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Nature communications, 2019-04, Vol.10 (1), p.1869-9, Article 1869
- Bowden, Rory
- Davies, Robert W
- Heger, Andreas
- Pagnamenta, Alistair T
- de Cesare, Mariateresa
- Oikkonen, Laura E
- Parkes, Duncan
- Freeman, Colin
- Dhalla, Fatima
- Patel, Smita Y
- Popitsch, Niko
- Ip, Camilla L C
- Roberts, Hannah E
- Salatino, Silvia
- Lockstone, Helen
- Lunter, Gerton
- Taylor, Jenny C
- Buck, David
- Simpson, Michael A
- Donnelly, Peter
2019
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Genetics in medicine, 2020-01, Vol.22 (1), p.85-94
2020
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Nature reviews. Genetics, 2021-08, Vol.22 (8), p.477
2021
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Genetics in medicine, 2018-10, Vol.20 (10), p.1175-1185
- Johnston, Jennifer J
- van der Smagt, Jasper J
- Rosenfeld, Jill A
- Pagnamenta, Alistair T
- Alswaid, Abdulrahman
- Baker, Eva H
- Blair, Edward
- Borck, Guntram
- Brinkmann, Julia
- Craigen, William
- Dung, Vu Chi
- Emrick, Lisa
- Everman, David B
- van Gassen, Koen L
- Gulsuner, Suleyman
- Harr, Margaret H
- Jain, Mahim
- Kuechler, Alma
- Leppig, Kathleen A
- McDonald-McGinn, Donna M
- Can, Ngoc Thi Bich
- Peleg, Amir
- Roeder, Elizabeth R
- Rogers, R Curtis
- Sagi-Dain, Lena
- Sapp, Julie C
- Schäffer, Alejandro A
- Schanze, Denny
- Stewart, Helen
- Taylor, Jenny C
- Verbeek, Nienke E
- Walkiewicz, Magdalena A
- Zackai, Elaine H
- Zweier, Christiane
- Zenker, Martin
- Lee, Brendan
- Biesecker, Leslie G
2018
Link zum Volltext
Nature communications, 2021-03, Vol.12 (1), p.1626-1626, Article 1626
- Baxley, Ryan M
- Leung, Wendy
- Schmit, Megan M
- Matson, Jacob Peter
- Yin, Lulu
- Oram, Marissa K
- Wang, Liangjun
- Taylor, John
- Hedberg, Jack
- Rogers, Colette B
- Harvey, Adam J
- Basu, Debashree
- Taylor, Jenny C
- Pagnamenta, Alistair T
- Dreau, Helene
- Craft, Jude
- Ormondroyd, Elizabeth
- Watkins, Hugh
- Hendrickson, Eric A
- Mace, Emily M
- Orange, Jordan S
- Aihara, Hideki
- Stewart, Grant S
- Blair, Edward
- Cook, Jeanette Gowen
- Bielinsky, Anja-Katrin
2021
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Nature genetics, 2016-11, Vol.48 (11), p.1349-1358
- Broix, Loïc
- Jagline, Hélène
- Ivanova, Ekaterina
- Schmucker, Stéphane
- Drouot, Nathalie
- Clayton-Smith, Jill
- Pagnamenta, Alistair T
- Metcalfe, Kay A
- Isidor, Bertrand
- Louvier, Ulrike Walther
- Poduri, Annapurna
- Taylor, Jenny C
- Tilly, Peggy
- Poirier, Karine
- Saillour, Yoann
- Lebrun, Nicolas
- Stemmelen, Tristan
- Rudolf, Gabrielle
- Muraca, Giuseppe
- Saintpierre, Benjamin
- Elmorjani, Adrienne
- Moïse, Martin
- Weirauch, Nathalie Bednarek
- Guerrini, Renzo
- Boland, Anne
- Olaso, Robert
- Masson, Cecile
- Tripathy, Ratna
- Keays, David
- Beldjord, Cherif
- Nguyen, Laurent
- Godin, Juliette
- Kini, Usha
- Nischké, Patrick
- Deleuze, Jean-François
- Bahi-Buisson, Nadia
- Sumara, Izabela
- Hinckelmann, Maria-Victoria
- Chelly, Jamel
2016
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Scientific reports, 2021-03, Vol.11 (1), p.6408-6408, Article 6408
2021
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American journal of human genetics, 2018-10, Vol.103 (4), p.592-601
- Alston, Charlotte L.
- Heidler, Juliana
- Dibley, Marris G.
- Kremer, Laura S.
- Taylor, Lucie S.
- Fratter, Carl
- French, Courtney E.
- Glasgow, Ruth I.C.
- Feichtinger, René G.
- Delon, Isabelle
- Pagnamenta, Alistair T.
- Dolling, Helen
- Lemonde, Hugh
- Aiton, Neil
- Bjørnstad, Alf
- Henneke, Lisa
- Gärtner, Jutta
- Thiele, Holger
- Tauchmannova, Katerina
- Quaghebeur, Gerardine
- Houstek, Josef
- Sperl, Wolfgang
- Raymond, F. Lucy
- Prokisch, Holger
- Mayr, Johannes A.
- McFarland, Robert
- Poulton, Joanna
- Ryan, Michael T.
- Wittig, Ilka
- Henneke, Marco
- Taylor, Robert W.
2018
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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679
2017
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American journal of human genetics, 2014-02, Vol.94 (2), p.278-287
- Howard, Malcolm F.
- Murakami, Yoshiko
- Pagnamenta, Alistair T.
- Daumer-Haas, Cornelia
- Fischer, Björn
- Hecht, Jochen
- Keays, David A.
- Knight, Samantha J.L.
- Kölsch, Uwe
- Krüger, Ulrike
- Leiz, Steffen
- Maeda, Yusuke
- Mitchell, Daphne
- Mundlos, Stefan
- Phillips, John A.
- Robinson, Peter N.
- Kini, Usha
- Taylor, Jenny C.
- Horn, Denise
- Kinoshita, Taroh
- Krawitz, Peter M.
2014
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Human mutation, 2023-04, Vol.2023, p.1-9
2023
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American journal of human genetics, 2016-09, Vol.99 (3), p.555-566
- Joshi, Ricky S.
- Garg, Paras
- Zaitlen, Noah
- Lappalainen, Tuuli
- Watson, Corey T.
- Azam, Nidha
- Ho, Daniel
- Li, Xin
- Antonarakis, Stylianos E.
- Brunner, Han G.
- Buiting, Karin
- Cheung, Sau Wai
- Coffee, Bradford
- Eggermann, Thomas
- Francis, David
- Geraedts, Joep P.
- Gimelli, Giorgio
- Jacobson, Samuel G.
- Le Caignec, Cedric
- de Leeuw, Nicole
- Liehr, Thomas
- Mackay, Deborah J.
- Montgomery, Stephen B.
- Pagnamenta, Alistair T.
- Papenhausen, Peter
- Robinson, David O.
- Ruivenkamp, Claudia
- Schwartz, Charles
- Steiner, Bernhard
- Stevenson, David A.
- Surti, Urvashi
- Wassink, Thomas
- Sharp, Andrew J.
2016
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Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28
2021
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Clinical genetics, 2019-06, Vol.95 (6), p.693-703
- Pagnamenta, Alistair T.
- Kaisaki, Pamela J.
- Bennett, Fenella
- Burkitt‐Wright, Emma
- Martin, Hilary C.
- Ferla, Matteo P.
- Taylor, John M.
- Gompertz, Lianne
- Lahiri, Nayana
- Tatton‐Brown, Katrina
- Newbury‐Ecob, Ruth
- Henderson, Alex
- Joss, Shelagh
- Weber, Astrid
- Carmichael, Jenny
- Turnpenny, Peter D.
- McKee, Shane
- Forzano, Francesca
- Ashraf, Tazeen
- Bradbury, Kimberley
- Shears, Deborah
- Kini, Usha
- de Burca, Anna
- Blair, Edward
- Taylor, Jenny C.
- Stewart, Helen
2019
Link zum Volltext
Brain (London, England : 1878), 2013-11, Vol.136 (Pt 11), p.3378-3394
- CONTI, Valerio
- CARABALONA, Aurelie
- WATRIN, Françoise
- LISE, Stefano
- PAGNAMENTA, Alistair T
- TAYLOR, Jenny C
- KINI, Usha
- CLAYTON-SMITH, Jill
- NOVARA, Francesca
- ZUFFARDI, Orsetta
- DOBYNS, William B
- SCHEFFER, Ingrid E
- PALLESI-POCACHARD, Emilie
- ROBERTSON, Stephen P
- BERKOVIC, Samuel F
- REPRESA, Alfonso
- KEAYS, David A
- CARDOSO, Carlos
- GUERRINI, Renzo
- PARRINI, Elena
- LEVENTER, Richard J
- BUHLER, Emmanuelle
- MCGILLIVRAY, George
- MICHEL, François J
- STRIANO, Pasquale
- MEI, Davide
2013
Link zum Volltext
European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279
- Ghosh, Shereen G
- Scala, Marcello
- Beetz, Christian
- Helman, Guy
- Stanley, Valentina
- Yang, Xiaoxu
- Breuss, Martin W
- Mazaheri, Neda
- Selim, Laila
- Hadipour, Fatemeh
- Pais, Lynn
- Stutterd, Chloe A
- Karageorgou, Vasiliki
- Begtrup, Amber
- Crunk, Amy
- Juusola, Jane
- Willaert, Rebecca
- Flore, Leigh A
- Kennelly, Kelly
- Spencer, Christopher
- Brown, Martha
- Trapane, Pamela
- Hurst, Anna C E
- Lane Rutledge, S
- Goodloe, Dana H
- McDonald, Marie T
- Shashi, Vandana
- Schoch, Kelly
- Tomoum, Hoda
- Zaitoun, Raghda
- Hadipour, Zahra
- Galehdari, Hamid
- Pagnamenta, Alistair T
- Mojarrad, Majid
- Sedaghat, Alireza
- Dias, Patrícia
- Quintas, Sofia
- Eslahi, Atiyeh
- Shariati, Gholamreza
- Bauer, Peter
- Simons, Cas
- Houlden, Henry
- Issa, Mahmoud Y
- Zaki, Maha S
- Maroofian, Reza
- Gleeson, Joseph G
2021
Link zum Volltext
Frontiers in immunology, 2019-06, Vol.10, p.1150
2019
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Genome medicine, 2019-07, Vol.11 (1), p.46-46, Article 46
2019
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Cell reports (Cambridge), 2016-06, Vol.15 (10), p.2251-2265
2016
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Annals of clinical and translational neurology, 2023-10, Vol.10 (10), p.1910-1916
2023
Link zum Volltext
Stem cell research & therapy, 2019-08, Vol.10 (1), p.273-273, Article 273
2019
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Journal of human genetics, 2012-01, Vol.57 (1), p.70-72
2012
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Translational psychiatry, 2020-06, Vol.10 (1), p.204-204, Article 204
- Lin, Bochao Danae
- Colas, Fabrice
- Nijman, Isaac J
- Medic, Jelena
- Brands, William
- Parr, Jeremy R
- van Eijk, Kristel R
- Klauck, Sabine M
- Chiocchetti, Andreas G
- Freitag, Christine M
- Maestrini, Elena
- Bacchelli, Elena
- Coon, Hilary
- Vicente, Astrid
- Oliveira, Guiomar
- Pagnamenta, Alistair T
- Gallagher, Louise
- Ennis, Sean
- Anney, Richard
- Bourgeron, Thomas
- Luykx, Jurjen J
- Vorstman, Jacob
2020
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Journal of molecular biology, 2022-06, Vol.434 (11), p.167567, Article 167567
2022
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Bioinformatics, 2020-05, Vol.36 (10), p.3268-3270
2020
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