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Nature communications, 2022-11, Vol.13 (1), p.6841-6841, Article 6841
- Fasano, Giulia
- Muto, Valentina
- Radio, Francesca Clementina
- Venditti, Martina
- Mosaddeghzadeh, Niloufar
- Coppola, Simona
- Paradisi, Graziamaria
- Zara, Erika
- Bazgir, Farhad
- Ziegler, Alban
- Chillemi, Giovanni
- Bertuccini, Lucia
- Tinari, Antonella
- Vetro, Annalisa
- Pantaleoni, Francesca
- Pizzi, Simone
- Conti, Libenzio Adrian
- Petrini, Stefania
- Bruselles, Alessandro
- Prandi, Ingrid Guarnetti
- Mancini, Cecilia
- Chandramouli, Balasubramanian
- Barth, Magalie
- Bris, Céline
- Milani, Donatella
- Selicorni, Angelo
- Macchiaiolo, Marina
- Gonfiantini, Michaela V
- Bartuli, Andrea
- Mariani, Riccardo
- Curry, Cynthia J
- Guerrini, Renzo
- Slavotinek, Anne
- Iascone, Maria
- Dallapiccola, Bruno
- Ahmadian, Mohammad Reza
- Lauri, Antonella
- Tartaglia, Marco
2022
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Frontiers in neurology, 2023-11, Vol.14
2023
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Frontiers in neurology, 2021-03, Vol.12, p.602979-602979
2021
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American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.565-569
- Tessarech, Marine
- Gorce, Magali
- Boussion, Françoise
- Bault, Jean‐Philippe
- Triau, Stéphane
- Charif, Majida
- Khiaty, Salim
- Delorme, Benoit
- Guichet, Agnès
- Ziegler, Alban
- Bris, Céline
- Laquerrière, Annie
- Fallet‐Bianco, Catherine
- Jacquette, Aurélia
- Salhi, Houria
- Héron, Delphine
- Reynier, Pascal
- Procaccio, Vincent
- Bonneau, Dominique
- Colin, Estelle
2020
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Current opinion in genetics & development, 2022-08, Vol.75, p.101938, Article 101938
2022
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Genetics in Medicine Open, 2024, Vol.2, p.101369, Article 101369
- Chung, Wendy
- Ziegler, Alban
- Koval-Burt, Carrie
- Kay, Denise
- Suchy, Sharon
- Bergtrup, Amber
- Langley, Katherine
- Amendola, Laura
- Boyd, Brenna
- Bradley, Jennifer
- Brandt, Tracy
- Cohen, Lilian
- Coffey, Alison
- Devaney, Joseph
- Dygulska, Beata
- Friedman, Bethany
- Fuleihan, Ramsey
- Gyimah, Awura
- Hernan, Rebecca
- Hofherr, Sean
- Hruska, Kathleen
- Hu, Zhanzhi
- Jeanne, Mederic
- Jin, Guanjun
- Johnson, Aaron
- Kavus, Haluk
- Leibel, Rudolph
- McWalter, Kirsty
- Monaghan, Kristin
- Soler, Nicole Pimentel
- Quevedo, Yeyson
- Ratner, Samantha
- Retterer, Kyle
- Shapiro, Natasha
- Sicko, Robert
- Storm, Samuel
- Torene, Rebecca
- Williams, Olatundun
- Wynn, Julia
- Taft, Ryan
- Kruszka, Paul
- Caggana, Michele
2024
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HGG advances, 2022-07, Vol.3 (3), p.100102-100102, Article 100102
- Sobering, Andrew K.
- Bryant, Laura M.
- Li, Dong
- McGaughran, Julie
- Maystadt, Isabelle
- Moortgat, Stephanie
- Graham, John M.
- van Haeringen, Arie
- Ruivenkamp, Claudia
- Cuperus, Roos
- Vogt, Julie
- Morton, Jenny
- Brasch-Andersen, Charlotte
- Steenhof, Maria
- Hansen, Lars Kjærsgaard
- Adler, Élodie
- Lyonnet, Stanislas
- Pingault, Veronique
- Sandrine, Marlin
- Ziegler, Alban
- Donald, Tyhiesia
- Nelson, Beverly
- Holt, Brandon
- Petryna, Oleksandra
- Firth, Helen
- McWalter, Kirsty
- Zyskind, Jacob
- Telegrafi, Aida
- Juusola, Jane
- Person, Richard
- Bamshad, Michael J.
- Earl, Dawn
- Tsai, Anne Chun-Hui
- Yearwood, Katherine R.
- Marco, Elysa
- Nowak, Catherine
- Douglas, Jessica
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2022
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HGG advances, 2023-01, Vol.4 (1), p.100168, Article 100168
- Sobering, Andrew K.
- Bryant, Laura M.
- Li, Dong
- McGaughran, Julie
- Maystadt, Isabelle
- Moortgat, Stephanie
- Graham, John M.
- van Haeringen, Arie
- Ruivenkamp, Claudia
- Cuperus, Roos
- Vogt, Julie
- Morton, Jenny
- Brasch-Andersen, Charlotte
- Steenhof, Maria
- Hansen, Lars Kjærsgaard
- Adler, Élodie
- Lyonnet, Stanislas
- Pingault, Veronique
- Sandrine, Marlin
- Ziegler, Alban
- Donald, Tyhiesia
- Nelson, Beverly
- Holt, Brandon
- Petryna, Oleksandra
- Firth, Helen
- McWalter, Kirsty
- Zyskind, Jacob
- Telegrafi, Aida
- Juusola, Jane
- Person, Richard
- Bamshad, Michael J.
- Earl, Dawn
- Chun-Hui Tsai, Anne
- Yearwood, Katherine R.
- Marco, Elysa
- Nowak, Catherine
- Douglas, Jessica
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2023
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Human mutation, 2019-07, Vol.40 (7), p.839-841, Article humu.23763
2019
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Current opinion in genetics & development, 2022-08, Vol.75, p.101938-101938, Article 101938
2022
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Amino acids, 2022-04, Vol.54 (4), p.485-499
2022
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Neuron (Cambridge, Mass.), 2020-05, Vol.106 (3), p.404-420.e8
- Lennox, Ashley L.
- Hoye, Mariah L.
- Jiang, Ruiji
- Johnson-Kerner, Bethany L.
- Suit, Lindsey A.
- Venkataramanan, Srivats
- Sheehan, Charles J.
- Alsina, Fernando C.
- Fregeau, Brieana
- Aldinger, Kimberly A.
- Moey, Ching
- Lobach, Iryna
- Afenjar, Alexandra
- Babovic-Vuksanovic, Dusica
- Bézieau, Stéphane
- Blackburn, Patrick R.
- Bunt, Jens
- Burglen, Lydie
- Campeau, Philippe M.
- Charles, Perrine
- Chung, Brian H.Y.
- Cogné, Benjamin
- Curry, Cynthia
- D’Agostino, Maria Daniela
- Di Donato, Nataliya
- Faivre, Laurence
- Héron, Delphine
- Innes, A. Micheil
- Isidor, Bertrand
- Keren, Boris
- Kimball, Amy
- Klee, Eric W.
- Kuentz, Paul
- Küry, Sébastien
- Martin-Coignard, Dominique
- Mirzaa, Ghayda
- Mignot, Cyril
- Miyake, Noriko
- Matsumoto, Naomichi
- Fujita, Atsushi
- Nava, Caroline
- Nizon, Mathilde
- Rodriguez, Diana
- Blok, Lot Snijders
- Thauvin-Robinet, Christel
- Thevenon, Julien
- Vincent, Marie
- Ziegler, Alban
- Dobyns, William
- Richards, Linda J.
- Barkovich, A. James
- Floor, Stephen N.
- Silver, Debra L.
- Sherr, Elliott H.
2020
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European journal of endocrinology, 2024-03, Vol.190 (4), p.266
2024
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International journal of paediatric dentistry, 2024-03, Vol.34 (2), p.145-152
2024
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Human molecular genetics, 2023-06, Vol.32 (12), p.2016-2031
2023
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British journal of dermatology (1951), 2023-07, Vol.189 (1), p.131-132
2023
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Revue neurologique, 2022-04, Vol.178, p.S45-S45
2022
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Revue neurologique, 2022-04, Vol.178, p.S46-S47
2022
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Journal of thrombosis and haemostasis, 2023-11, Vol.21 (11), p.3268-3278
- Kauskot, Alexandre
- Mallebranche, Coralie
- Bruneel, Arnaud
- Fenaille, François
- Solarz, Jean
- Viellard, Toscane
- Feng, Miao
- Repérant, Christelle
- Bordet, Jean-Claude
- Cholet, Sophie
- Denis, Cécile V.
- McCluskey, Geneviève
- Latour, Sylvain
- Martin, Emmanuel
- Pellier, Isabelle
- Lasne, Dominique
- Borgel, Delphine
- Kracker, Sven
- Ziegler, Alban
- Tuffigo, Marie
- Fournier, Benjamin
- Miot, Charline
- Adam, Frédéric
2023
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American journal of human genetics, 2024-06, Vol.111 (6), p.1184-1205
- Yang, Fang
- Begemann, Anais
- Reichhart, Nadine
- Haeckel, Akvile
- Steindl, Katharina
- Schellenberger, Eyk
- Sturm, Ronja Fini
- Barth, Magalie
- Bassani, Sissy
- Boonsawat, Paranchai
- Courtin, Thomas
- Delobel, Bruno
- Gunning, Boudewijn
- Hardies, Katia
- Jennesson, Mélanie
- Legoff, Louis
- Linnankivi, Tarja
- Prouteau, Clément
- Smal, Noor
- Spodenkiewicz, Marta
- Toelle, Sandra P.
- Van Gassen, Koen
- Van Paesschen, Wim
- Verbeek, Nienke
- Ziegler, Alban
- Zweier, Markus
- Horn, Anselm H.C.
- Sticht, Heinrich
- Lerche, Holger
- Weckhuysen, Sarah
- Strauß, Olaf
- Rauch, Anita
2024
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American journal of human genetics, 2022-08, Vol.109 (8), p.1549-1558
- Ziegler, Alban
- Steindl, Katharina
- Hanner, Ashleigh S.
- Kar, Rajesh Kumar
- Prouteau, Clément
- Boland, Anne
- Deleuze, Jean Francois
- Coubes, Christine
- Bézieau, Stéphane
- Küry, Sébastien
- Maystadt, Isabelle
- Le Mao, Morgane
- Lenaers, Guy
- Navet, Benjamin
- Faivre, Laurence
- Tran Mau-Them, Frédéric
- Zanoni, Paolo
- Chung, Wendy K.
- Rauch, Anita
- Bonneau, Dominique
- Park, Myung Hee
2022
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Clinical genetics, 2019-10, Vol.96 (4), p.354-358
2019
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American journal of human genetics, 2016-09, Vol.99 (3), p.695-703
- Colin, Estelle
- Daniel, Jens
- Ziegler, Alban
- Wakim, Jamal
- Scrivo, Aurora
- Haack, Tobias B.
- Khiati, Salim
- Denommé, Anne-Sophie
- Amati-Bonneau, Patrizia
- Charif, Majida
- Procaccio, Vincent
- Reynier, Pascal
- Aleck, Kyrieckos A.
- Botto, Lorenzo D.
- Herper, Claudia Lena
- Kaiser, Charlotte Sophia
- Nabbout, Rima
- N’Guyen, Sylvie
- Mora-Lorca, José Antonio
- Assmann, Birgit
- Christ, Stine
- Meitinger, Thomas
- Strom, Tim M.
- Prokisch, Holger
- Génin, Emmanuelle
- Campion, Dominique
- Dartigues, Jean-François
- Deleuze, Jean-François
- Lambert, Jean-Charles
- Redon, Richard
- Ludwig, Thomas
- Grenier-Boley, Benjamin
- Letort, Sébastien
- Lindenbaum, Pierre
- Meyer, Vincent
- Quenez, Olivier
- Dina, Christian
- Bellenguez, Céline
- -Le Clézio, Camille Charbonnier
- Giemza, Joanna
- Chatel, Stéphanie
- Férec, Claude
- Le Marec, Hervé
- Letenneur, Luc
- Nicolas, Gaël
- Rouault, Karen
- Bacq, Delphine
- Boland, Anne
- Lechner, Doris
- Miranda-Vizuete, Antonio
- Hoffmann, Georg F.
- Lenaers, Guy
- Bomont, Pascale
- Liebau, Eva
- Bonneau, Dominique
2016
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The journal of maternal-fetal & neonatal medicine, 2021-07, Vol.34 (13), p.2217-2220
2021
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Clinical genetics, 2021-11, Vol.100 (5), p.628-633
- Nøstvik, Miriam
- Kateta, Sarah M.
- Schönewolf‐Greulich, Bitten
- Afenjar, Alexandra
- Barth, Magalie
- Boschann, Felix
- Doummar, Diane
- Haack, Tobias B.
- Keren, Boris
- Livshits, Ludmila A.
- Mei, Davide
- Park, Joohyun
- Pisano, Tiziana
- Prouteau, Clement
- Umair, Muhammad
- Waqas, Ahmed
- Ziegler, Alban
- Guerrini, Renzo
- Møller, Rikke S.
- Tümer, Zeynep
2021
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