additional, and Cavé, H., additional

Published
2019
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17. 努南综合征的皮肤病表现

Author

Bessis, D., primary, Miquel, J., additional, Bourrat, E., additional, Chiaverini, C., additional, Morice‐Picard, F., additional, Abadie, C., additional, Manna, F., additional, Baumann, C., additional, Best, M., additional, Blanchet, P., additional, Bursztejn, A.‐C., additional, Capri, Y., additional, Coubes, C., additional, Giuliano, F., additional, Guillaumont, S., additional, Hadj‐Rabia, S., additional, Jacquemont, M.‐L., additional, Jeandel, C., additional, Lacombe, D., additional, Mallet, S., additional, Mazereeuw‐Hautier, J., additional, Molinari, N., additional, Pallure, V., additional, Pernet, C., additional, Philip, N., additional, Pinson, L., additional, Sarda, P., additional, Sigaudy, S., additional, Vial, Y., additional, Willems, M., additional, Genevievé, D., additional, Verloes, A., additional, and Cavé, H., additional

Published
2019
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18. Dermatological manifestations in cardiofaciocutaneous syndrome

Author

Bessis, D., primary, Morice‐Picard, F., additional, Bourrat, E., additional, Abadie, C., additional, Aouinti, S., additional, Baumann, C., additional, Best, M., additional, Bursztejn, A.‐C., additional, Capri, Y., additional, Chiaverini, C., additional, Coubes, C., additional, Giuliano, F., additional, Hadj‐Rabia, S., additional, Jacquemont, M.‐L., additional, Lacombe, D., additional, Lyonnet, S., additional, Mallet, S., additional, Mazereeuw‐Hautier, J., additional, Miquel, J., additional, Molinari, N., additional, Parfait, B., additional, Pernet, C., additional, Philip, N., additional, Pinson, L., additional, Pouvreau, N., additional, Vial, Y., additional, Sarda, P., additional, Sigaudy, S., additional, Verloes, A., additional, Cavé, H., additional, and Geneviéve, D., additional

Published
2019
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19. 心脸皮肤综合症中的皮肤表现

Author

Bessis, D., primary, Morice‐Picard, F., additional, Bourrat, E., additional, Abadie, C., additional, Aouinti, S., additional, Baumann, C., additional, Best, M., additional, Bursztejn, A.‐C., additional, Capri, Y., additional, Chiaverini, C., additional, Coubes, C., additional, Giuliano, F., additional, Hadj‐Rabia, S., additional, Jacquemont, M.‐L., additional, Lacombe, D., additional, Lyonnet, S., additional, Mallet, S., additional, Mazereeuw‐Hautier, J., additional, Miquel, J., additional, Molinari, N., additional, Parfait, B., additional, Pernet, C., additional, Philip, N., additional, Pinson, L., additional, Pouvreau, N., additional, Vial, Y., additional, Sarda, P., additional, Sigaudy, S., additional, Verloes, A., additional, Cavé, H., additional, and Geneviéve, D., additional

Published
2019
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20. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

Author

Bessis, D., primary, Morice‐Picard, F., additional, Bourrat, E., additional, Abadie, C., additional, Aouinti, S., additional, Baumann, C., additional, Best, M., additional, Bursztejn, A.‐C., additional, Capri, Y., additional, Chiaverini, C., additional, Coubes, C., additional, Giuliano, F., additional, Hadj‐Rabia, S., additional, Jacquemont, M.‐L., additional, Lacombe, D., additional, Lyonnet, S., additional, Mallet, S., additional, Mazereeuw‐Hautier, J., additional, Miquel, J., additional, Molinari, N., additional, Parfait, B., additional, Pernet, C., additional, Philip, N., additional, Pinson, L., additional, Pouvreau, N., additional, Vial, Y., additional, Sarda, P., additional, Sigaudy, S., additional, Verloes, A., additional, Cavé, H., additional, and Geneviève, D., additional

Published
2018
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22. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

Author

Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., Die-Smulders, C.E. de, Gardeitchik, T., Putten, W.K. van, Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P., MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Public Health, and Paediatric Genetics

Subjects
Male, Primary Immunodeficiency Diseases, Dwarfism, Osteochondrodysplasias, Fetus, Retinal Diseases, RNA, Small Nuclear, Humans, Abnormalities, Multiple, Child, Alleles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Fetal Growth Retardation, RNU4ATAC, Immunologic Deficiency Syndromes, Infant, Newborn, Infant, Taybi-Linder syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], corpus callosum agenesis, Phenotype, microcephalic osteodysplastic primordial dwarfisms, Child, Preschool, Mutation, Mental Retardation, X-Linked, Microcephaly, Spliceosomes, Female, spliceosome, Cardiomyopathies
Abstract

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.

Published
2016

23. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients.

Author

Best, M., Pernet, C., Bessis, D., Coubes, C., Pinson, L., Sarda, P., Geneviève, D., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., Lacombe, D., Lyonnet, S., Mallet, S., Mazereeuw‐Hautier, J., Miquel, J., Parfait, B., Philip, N., Sigaudy, S., Pouvreau, N., and Vial, Y.

Abstract

Summary: Background: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. Objectives: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype–genotype correlations. Methods: We performed a 4‐year, large, prospective, multicentric, collaborative dermatological and genetic study. Results: Forty‐five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype–genotype correlation was determined. Conclusions: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS. What's already known about this topic? Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological input.Dermatological findings remain essential to diagnose CFCS and to differentiate it from other RASopathies that it resembles phenotypically, specifically Noonan syndrome (NS) and Costello syndrome (CS). What does this study add? Scarcity or absence of eyebrows, association of ulerythema ophryogenes and palmoplantar keratoderma, diffuse keratosis pilaris and multiple melanocytic naevi appeared pertinent manifestations in assisting the positive diagnosis of CFCS and differentiating it from CS and NS.Oral acitretin could be highly beneficial for therapeutic management of PPHK.No significant dermatological phenotype–genotype correlation in the presence or absence of BRAF mutation could be determined. Linked Comment: Moss. Br J Dermatol 2019; 180:21. Plain language summary available online Respond to this article [ABSTRACT FROM AUTHOR]

Published
2019
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24. Essai de phase 2a du sirolimus dans les hypertrophies liées à PIK3CA (PROMISE) : données préliminaires de tolérance dans la cohorte française

Author

Luu, M., primary, Fleck, C., additional, Hadj-Rabia, S., additional, Martin, L., additional, Bessis, D., additional, Coubes, C., additional, Willems, M., additional, Pinson, L., additional, Vincent-Delorme, C., additional, Phan, A., additional, Baujat, G., additional, Amiel, J., additional, Loffroy, R., additional, Bardou, M., additional, Faivre, L., additional, and Vabres, P., additional

Published
2016
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25. Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

Author

Becker-Heck, A, primary, Bizet, A, additional, Ryan, R, additional, Krug, P, additional, Filhol, E, additional, Linghu, B, additional, Oakeley, E, additional, Serluca, F, additional, Legendre, F, additional, Dörner, N, additional, Lasbennes, MC, additional, Duca, J, additional, Yang, F, additional, Damask, A, additional, Klickstein, L, additional, Labow, M, additional, Schebesta, M, additional, Bouwmeester, T, additional, Valette, H, additional, Pinson, L, additional, Goubaux, B, additional, Dubot, P, additional, Salomon, R, additional, Antignac, C, additional, Gubler, M, additional, Jeanpierre, C, additional, Chibout, S, additional, Bole-Feysot, C, additional, Nitschké, P, additional, Benmerah, A, additional, Szustakowski, JD, additional, Sailer, AW, additional, Saunier, S, additional, and Saint-Mezard, P, additional

Published
2015
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26. Lexical richness, routines, and topic initiation in a speaker with mid to late Alzheimer's

Author

Davis, B., Russell-Pinson, L., Moore, L., Shenk, D., Greene, R., and Nold, G.

Subjects
Health, Seniors
Abstract

Conversation with cognitively impaired speakers seldom elicits lengthy, rich, easily standardized text. Brunet's Index, which allows the examination of lexical richness in spontaneous speech, is one of a set of measures that Bucks, Singh, Cuerden & Wilcox claim to discriminate between early-Alzheimer's and normally-aging speakers. To see if lexical richness would let us monitor and assess the retention of communicative skills with mid- to late-Alzheimer's speakers, we used Brunet's Index to score a 6-month's sample of conversations from our Alzheimer's Corpus. Lexical richness did not diminish over time; instead, it varied significantly with the presence or absence of conversational routines (p

Published
2002

27. Manifestations dermatologiques des rasopathies : étude observationnelle prospective multicentrique de 85 patients

Author

Pernet, C., primary, Bourrat, E., additional, Miquel, J., additional, Abadie, C., additional, Amedro, P., additional, Baumann, C., additional, Blanchet, P., additional, Chiaverini, C., additional, Coubes, C., additional, Geneviève, D., additional, Guillaumont, S., additional, Hadj-Rabia, S., additional, Hesse, S., additional, Jeandel, C., additional, Mallet, S., additional, Mazereeuw-Hautier, J., additional, Morice-Picard, F., additional, Philip, N., additional, Pinson, L., additional, Sarda, P., additional, Sigaudy, S., additional, Willems, M., additional, Cavé, H., additional, and Bessis, D., additional

Published
2014
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28. Fusarium mycotoxins in isogenic and Bt maize varieties grown in different geographic areas in France

Author

Pinson, L., Plancke, M.P., Richard-Forget, F., FLEURAT-LESSARD, Francis, Unité sur les insectes des denrées stockées, Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], 2. Zero hunger, [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

Four maize varieties collected in four sites in France in 2000, with and without the character of resistance to insect borers (Bt character), were compared for Fusarium spp. contamination and mycotoxin production in kernels (trichothecenes, fumonisins, zearalenone). For three of the considered varieties, lower Fusarium contamination and mycotoxin content were observed on Bt hybrid maize than on the corresponding isogenic variety. Fumonisin concentrations ranged from 9.5 ppb to 307 ppb for Bt varieties, and from Bt hybrid.

Published
2003
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32. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Author

Chassaing, N., primary, Causse, A., additional, Vigouroux, A., additional, Delahaye, A., additional, Alessandri, J.‐L., additional, Boespflug‐Tanguy, O., additional, Boute‐Benejean, O., additional, Dollfus, H., additional, Duban‐Bedu, B., additional, Gilbert‐Dussardier, B., additional, Giuliano, F., additional, Gonzales, M., additional, Holder‐Espinasse, M., additional, Isidor, B., additional, Jacquemont, M.‐L., additional, Lacombe, D., additional, Martin‐Coignard, D., additional, Mathieu‐Dramard, M., additional, Odent, S., additional, Picone, O., additional, Pinson, L., additional, Quelin, C., additional, Sigaudy, S., additional, Toutain, A., additional, Thauvin‐Robinet, C., additional, Kaplan, Josseline, additional, and Calvas, Patrick, additional

Published
2013
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33. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

Author

El Chehadeh, S., primary, Aral, B., additional, Gigot, N., additional, Thauvin-Robinet, C., additional, Donzel, A., additional, Delrue, M.-A., additional, Lacombe, D., additional, David, A., additional, Burglen, L., additional, Philip, N., additional, Moncla, A., additional, Cormier-Daire, V., additional, Rio, M., additional, Edery, P., additional, Verloes, A., additional, Bonneau, D., additional, Afenjar, A., additional, Jacquette, A., additional, Heron, D., additional, Sarda, P., additional, Pinson, L., additional, Doray, B., additional, Vigneron, J., additional, Leheup, B., additional, Frances-Guidet, A.-M., additional, Dienne, G., additional, Holder, M., additional, Masurel-Paulet, A., additional, Huet, F., additional, Teyssier, J.-R., additional, and Faivre, L., additional

Published
2010
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35. On-orbit Systems Identification of Flexible Spacecraft Technol., 1984, Pt. 2 p 465-481

Author

Taylor, L and Pinson, L. D

Subjects
Launch Vehicles And Space Vehicles
Abstract

Future spacecraft include configurations which are too flexible to be adequately tested prior to flight and which will require on-orbit systems identification to ensure safe operation of the flight control system. The structural dynamics model will evolve and its accuracy will improve in stages as ground tests of full-scale components and replica-scale models are performed. State Space Modeling and Conditional Maximum Likelihood Parameter Estimation methodology can provide the formal probability-based framework for the process of upgrading a model as additional test results are obtained. Although the number of unknown parameters can be reduced by the use of canonical forms for the stability matrix, the number of unknown model parameters quickly becomes unmanageable unless advantage is taken of the relationship of a much fewer number of global model parameters. Distributed parameter systems or partial differential equation models are one way to take advantage of such global parameters to reduce the number of unknown model parameters.

Published
1985

36. Application of singular value decomposition to structural dynamics systems with constraints

Author

Juang, J.-N and Pinson, L. D

Subjects
Structural Mechanics
Abstract

Singular value decomposition is used to construct a coordinate transformation for a linear dynamic system subject to linear, homogeneous constraint equations. The method is compared with two commonly used methods, namely classical Gaussian elimination and Walton-Steeves approach. Although the classical method requires fewer numerical operations, the singular value decomposition method is more accurate and convenient in eliminating the dependent coordinates. Numerical examples are presented to demonstrate the application of the method.

Published
1985

37. Large space structures ground and flight progress

Author

Pinson, L. D

Subjects
Spacecraft Design, Testing And Performance
Abstract

Unprecedented challenges arise in connection with the design and certification of space systems which are too large to be transported into orbit fully assembled. Special situations arising in the case of such systems make it necessary to rely much more on analysis than in past programs. The present investigation is concerned with the status of some research activities oriented primarily to the improvement of analysis capabilities through coordinated ground and flight testing. Aspects of system identification are explored, taking into account an eigensystem realization algorithm, and the Hoop-Column Antenna concept. Attention is also given to a suitable method for analyzing the Hoop-Column antenna structure, a deployment analysis, certification issues for large space structures, a generic space station model, and the use of actuators.

Published
1984

38. Large space structures raise testing challenges

Author

Hanks, B. R and Pinson, L. D

Subjects
Spacecraft Design, Testing And Performance
Abstract

The testing approaches and techniques necessary for combined ground and space verification for large space structures (LSS) to be deployed and assembled in space are explored. The size of LSS precludes full ground tests, thereby requiring assemblies, components, and their interactions to be examined on orbit. Ground tests involving drop tests and zero-g aircraft flights can be performed with scale models, but need computational compensation to eliminate gravitational and torque effects that do not occur in space. Structural rigidity also varies from ground to space, and can partly be accounted for in ground tests by using cable supports, although numerical modelling must remove the effects of the cables' presence. Long-term funding is recommended for on-orbit tests of components in order to build a data base for later testing and actual construction of LSS.

Published
1983

39. NASA/USAF research in structural dynamics

Author

Pinson, L. D and Amos, A. K

Subjects
Launch Vehicles And Space Vehicles
Abstract

Research in the structural dynamics of large space structures is discussed. The problems of structural response are emphasized. Dynamic modeling, structural members, finite element techniques, axial loads, and vibration tests are among the topics discussed.

Published
1983

40. Space Technology Experiment Platform (STEP). A Shuttle-borne support facility for structures, structural dynamics, and control technology flight experiments

Author

Harris, J. E and Pinson, L. D

Subjects
Launch Vehicles And Space Vehicles
Abstract

The Space Transportation System (STS) is used for technology experiments in space. The Space Technology Experiment Platform (STEP) is a Shuttle-borne experiment support facility for use by structures, structural dynamics, and controls technology flight experiments. STEP represents a key element in the commitment to STS utilization. The STEP concept and definition process is discussed, and the results obtained to date on the configuration and function capability are summarized, and preliminary schedule information is presented.

Published
1983

41. Modeling, Analysis, and Optimization Issues for Large Space Structures

Author

Pinson, L. D, Amos, A. K, and Venkayya, V. B

Subjects
Launch Vehicles And Space Vehicles
Abstract

Topics concerning the modeling, analysis, and optimization of large space structures are discussed including structure-control interaction, structural and structural dynamics modeling, thermal analysis, testing, and design.

Published
1983

42. Static calibration for measurement of loads in wind tunnel tests on Shuttle surface tiles

Author

Rummler, D. R and Pinson, L. D

Subjects
Spacecraft Design, Testing And Performance
Abstract

A description is given of the procedures used for the static calibrations of the Coe (1981) sensor array to determine normal force, pitching moment, and rolling moment from the ensemble of sensor outputs. The use of independent data to confirm the validity of the calibration is also described. Two methods are used in calibrating the Coe sensors. In the first, calibration loads and readings are arranged in matrix form and are assumed to be related in a linear fashion. In the second, each Coe sensor reading is regarded as a sum of contributions from each of the calibration loads. It is shown that the Coe load sensors, in conjunction with either of two data analysis methods, can be used to determine the forces and moments experienced by a Shuttle TPS tile.

Published
1982

43. Analytical and experimental vibration studies of a 1/8-scale shuttle orbiter

Author

Pinson, L. D

Subjects
Structural Mechanics
Abstract

Natural frequencies and mode shapes for four symmetric vibration modes and four antisymmetric modes are compared with predictions based on NASTRAN finite-element analyses. Initial predictions gave poor agreement with test data; an extensive investigation revealed that the major factors influencing agreement were out-of-plane imperfections in fuselage panels and a soft fin-fuselage connection. Computations with a more refined analysis indicated satisfactory frequency predictions for all modes studied, within 11 percent of experimental values.

Published
1975

44. Space payload dynamic testing

Author

Pinson, L. D and Stephens, D. G

Subjects
Spacecraft Design, Testing And Performance
Abstract

More cost effective methods for insuring payload reliability are required to efficiently utilize the projected payload capacity of future space systems such as the Space Shuttle. Studies are needed to better define the vibration environment of space vehicles to develop improved and more routine methods of testing and to develop better dynamic protection systems. Such improvements in environment definition, testing, and isolation will lead to less stringent design specification, improved payload reliability, fewer and more realistic qualification and flight acceptance tests. This paper presents current payload test philosophies, effectiveness of testing, and research needed to achieve more cost effective payload reliability for future applications.

Published
1974

45. Some space shuttle tile/strain-isolator-pad sinusoidal vibration tests

Author

Miserentino, R, Pinson, L. D, and Leadbetter, S. A

Subjects
Structural Mechanics
Abstract

Vibration tests were performed on the tile/strain-isolator-pad system used as thermal protection for the space shuttle orbiter. Experimental data on normal and in-plane vibration response and damping properties are presented. Three test specimens exhibited shear type motion during failures that occurred in the tile near the tile/strain-isolator-pad bond-line. A dynamic instability is described which has large in-plane motion at a frequency one-half that of the nominal driving frequency. Analysis shows that this phenomenon is a parametric response.

Published
1980

46. Some results from 1/8-scale Shuttle model vibration studies

Author

Pinson, L. D and Leadbetter, S. A

Subjects
Spacecraft Design, Testing And Performance
Abstract

Highlights of experimental and analytical vibration studies of a 1/8-scale structural dynamic model of the Space Shuttle are presented. The Space Shuttle is a launch vehicle with elements assembled in an asymmetric manner. Responses of the assembled vehicle are characterized by directional coupling and high modal density at low frequencies. Effects of distortion of structure near element interfaces are shown to be significant and predictable with highly detailed mathematical models. Acquisition of modal data by single-point random excitation is shown to be viable for these complex structures. Element studies reveal large liquid-structure interactions and a wide range of structural damping.

Published
1978

47. Optical data processing study

Author

Pinson, L. J

Subjects
Earth Resources And Remote Sensing
Abstract

An onboard coherent optical data processing system was designed to handle large information content of imagery at high speeds, reduce redundancy in picture transmission, and detect specific image features. Theoretically derived Fourier transform characteristics for simple but representative two dimensional images served as a basis for predicting expected features of actual target images. Fourier transformation and spatial filtering of coherent optical images was accomplished theoretically and in the laboratory. The effect of various parameters such as optical aperature, incidence angles, the transparency assumption, the thin lens approximation on resolution, and performance of the system are predicted and tested.

Published
1976

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