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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

학술저널

issue: European Journal of Human Genetics. 32(2):190-199
Author: Husson, Thomas^{Aff1, Aff2}
Lecoquierre, François
Nicolas, Gaël
Richard, Anne-Claire
Afenjar, Alexandra
Audebert-Bellanger, Séverine
Badens, Catherine
Bilan, Frédéric
Bizaoui, Varoona
Boland, Anne
Bonnet-Dupeyron, Marie-Noëlle
Brischoux-Boucher, Elise
Bonnet, Céline^{Aff12, Aff13}
Bournez, Marie
Boute, Odile
Brunelle, Perrine
Caumes, Roseline
Charles, Perrine
Chassaing, Nicolas
Chatron, Nicolas^{Aff19, Aff20}
Cogné, Benjamin^{Aff21, Aff22}
Colin, Estelle
Cormier-Daire, Valérie^{Aff24, Aff25}
Dard, Rodolphe
Dauriat, Benjamin
Delanne, Julian^{Aff28, Aff29}
Deleuze, Jean-François
Demurger, Florence
Denommé-Pichon, Anne-Sophie^{Aff29, Aff31}
Depienne, Christel
Dieux, Anne
Dubourg, Christèle^{Aff33, Aff34}
Edery, Patrick^{Aff19, Aff35}
El Chehadeh, Salima^{Aff36, Aff37, Aff38}
Faivre, Laurence^{Aff28, Aff29}
Fergelot, Patricia
Fradin, Mélanie
Garde, Aurore^{Aff28, Aff29}
Geneviève, David^{Aff41, Aff42}
Gilbert-Dussardier, Brigitte
Goizet, Cyril^{Aff44, Aff45}
Goldenberg, Alice
Gouy, Evan^{Aff19, Aff46}
Guerrot, Anne-Marie
Guimier, Anne
Harzalla, Inès
Héron, Delphine
Isidor, Bertrand^{Aff21, Aff22}
Lacombe, Didier
Le Guillou Horn, Xavier^{Aff50, Aff51}
Keren, Boris
Kuechler, Alma
Lacaze, Elodie
Lavillaureix, Alinoë
Lehalle, Daphné
Lesca, Gaëtan
Lespinasse, James
Levy, Jonathan
Lyonnet, Stanislas^{Aff57, Aff58}
Morel, Godeliève
Jean-Marçais, Nolwenn
Marlin, Sandrine
Marsili, Luisa
Mignot, Cyril
Nambot, Sophie
Nizon, Mathilde^{Aff21, Aff22}
Olaso, Robert
Pasquier, Laurent
Perrin, Laurine
Petit, Florence^{Aff15, Aff16}
Pingault, Veronique^{Aff61, Aff62}
Piton, Amélie
Prieur, Fabienne
Putoux, Audrey^{Aff19, Aff35}
Planes, Marc
Odent, Sylvie
Quélin, Chloé
Quemener-Redon, Sylvia^{Aff5, Aff64, Aff65}
Rama, Mélanie
Rio, Marlène
Rossi, Massimiliano^{Aff19, Aff35}
Schaefer, Elise
Rondeau, Sophie
Saugier-Veber, Pascale
Smol, Thomas^{Aff16, Aff66}
Sigaudy, Sabine
Touraine, Renaud
Mau-Them, Frederic Tran^{Aff29, Aff31}
Trimouille, Aurélien^{Aff69, Aff70}
Van Gils, Julien
Vanlerberghe, Clémence
Vantalon, Valérie
Vera, Gabriella
Vincent, Marie^{Aff21, Aff22}
Ziegler, Alban
Guillin, Olivier
Campion, Dominique
Charbonnier, Camille^{Aff72, IDs4143102301474x_cor98}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

학술저널

issue: Human Genetics. 142(6):773-783
Author: Lecoquierre, François^{Aff1, IDs00439023025531_cor1}
Quenez, Olivier
Fourneaux, Steeve
Coutant, Sophie
Vezain, Myriam
Rolain, Marion
Drouot, Nathalie
Boland, Anne
Olaso, Robert
Meyer, Vincent
Deleuze, Jean-François
Dabbagh, Dana
Gilles, Isabelle
Gayet, Claire
Saugier-Veber, Pascale
Goldenberg, Alice
Guerrot, Anne-Marie
Nicolas, Gaël^{Aff1, IDs00439023025531_cor18}
DB Label: Database : Springer Nature Journals

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC 원문복사신청 - RISS

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

학술저널

issue: In Genetics in Medicine January 2024 26(1)
Author: Sabbagh, Quentin
Haghshenas, Sadegheh
Piard, Juliette
Trouvé, Chloé
Amiel, Jeanne
Attié-Bitach, Tania
Balci, Tugce
Barat-Houari, Mouna
Belonis, Alyce
Boute, Odile
Brightman, Diana S.
Bruel, Ange-Line
Caraffi, Stefano Giuseppe
Chatron, Nicolas
Collet, Corinne
Dufour, William
Edery, Patrick
Fong, Chin-To
Fusco, Carlo
Gatinois, Vincent
Gouy, Evan
Guerrot, Anne-Marie
Heide, Solveig
Joshi, Aakash
Karp, Natalya
Keren, Boris
Lesieur-Sebellin, Marion
Levy, Jonathan
Levy, Michael A.
Lozano, Claire
Lyonnet, Stanislas
Margot, Henri
Marzin, Pauline
McConkey, Haley
Michaud, Vincent
Nicolas, Gaël
Nizard, Mevyn
Paulet, Alix
Peluso, Francesca
Pernin, Vincent
Perrin, Laurence
Philippe, Christophe
Prasad, Chitra
Prasad, Madhavi
Relator, Raissa
Rio, Marlène
Rondeau, Sophie
Ruault, Valentin
Ruiz-Pallares, Nathalie
Sanchez, Elodie
Shears, Debbie
Siu, Victoria Mok
Sorlin, Arthur
Tedder, Matthew
Tharreau, Mylène
Mau-Them, Frédéric Tran
van der Laan, Liselot
Van Gils, Julien
Verloes, Alain
Whalen, Sandra
Willems, Marjolaine
Yauy, Kévin
Zuntini, Roberta
Kerkhof, Jennifer
Sadikovic, Bekim
Geneviève, David
DB Label: Database : ScienceDirect

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

학술저널

issue: In Kidney International August 2023 104(2):378-387
Author: 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
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Tory, Kalman
Boyer, Olivia
Burgun, Anita
Servais, Aude
Salomon, Remi
Benmerah, Alexandre
Heidet, Laurence
Garcelon, Nicolas
Antignac, Corinne
Zaidan, Mohamad
Saunier, Sophie
DB Label: Database : ScienceDirect

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

학술저널

issue: In Genetics in Medicine April 2023 25(4)
Author: Abbott, Kristin M.
Banka, Siddharth
de Boer, Elke
Ciolfi, Andrea
Clayton-Smith, Jill
Dallapiccola, Bruno
Denommé-Pichon, Anne-Sophie
Faivre, Laurence
Gilissen, Christian
Haack, Tobias B.
Havlovicova, Marketa
Hoischen, Alexander
Jackson, Adam
Kerstjens, Mieke
Kleefstra, Tjitske
Martín, Estrella López
Macek, Milan, Jr.
Matalonga, Leslie
Maystadt, Isabelle
Morleo, Manuela
Nigro, Vicenzo
Pinelli, Michele
Pizzi, Simone
Posada, Manuel
Radio, Francesca C.
Renieri, Alessandra
Riess, Olaf
Rooryck, Caroline
Ryba, Lukas
Agathe, Jean-Madeleine de Sainte
Santen, Gijs W.E.
Schwarz, Martin
Tartaglia, Marco
Thauvin, Christel
Torella, Annalaura
Trimouille, Aurélien
Verloes, Alain
Vissers, Lisenka
Vitobello, Antonio
Votypka, Pavel
Zguro, Kristina
Boer, Elke de
Cohen, Enzo
Danis, Daniel
Gao, Fei
Horvath, Rita
Johari, Mridul
Johanson, Lennart
Li, Shuang
Morsy, Heba
Nelson, Isabelle
Paramonov, Ida
te Paske, Iris B.A.W.
Robinson, Peter
Savarese, Marco
Steyaert, Wouter
Töpf, Ana
van der Velde, Joeri K.
Vandrovcova, Jana
Graessner, Holm
Zurek, Birte
Ellwanger, Kornelia
Ossowski, Stephan
Demidov, German
Sturm, Marc
Schulze-Hentrich, Julia M.
Schüle, Rebecca
Xu, Jishu
Kessler, Christoph
Wayand, Melanie
Synofzik, Matthis
Wilke, Carlo
Traschütz, Andreas
Schöls, Ludger
Hengel, Holger
Lerche, Holger
Kegele, Josua
Heutink, Peter
Brunner, Han
Scheffer, Hans
Hoogerbrugge, Nicoline
‘t Hoen, Peter A.C.
Vissers, Lisenka E.L.M.
Sablauskas, Karolis
de Voer, Richarda M.
Kamsteeg, Erik-Jan
van de Warrenburg, Bart
van Os, Nienke
Paske, Iris te
Janssen, Erik
Steehouwer, Marloes
Yaldiz, Burcu
Brookes, Anthony J.
Veal, Colin
Gibson, Spencer
Maddi, Vatsalya
Mehtarizadeh, Mehdi
Riaz, Umar
Warren, Greg
Dizjikan, Farid Yavari
Shorter, Thomas
Straub, Volker
Bettolo, Chiara Marini
Manera, Jordi Diaz
Hambleton, Sophie
Engelhardt, Karin
Alexander, Elizabeth
Duffourd, Yannis
Bruel, Ange-Line
Peyron, Christine
Pélissier, Aurore
Beltran, Sergi
Gut, Ivo Glynne
Laurie, Steven
Piscia, Davide
Papakonstantinou, Anastasios
Bullich, Gemma
Corvo, Alberto
Fernandez-Callejo, Marcos
Hernández, Carles
Picó, Daniel
Lochmüller, Hanns
Gumus, Gulcin
Bros-Facer, Virginie
Rath, Ana
Hanauer, Marc
Lagorce, David
Hongnat, Oscar
Chahdil, Maroua
Lebreton, Emeline
Stevanin, Giovanni
Durr, Alexandra
Davoine, Claire-Sophie
Guillot-Noel, Léna
Heinzmann, Anna
Coarelli, Giulia
Bonne, Gisèle
Evangelista, Teresinha
Allamand, Valérie
Ben Yaou, Rabah
Metay, Corinne
Eymard, Bruno
Atalaia, Antonio
Stojkovic, Tanya
Turnovec, Marek
Thomasová, Dana
Kremliková, Radka Pourová
Franková, Vera
Havlovicová, Markéta
Lišková, Petra
Doležalová, Pavla
Parkinson, Helen
Keane, Thomas
Freeberg, Mallory
Thomas, Coline
Spalding, Dylan
Robert, Glenn
Costa, Alessia
Patch, Christine
Hanna, Mike
Houlden, Henry
Reilly, Mary
Efthymiou, Stephanie
Cali, Elisa
Magrinelli, Francesca
Sisodiya, Sanjay M.
Rohrer, Jonathan
Muntoni, Francesco
Zaharieva, Irina
Sarkozy, Anna
Timmerman, Vincent
Baets, Jonathan
de Vries, Geert
De Winter, Jonathan
Beijer, Danique
de Jonghe, Peter
Van de Vondel, Liedewei
De Ridder, Willem
Weckhuysen, Sarah
Nigro, Vincenzo
Mutarelli, Margherita
Varavallo, Alessandra
Banfi, Sandro
Musacchia, Francesco
Piluso, Giulio
Ferlini, Alessandra
Selvatici, Rita
Gualandi, Francesca
Bigoni, Stefania
Rossi, Rachele
Neri, Marcella
Aretz, Stefan
Spier, Isabel
Sommer, Anna Katharina
Peters, Sophia
Oliveira, Carla
Pelaez, Jose Garcia
Matos, Ana Rita
José, Celina São
Ferreira, Marta
Gullo, Irene
Fernandes, Susana
Garrido, Luzia
Ferreira, Pedro
Carneiro, Fátima
Swertz, Morris A.
Johansson, Lennart
van der Vries, Gerben
Neerincx, Pieter B.
Ruvolo, David
Kerstjens Frederikse, Wilhemina S.
Zonneveld-Huijssoon, Eveline
Roelofs-Prins, Dieuwke
van Gijn, Marielle
Köhler, Sebastian
Metcalfe, Alison
Drunat, Séverine
Heron, Delphine
Mignot, Cyril
Keren, Boris
Lacombe, Didier
Trimouille, Aurelien
Capella, Gabriel
Valle, Laura
Holinski-Feder, Elke
Laner, Andreas
Steinke-Lange, Verena
Cilio, Maria-Roberta
Carpancea, Evelina
Depondt, Chantal
Lederer, Damien
Sznajer, Yves
Duerinckx, Sarah
Mary, Sandrine
Macaya, Alfons
Cazurro-Gutiérrez, Ana
Pérez-Dueñas, Belén
Munell, Francina
Jarava, Clara Franco
Masó, Laura Batlle
Marcé-Grau, Anna
Colobran, Roger
Hackman, Peter
Udd, Bjarne
Hemelsoet, Dimitri
Dermaut, Bart
Schuermans, Nika
Poppe, Bruce
Verdin, Hannah
Osorio, Andrés Nascimento
Depienne, Christel
Roos, Andreas
Cordts, Isabell
Deschauer, Marcus
Striano, Pasquale
Zara, Federico
Riva, Antonella
Iacomino, Michele
Uva, Paolo
Scala, Marcello
Scudieri, Paolo
Başak, Ayşe Nazlı
Claeys, Kristl
Boztug, Kaan
Haimel, Matthias
W.E, Gijs
Ruivenkamp, Claudia A.L.
Natera de Benito, Daniel
Thompson, Rachel
Polavarapu, Kiran
Grimbacher, Bodo
Zaganas, Ioannis
Kokosali, Evgenia
Lambros, Mathioudakis
Evangeliou, Athanasios
Spilioti, Martha
Kapaki, Elisabeth
Bourbouli, Mara
Radio, Francesca Clementina
Balicza, Peter
Molnar, Maria Judit
De la Paz, Manuel Posada
Sánchez, Eva Bermejo
Delgado, Beatriz Martínez
Alonso García de la Rosa, F. Javier
Schröck, Evelin
Rump, Andreas
Mei, Davide
Vetro, Annalisa
Balestrini, Simona
Guerrini, Renzo
Chinnery, Patrick F.
Ratnaike, Thiloka
Schon, Katherine
Maver, Ales
Peterlin, Borut
Münchau, Alexander
Lohmann, Katja
Herzog, Rebecca
Pauly, Martje
May, Patrick
Beeson, David
Cossins, Judith
Furini, Simone
Fallerini, Chiara
Benetti, Elisa
Afenjar, Alexandra
Goldenberg, Alice
Masurel, Alice
Phan, Alice
Dieux-Coeslier, Anne
Fargeot, Anne
Guerrot, Anne-Marie
Toutain, Annick
Molin, Arnaud
Sorlin, Arthur
Putoux, Audrey
Jouret, Béatrice
Laudier, Béatrice
Demeer, Bénédicte
Doray, Bérénice
Bonniaud, Bertille
Isidor, Bertrand
Gilbert-Dussardier, Brigitte
Leheup, Bruno
Reversade, Bruno
Paul, Carle
Vincent-Delorme, Catherine
Neiva, Cecilia
Poirsier, Céline
Quélin, Chloé
Chiaverini, Christine
Coubes, Christine
Francannet, Christine
Colson, Cindy
Desplantes, Claire
Wells, Constance
Goizet, Cyril
Sanlaville, Damien
Amram, Daniel
Lehalle, Daphné
Geneviève, David
Gaillard, Dominique
Zivi, Einat
Sarrazin, Elisabeth
Steichen, Elisabeth
Schaefer, Élise
Lacaze, Elodie
Jacquemin, Emmanuel
Bongers, Ernie
Kilic, Esra
Colin, Estelle
Giuliano, Fabienne
Prieur, Fabienne
Laffargue, Fanny
Morice-Picard, Fanny
Petit, Florence
Cartault, François
Feillet, François
Baujat, Geneviève
Morin, Gilles
Diene, Gwenaëlle
Journel, Hubert
Perthus, Isabelle
Lespinasse, James
Alessandri, Jean-Luc
Amiel, Jeanne
Martinovic, Jelena
Delanne, Julian
Albuisson, Juliette
Lambert, Laëtitia
Perrin, Laurence
Ousager, Lilian Bomme
Van Maldergem, Lionel
Pinson, Lucile
Ruaud, Lyse
Samimi, Mahtab
Bournez, Marie
Bonnet-Dupeyron, Marie Noëlle
Vincent, Marie
Jacquemont, Marie-Line
Cordier-Alex, Marie-Pierre
Gérard-Blanluet, Marion
Willems, Marjolaine
Spodenkiewicz, Marta
Doco-Fenzy, Martine
Rossi, Massimiliano
Renaud, Mathilde
Fradin, Mélanie
Mathieu, Michèle
Holder-Espinasse, Muriel H.
Houcinat, Nada
Hanna, Nadine
Leperrier, Nathalie
Chassaing, Nicolas
Philip, Nicole
Boute, Odile
Van Kien, Philippe Khau
Parent, Philippe
Bitoun, Pierre
Sarda, Pierre
Vabres, Pierre
Jouk, Pierre-Simon
Touraine, Renaud
El Chehadeh, Salima
Whalen, Sandra
Marlin, Sandrine
Passemard, Sandrine
Grotto, Sarah
Bellanger, Séverine Audebert
Blesson, Sophie
Nambot, Sophie
Naudion, Sophie
Lyonnet, Stanislas
Odent, Sylvie
Attie-Bitach, Tania
Busa, Tiffany
Drouin-Garraud, Valérie
Layet, Valérie
Bizaoui, Varoona
Cusin, Véronica
Capri, Yline
Alembik, Yves
Jean-Marçais, Nolwenn
López-Martín, Estrella
Macek, Milan
Mencarelli, Maria Antonietta
Moutton, Sébastien
Pfundt, Rolph
Safraou, Hana
Thauvin-Robinet, Christel
Thevenon, Julien
Tran Mau-Them, Frédéric
de Vries, Bert B.A.
Willemsen, Marjolein H.
Philippe, Christophe
DB Label: Database : ScienceDirect

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

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issue: Human Genetics. 141(1):65-80
Author: Coursimault, Juliette
Guerrot, Anne-Marie
Morrow, Michelle M.
Schramm, Catherine
Zamora, Francisca Millan
Shanmugham, Anita
Liu, Shuxi
Zou, Fanggeng
Bilan, Frédéric
Le Guyader, Gwenaël
Bruel, Ange-Line^{Aff4, Aff5}
Denommé-Pichon, Anne-Sophie^{Aff4, Aff5}
Faivre, Laurence^{Aff4, Aff6}
Tran Mau-Them, Frédéric^{Aff4, Aff5}
Tessarech, Marine
Colin, Estelle^{Aff7, Aff8}
El Chehadeh, Salima
Gérard, Bénédicte
Schaefer, Elise
Cogne, Benjamin
Isidor, Bertrand
Nizon, Mathilde
Doummar, Diane
Valence, Stéphanie
Héron, Delphine
Keren, Boris
Mignot, Cyril
Coutton, Charles
Devillard, Françoise
Alaix, Anne-Sophie
Amiel, Jeanne
Colleaux, Laurence
Munnich, Arnold
Poirier, Karine
Rio, Marlène
Rondeau, Sophie
Barcia, Giulia
Callewaert, Bert
Dheedene, Annelies
Kumps, Candy
Vergult, Sarah
Menten, Björn
Chung, Wendy K.
Hernan, Rebecca
Larson, Austin
Nori, Kelly
Stewart, Sarah
Wheless, James
Kresge, Christina
Pletcher, Beth A.
Caumes, Roseline
Smol, Thomas
Sigaudy, Sabine
Coubes, Christine
Helm, Margaret
Smith, Rosemarie
Morrison, Jennifer
Wheeler, Patricia G.
Kritzer, Amy
Jouret, Guillaume
Afenjar, Alexandra
Deleuze, Jean-François
Olaso, Robert
Boland, Anne
Poitou, Christine
Frebourg, Thierry
Houdayer, Claude
Saugier-Veber, Pascale
Nicolas, Gaël
Lecoquierre, François^{Aff1, IDs0043902102383z_cor70}
DB Label: Database : Springer Nature Journals

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

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issue: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-7, 7p
Author: Jedraszak, Guillaume
Jobic, Florence
Receveur, Aline
Bilan, Frédéric
Gilbert‐Dussardier, Brigitte
Tiffany, Busa
Missirian, Chantal
Willems, Marjolaine
Odent, Sylvie
Lucas, Josette
Dubourg, Christele
Schaefer, Elise
Scheidecker, Sophie
Lespinasse, James
Goldenberg, Alice
Guerrot, Anne‐Marie
Joly‐Helas, Géraldine
Chambon, Pascal
Le Caignec, Cédric
David, Albert
DB Label: Database : Complementary Index

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

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