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Journal of human genetics, 2022-02, Vol.67 (2), p.95-101
2022
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American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2460-2465
2022
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Genetics in medicine, 2024-06, Vol.26 (6), p.101119-101119, Article 101119
- Lecoquierre, François
- Punt, A. Mattijs
- Ebstein, Frédéric
- Wallaard, Ilse
- Verhagen, Rob
- Studencka-Turski, Maja
- Duffourd, Yannis
- Moutton, Sébastien
- Tran Mau-Them, Frédédic
- Philippe, Christophe
- Dean, John
- Tennant, Stephen
- Brooks, Alice S.
- van Slegtenhorst, Marjon A.
- Jurgens, Julie A.
- Barry, Brenda J.
- Chan, Wai-Man
- England, Eleina M.
- Martinez Ojeda, Mayra
- Engle, Elizabeth C.
- Robson, Caroline D.
- Morrow, Michelle
- Innes, A. Micheil
- Lamont, Ryan
- Sanderson, Matthea
- Krüger, Elke
- Thauvin, Christel
- Distel, Ben
- Faivre, Laurence
- Elgersma, Ype
- Vitobello, Antonio
2024
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Human mutation, 2022-04, Vol.43 (4), p.487-498
- Natera‐de Benito, Daniel
- Jurgens, Julie A.
- Yeung, Alison
- Zaharieva, Irina T.
- Manzur, Adnan
- DiTroia, Stephanie P.
- Di Gioia, Silvio Alessandro
- Pais, Lynn
- Pini, Veronica
- Barry, Brenda J.
- Chan, Wai‐Man
- Elder, James E.
- Christodoulou, John
- Hay, Eleanor
- England, Eleina M.
- Munot, Pinki
- Hunter, David G.
- Feng, Lucy
- Ledoux, Danielle
- O'Donnell‐Luria, Anne
- Phadke, Rahul
- Engle, Elizabeth C.
- Sarkozy, Anna
- Muntoni, Francesco
2022
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European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.816-826
2021
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American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2075-2082
- Kruszka, Paul
- Hu, Tommy
- Hong, Sungkook
- Signer, Rebecca
- Cogné, Benjamin
- Isidor, Betrand
- Mazzola, Sarah E.
- Giltay, Jacques C.
- Gassen, Koen L. I.
- England, Eleina M.
- Pais, Lynn
- Ockeloen, Charlotte W.
- Sanchez‐Lara, Pedro A.
- Kinning, Esther
- Adams, Darius J.
- Treat, Kayla
- Torres‐Martinez, Wilfredo
- Bedeschi, Maria F.
- Iascone, Maria
- Blaney, Stephanie
- Bell, Oliver
- Tan, Tiong Y.
- Delrue, Marie‐Ange
- Jurgens, Julie
- Barry, Brenda J.
- Engle, Elizabeth C.
- Savage, Sarah K.
- Fleischer, Nicole
- Martinez‐Agosto, Julian A.
- Boycott, Kym
- Zackai, Elaine H.
- Muenke, Maximilian
2019
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Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488
2020
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Nature genetics, 2024-03, Vol.56 (3), p.395-407
- Töpf, Ana
- Cox, Dan
- Zaharieva, Irina T
- Di Leo, Valeria
- Sarparanta, Jaakko
- Jonson, Per Harald
- Sealy, Ian M
- Smolnikov, Andrei
- White, Richard J
- Vihola, Anna
- Savarese, Marco
- Merteroglu, Munise
- Wali, Neha
- Laricchia, Kristen M
- Venturini, Cristina
- Vroling, Bas
- Stenton, Sarah L
- Cummings, Beryl B
- Harris, Elizabeth
- Marini-Bettolo, Chiara
- Diaz-Manera, Jordi
- Henderson, Matt
- Barresi, Rita
- Duff, Jennifer
- England, Eleina M
- Patrick, Jane
- Al-Husayni, Sundos
- Biancalana, Valerie
- Beggs, Alan H
- Bodi, Istvan
- Bommireddipalli, Shobhana
- Bönnemann, Carsten G
- Cairns, Anita
- Chiew, Mei-Ting
- Claeys, Kristl G
- Cooper, Sandra T
- Davis, Mark R
- Donkervoort, Sandra
- Erasmus, Corrie E
- Fassad, Mahmoud R
- Genetti, Casie A
- Grosmann, Carla
- Jungbluth, Heinz
- Kamsteeg, Erik-Jan
- Lornage, Xavière
- Löscher, Wolfgang N
- Malfatti, Edoardo
- Manzur, Adnan
- Martí, Pilar
- Mongini, Tiziana E
- Muelas, Nuria
- Nishikawa, Atsuko
- O'Donnell-Luria, Anne
- Ogonuki, Narumi
- O'Grady, Gina L
- O'Heir, Emily
- Paquay, Stéphanie
- Phadke, Rahul
- Pletcher, Beth A
- Romero, Norma B
- Schouten, Meyke
- Shah, Snehal
- Smuts, Izelle
- Sznajer, Yves
- Tasca, Giorgio
- Taylor, Robert W
- Tuite, Allysa
- Van den Bergh, Peter
- VanNoy, Grace
- Voermans, Nicol C
- Wanschitz, Julia V
- Wraige, Elizabeth
- Yoshimura, Kimihiko
- Oates, Emily C
- Nakagawa, Osamu
- Nishino, Ichizo
- Laporte, Jocelyn
- Vilchez, Juan J
- MacArthur, Daniel G
- Sarkozy, Anna
- Cordell, Heather J
- Udd, Bjarne
- Busch-Nentwich, Elisabeth M
- Muntoni, Francesco
- Straub, Volker
2024
Volltextzugriff (PDF)
American journal of human genetics, 2021-05, Vol.108 (5), p.951-961
- Jeanne, Médéric
- Demory, Hélène
- Moutal, Aubin
- Vuillaume, Marie-Laure
- Blesson, Sophie
- Thépault, Rose-Anne
- Marouillat, Sylviane
- Halewa, Judith
- Maas, Saskia M.
- Motazacker, M. Mahdi
- Mancini, Grazia M.S.
- van Slegtenhorst, Marjon A.
- Andreou, Avgi
- Cox, Helene
- Vogt, Julie
- Laufman, Jason
- Kostandyan, Natella
- Babikyan, Davit
- Hancarova, Miroslava
- Bendova, Sarka
- Sedlacek, Zdenek
- Aldinger, Kimberly A.
- Sherr, Elliott H.
- Argilli, Emanuela
- England, Eleina M.
- Audebert-Bellanger, Séverine
- Bonneau, Dominique
- Colin, Estelle
- Denommé-Pichon, Anne-Sophie
- Gilbert-Dussardier, Brigitte
- Isidor, Bertrand
- Küry, Sébastien
- Odent, Sylvie
- Redon, Richard
- Khanna, Rajesh
- Dobyns, William B.
- Bézieau, Stéphane
- Honnorat, Jérôme
- Lohkamp, Bernhard
- Toutain, Annick
- Laumonnier, Frédéric
2021
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.119-133
- Dyment, David A.
- O'Donnell‐Luria, Anne
- Agrawal, Pankaj B.
- Coban Akdemir, Zeynep
- Aleck, Kyrieckos A.
- Antaki, Danny
- Al Sharhan, Hind
- Au, Ping‐Yee B.
- Aydin, Hatip
- Beggs, Alan H.
- Bilguvar, Kaya
- Boerwinkle, Eric
- Brand, Harrison
- Brownstein, Catherine A.
- Buyske, Steve
- Chodirker, Bernard
- Choi, Jungmin
- Chudley, Albert E.
- Clericuzio, Carol L.
- Cox, Gerald F.
- Curry, Cynthia
- Boer, Elke
- Vries, Bert B. A.
- Dunn, Kathryn
- Dutmer, Cullen M.
- England, Eleina M.
- Fahrner, Jill A.
- Geckinli, Bilgen B.
- Genetti, Casie A.
- Gezdirici, Alper
- Gibson, William T.
- Gleeson, Joseph G.
- Greenberg, Cheryl R.
- Hall, April
- Hamosh, Ada
- Hartley, Taila
- Jhangiani, Shalini N.
- Karaca, Ender
- Kernohan, Kristin
- Lauzon, Julie L.
- Lewis, M. E. Suzanne
- Lowry, R. Brian
- López‐Giráldez, Francesc
- Matise, Tara C.
- McEvoy‐Venneri, Jennifer
- McInnes, Brenda
- Mhanni, Aziz
- Garcia Minaur, Sixto
- Moilanen, Jukka
- Nguyen, An
- Nowaczyk, Malgorzata J. M.
- Posey, Jennifer E.
- Õunap, Katrin
- Pehlivan, Davut
- Pajusalu, Sander
- Penney, Lynette S.
- Poterba, Timothy
- Prontera, Paolo
- Doriqui, Maria Juliana Rodovalho
- Sawyer, Sarah L.
- Sobreira, Nara
- Stanley, Valentina
- Torun, Deniz
- Wargowski, David
- Witmer, P. Dane
- Wong, Isaac
- Xing, Jinchuan
- Zaki, Maha S.
- Zhang, Yeting
- Boycott, Kym M.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Blue, Elizabeth E.
- Innes, A. Micheil
2021
Volltextzugriff (PDF)
Nature (London), 2021-02, Vol.590 (7846), p.E53-E53
- Karczewski, Konrad J
- Francioli, Laurent C
- Tiao, Grace
- Cummings, Beryl B
- Alföldi, Jessica
- Wang, Qingbo
- Collins, Ryan L
- Laricchia, Kristen M
- Ganna, Andrea
- Birnbaum, Daniel P
- Gauthier, Laura D
- Brand, Harrison
- Solomonson, Matthew
- Watts, Nicholas A
- Rhodes, Daniel
- Singer-Berk, Moriel
- England, Eleina M
- Seaby, Eleanor G
- Kosmicki, Jack A
- Walters, Raymond K
- Tashman, Katherine
- Farjoun, Yossi
- Banks, Eric
- Poterba, Timothy
- Wang, Arcturus
- Seed, Cotton
- Whiffin, Nicola
- Chong, Jessica X
- Samocha, Kaitlin E
- Pierce-Hoffman, Emma
- Zappala, Zachary
- O'Donnell-Luria, Anne H
- Minikel, Eric Vallabh
- Weisburd, Ben
- Lek, Monkol
- Ware, James S
- Vittal, Christopher
- Armean, Irina M
- Bergelson, Louis
- Cibulskis, Kristian
- Connolly, Kristen M
- Covarrubias, Miguel
- Donnelly, Stacey
- Ferriera, Steven
- Gabriel, Stacey
- Gentry, Jeff
- Gupta, Namrata
- Jeandet, Thibault
- Kaplan, Diane
- Llanwarne, Christopher
- Munshi, Ruchi
- Novod, Sam
- Petrillo, Nikelle
- Roazen, David
- Ruano-Rubio, Valentin
- Saltzman, Andrea
- Schleicher, Molly
- Soto, Jose
- Tibbetts, Kathleen
- Tolonen, Charlotte
- Wade, Gordon
- Talkowski, Michael E
- Neale, Benjamin M
- Daly, Mark J
- MacArthur, Daniel G
2021
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2022, Vol.188 (8), p.2460-2465
2022
Volltextzugriff (PDF)
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