Authors: Hennocq, Quentin, Garcelon, Nicolas, Bongibault, Thomas, Bouygues, Thomas, Marlin, Sandrine, Amiel, Jeanne, Boutaud, Lucile, Douillet, Maxime, Lyonnet, Stanislas, Pingault, Vèronique, Picard, Arnaud, Rio, Marlèe, Attie‐Bitach, Tania, Khonsari, Roman H., Roux, Nathalie
Contributors: Agence Nationale de la Recherche, National University of Singapore
Superior Title: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
Subject Terms: Genetics (clinical), Obstetrics and Gynecology
Availability: https://doi.org/10.1002/pd.6577
Authors: Faviez, CaroleAff1, Aff2, Aff13, IDs12911024025388_cor1, Chen, XiaoyiAff1, Aff2, Aff3, Garcelon, NicolasAff1, Aff2, Aff3, Zaidan, Mohamad, Billot, Katy, Petzold, FriederikeAff5, Aff6, Faour, Hassan, Douillet, Maxime, Rozet, Jean-Michel, Cormier-Daire, ValérieAff8, Aff9, Attié-Bitach, Tania, Lyonnet, StanislasAff9, Aff11, Saunier, Sophie, Burgun, AnitaAff1, Aff2, Aff12
Superior Title: BMC Medical Informatics and Decision Making. 24(1)
Authors: Hennocq, QuentinAff1, Aff2, Aff3, Aff4, Aff5, Aff6, IDs41598024526913_cor1, Willems, Marjolaine, Amiel, JeanneAff1, Aff4, Aff8, Arpin, Stéphanie, Attie-Bitach, TaniaAff1, Aff4, Aff8, Bongibault, ThomasAff1, Aff5, Bouygues, ThomasAff1, Aff5, Cormier-Daire, ValérieAff1, Aff4, Aff8, Corre, PierreAff10, Aff11, Dieterich, Klaus, Douillet, Maxime, Feydy, Jean, Galliani, EvaAff2, Aff3, Aff4, Giuliano, Fabienne, Lyonnet, StanislasAff1, Aff4, Aff8, Picard, ArnaudAff2, Aff3, Aff4, Porntaveetus, Thantrira, Rio, MarlèneAff1, Aff4, Aff8, Rouxel, Flavien, Shotelersuk, Vorasuk, Toutain, Annick, Yauy, Kevin, Geneviève, David, Khonsari, Roman H.Aff1, Aff2, Aff3, Aff4, Aff5, Garcelon, Nicolas
Superior Title: Scientific Reports. 14(1)
Authors: Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie
Superior Title: In Kidney International August 2023 104(2):378-387
Authors: Quennelle, Sophie, Douillet, Maxime, Friedlander, Lisa, Boyer, Olivia, Neuraz, Antoine, Burgun, Anita, Garcelon, Nicolas
Contributors: Health data- and model- driven Knowledge Acquisition (HeKA), Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Université Paris Cité (UPCité), Service de cardiologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Service de néphrologie pédiatrique CHU Necker, Service d'informatique médicale et biostatistiques CHU Necker
Superior Title: Caring is Sharing – Exploiting the Value in Data for Health and Innovation ; https://hal.science/hal-04191423 ; Caring is Sharing – Exploiting the Value in Data for Health and Innovation, 302, 2023, Studies in Health Technology and Informatics, ⟨10.3233/SHTI230112⟩
Subject Terms: Electronic Health Records, Clinical Research Forms, Clinical Data Reuse, Observational Study, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL]
Relation: info:eu-repo/semantics/altIdentifier/arxiv/2308.16537; info:eu-repo/semantics/altIdentifier/pmid/37203656; hal-04191423; https://hal.science/hal-04191423; https://hal.science/hal-04191423/document; https://hal.science/hal-04191423/file/SmartDataExtractor-Final-MIE-Submission.pdf; ARXIV: 2308.16537; PUBMED: 37203656
Authors: Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, INSERM–Necker Hospital NPH collaborative group
Superior Title: Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; INSERM–Necker Hospital NPH collaborative group (2023). The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney International, 104(2):378-387.
Subject Terms: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health
File Description: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/237443/1/1_s2.0_S0085253823003770_main.pdf; info:pmid/37230223; urn:issn:0085-2538
Authors: Hennocq, Quentin, Bongibault, Thomas, Bizière, Matthieu, Delassus, Ombline, Douillet, Maxime, Cormier‐Daire, Valérie, Amiel, Jeanne, Lyonnet, Stanislas, Marlin, Sandrine, Rio, Marlène, Picard, Arnaud, Khonsari, Roman Hossein, Garcelon, Nicolas
Contributors: Agence Nationale de la Recherche
Superior Title: American Journal of Medical Genetics Part A ; volume 191, issue 5, page 1210-1221 ; ISSN 1552-4825 1552-4833
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1002/ajmg.a.63126
Authors: Hennocq, Quentin, Bongibault, Thomas, Marlin, Sandrine, Amiel, Jeanne, Attie-Bitach, Tania, Baujat, Geneviève, Boutaud, Lucile, Carpentier, Georges, Corre, Pierre, Denoyelle, Françoise, Djate Delbrah, François, Douillet, Maxime, Galliani, Eva, Kamolvisit, Wuttichart, Lyonnet, Stanislas, Milea, Dan, Pingault, Véronique, Porntaveetus, Thantrira, Touzet-Roumazeille, Sandrine, Willems, Marjolaine, Picard, Arnaud, Rio, Marlène, Garcelon, Nicolas, Khonsari, Roman H.
Superior Title: Front Pediatr
Subject Terms: Pediatrics
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469912/; http://dx.doi.org/10.3389/fped.2023.1171277
Authors: Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Billot, Katy, Lelarge, Marc, Bonald, Thomas, Garcia, Hugo, Martin, Yoann, Benoit, Vincent, Vincent, Marc, Faour, Hassan, Douillet, Maxime, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita
Superior Title: In Journal of Biomedical Informatics December 2019 100
Authors: Vincent, Marc, Douillet, Maxime, Lerner, Ivan, Neuraz, Antoine, Burgun, Anita, Garcelon, Nicolas
Contributors: Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Superior Title: MEDINFO 2021: One World, One Health – Global Partnership for Digital Innovation ; https://hal.science/hal-03880500 ; MEDINFO 2021: One World, One Health – Global Partnership for Digital Innovation, IOS Press, 2022, Studies in Health Technology and Informatics, ⟨10.3233/SHTI220079⟩
Subject Terms: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: hal-03880500; https://hal.science/hal-03880500
Authors: Hennocq, Quentin, Bongibault, Thomas, Bizière, Matthieu, Delassus, Ombline, Douillet, Maxime, Cormier-Daire, Valérie, Amiel, Jeanne, Lyonnet, Stanislas, Marlin, Sandrine, Rio, Marlène, Picard, Arnaud, Khonsari, Roman Hossein, Garcelon, Nicolas
Superior Title: SSRN Electronic Journal ; ISSN 1556-5068
Subject Terms: General Earth and Planetary Sciences, General Environmental Science
Availability: https://doi.org/10.2139/ssrn.4102684
Authors: Vincent, Marc, Douillet, Maxime, Lerner, Ivan, Neuraz, Antoine, Burgun, Anita, Garcelon, Nicolas
Superior Title: Medinfo; 2021, Vol. 290, p282-286, 5p