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Human mutation, 2014-01, Vol.35 (1), p.137-146
- Thomas, Sophie
- Wright, Kevin J.
- Corre, Stéphanie Le
- Micalizzi, Alessia
- Romani, Marta
- Abhyankar, Avinash
- Saada, Julien
- Perrault, Isabelle
- Amiel, Jeanne
- Litzler, Julie
- Filhol, Emilie
- Elkhartoufi, Nadia
- Kwong, Mandy
- Casanova, Jean-Laurent
- Boddaert, Nathalie
- Baehr, Wolfgang
- Lyonnet, Stanislas
- Munnich, Arnold
- Burglen, Lydie
- Chassaing, Nicolas
- Encha-Ravazi, Ferechté
- Vekemans, Michel
- Gleeson, Joseph G.
- Valente, Enza Maria
- Jackson, Peter K.
- Drummond, Iain A.
- Saunier, Sophie
- Attié-Bitach, Tania
2014
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European journal of medical genetics, 2018-02, Vol.61 (2), p.72-78
2018
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European journal of human genetics : EJHG, 2009-10, Vol.17 (10), p.1325-1335
- HILTON, Emma
- JOHNSTON, Jennifer
- KOSAKI, Kenjiro
- MANOUVRIER, Sylvie
- BOUTE, Odile
- PERVEEN, Rahat
- LAW, Caroline
- MOORE, Anthony
- FITZPATRICK, David
- LEMKE, Johannes
- FELLMANN, Florence
- DEBRAY, François-Guillaume
- WHALEN, Sandra
- DASTOT-LE-MOAL, Florence
- GERARD, Marion
- MARTIN, Josiane
- BITOUN, Pierre
- GOOSSENS, Michel
- VERLOES, Alain
- SCHINZEL, Albert
- BARTHOLDI, Deborah
- BARDAKJIAN, Tanya
- HAY, Beverly
- OKAMOTO, Nobuhiko
- JENNY, Kim
- JOHNSTON, Kathreen
- LYONS, Michael
- BELMONT, John W
- BIESECKER, Leslie G
- GIURGEA, Irina
- BLACK, Graeme
- HATSUKAWA, Yoshikazu
- NISHIO, Juntaro
- KOHARA, Hiroshi
- HIRANO, Yoshiko
- MIZUNO, Seiji
- TORII, Chiharu
2009
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American journal of kidney diseases, 2021-03, Vol.77 (3), p.410-419
2021
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Neurobiology of disease, 2021-03, Vol.150, p.105236-105236, Article 105236
2021
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Nature cell biology, 2017-10, Vol.19 (10), p.1178
2017
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Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522
- Bachmann-Gagescu, R
- Dempsey, J C
- Phelps, I G
- O'Roak, B J
- Knutzen, D M
- Rue, T C
- Ishak, G E
- Isabella, C R
- Gorden, N
- Adkins, J
- Boyle, E A
- de Lacy, N
- O'Day, D
- Alswaid, A
- Ramadevi A, Radha
- Lingappa, L
- Lourenço, C
- Martorell, L
- Garcia-Cazorla, À
- Ozyürek, H
- Haliloğlu, G
- Tuysuz, B
- Topçu, M
- Chance, P
- Parisi, M A
- Glass, I A
- Shendure, J
- Doherty, D
2015
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Journal of medical genetics, 2023-04, Vol.60 (4), p.368
- Reis, Linda M
- Maheshwari, Mohit
- Capasso, Jenina
- Atilla, Huban
- Dudakova, Lubica
- Thompson, Samuel
- Zitano, Lia
- Lay-Son, Guillermo
- Lowry, R Brian
- Black, Jennifer
- Lee, Joseph
- Shue, Ann
- Kremlikova Pourova, Radka
- Vaneckova, Manuela
- Skalicka, Pavlina
- Jedlickova, Jana
- Trkova, Marie
- Williams, Bradley
- Richard, Gabriele
- Bachman, Kristine
- Seeley, Andrea H
- Costakos, Deborah
- Glaser, Thomas M
- Levin, Alex V
- Liskova, Petra
- Murray, Jeffrey C
- Semina, Elena V
2023
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American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.229-249
- Bachmann‐Gagescu, Ruxandra
- Dempsey, Jennifer C.
- Bulgheroni, Sara
- Chen, Maida L.
- D'Arrigo, Stefano
- Glass, Ian A.
- Heller, Theo
- Héon, Elise
- Hildebrandt, Friedhelm
- Joshi, Nirmal
- Knutzen, Dana
- Kroes, Hester Y.
- Mack, Stephen H.
- Nuovo, Sara
- Parisi, Melissa A.
- Snow, Joseph
- Summers, Angela C.
- Symons, Jordan M.
- Zein, Wadih M.
- Boltshauser, Eugen
- Sayer, John A.
- Gunay‐Aygun, Meral
- Valente, Enza Maria
- Doherty, Dan
2020
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Genetics in medicine, 2017-08, Vol.19 (8), p.875-882
- Vilboux, Thierry
- Doherty, Daniel A
- Glass, Ian A
- Parisi, Melissa A
- Phelps, Ian G
- Cullinane, Andrew R
- Zein, Wadih
- Brooks, Brian P
- Heller, Theo
- Soldatos, Ariane
- Oden, Neal L
- Yildirimli, Deniz
- Vemulapalli, Meghana
- Mullikin, James C
- Nisc Comparative Sequencing Program
- Malicdan, May Christine V
- Gahl, William A
- Gunay-Aygun, Meral
2017
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The Journal of immunology (1950), 2012-10, Vol.189 (8), p.3957-3969
2012
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Nature cell biology, 2015-08, Vol.17 (8), p.1074
- Wheway, Gabrielle
- Schmidts, Miriam
- Mans, Dorus A
- Szymanska, Katarzyna
- Nguyen, Thanh-Minh T
- Racher, Hilary
- Phelps, Ian G
- Toedt, Grischa
- Kennedy, Julie
- Wunderlich, Kirsten A
- Sorusch, Nasrin
- Abdelhamed, Zakia A
- Natarajan, Subaashini
- Herridge, Warren
- van Reeuwijk, Jeroen
- Horn, Nicola
- Boldt, Karsten
- Parry, David A
- Letteboer, Stef J F
- Roosing, Susanne
- Adams, Matthew
- Bell, Sandra M
- Bond, Jacquelyn
- Higgins, Julie
- Morrison, Ewan E
- Tomlinson, Darren C
- Slaats, Gisela G
- van Dam, Teunis J P
- Huang, Lijia
- Kessler, Kristin
- Giessl, Andreas
- Logan, Clare V
- Boyle, Evan A
- Shendure, Jay
- Anazi, Shamsa
- Aldahmesh, Mohammed
- Al Hazzaa, Selwa
- Hegele, Robert A
- Ober, Carole
- Frosk, Patrick
- Mhanni, Aizeddin A
- Chodirker, Bernard N
- Chudley, Albert E
- Lamont, Ryan
- Bernier, Francois P
- Beaulieu, Chandree L
- Gordon, Paul
- Pon, Richard T
- Donahue, Clem
- Barkovich, A James
- Wolf, Louis
- Toomes, Carmel
- Thiel, Christian T
- Boycott, Kym M
- McKibbin, Martin
- Inglehearn, Chris F
- Stewart, Fiona
- Omran, Heymut
- Huynen, Martijn A
- Sergouniotis, Panagiotis I
- Alkuraya, Fowzan S
- Parboosingh, Jillian S
- Innes, A Micheil
- Willoughby, Colin E
- Giles, Rachel H
- Webster, Andrew R
- Ueffing, Marius
- Blacque, Oliver
- Gleeson, Joseph G
- Wolfrum, Uwe
- Beales, Philip L
- Gibson, Toby
- Doherty, Dan
- Mitchison, Hannah M
- Roepman, Ronald
- Johnson, Colin A
2015
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Lancet neurology, 2013-09, Vol.12 (9), p.894-905
2013
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Clinical journal of the American Society of Nephrology, 2017-12, Vol.12 (12), p.1962-1973
2017
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Biochimica et biophysica acta, 2016-08, Vol.1857 (8), p.1300-1306
2016
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Human molecular genetics, 2018-05, Vol.27 (10), p.1743-1753
2018
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Human molecular genetics, 2017-12, Vol.26 (23), p.4657-4667
2017
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Developmental cell, 2015-08, Vol.34 (3), p.338-350
2015
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Genetics in medicine, 2015-11, Vol.17 (11), p.843-853
2015
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Matrix biology, 2018-10, Vol.71-72, p.250-261
2018
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FEBS letters, 2014-04, Vol.588 (8), p.1339-1348
2014
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The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4423-4439
- Latour, Brooke L
- Van De Weghe, Julie C
- Rusterholz, Tamara Ds
- Letteboer, Stef Jf
- Gomez, Arianna
- Shaheen, Ranad
- Gesemann, Matthias
- Karamzade, Arezou
- Asadollahi, Mostafa
- Barroso-Gil, Miguel
- Chitre, Manali
- Grout, Megan E
- van Reeuwijk, Jeroen
- van Beersum, Sylvia Ec
- Miller, Caitlin V
- Dempsey, Jennifer C
- Morsy, Heba
- Bamshad, Michael J
- Nickerson, Deborah A
- Neuhauss, Stephan Cf
- Boldt, Karsten
- Ueffing, Marius
- Keramatipour, Mohammad
- Sayer, John A
- Alkuraya, Fowzan S
- Bachmann-Gagescu, Ruxandra
- Roepman, Ronald
- Doherty, Dan
2020
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Nature genetics, 2011-08, Vol.43 (8), p.776-784
2011
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American journal of human genetics, 2017-07, Vol.101 (1), p.23-36
- Van De Weghe, Julie C.
- Rusterholz, Tamara D.S.
- Latour, Brooke
- Grout, Megan E.
- Aldinger, Kimberly A.
- Shaheen, Ranad
- Dempsey, Jennifer C.
- Maddirevula, Sateesh
- Cheng, Yong-Han H.
- Phelps, Ian G.
- Gesemann, Matthias
- Goel, Himanshu
- Birk, Ohad S.
- Alanzi, Talal
- Rawashdeh, Rifaat
- Khan, Arif O.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Neuhauss, Stephan C.F.
- Dobyns, William B.
- Alkuraya, Fowzan S.
- Roepman, Ronald
- Bachmann-Gagescu, Ruxandra
- Doherty, Dan
2017
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Human molecular genetics, 2017-08, Vol.26 (R1), p.R28-R36
2017
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