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Human mutation, 2015-10, Vol.36 (10), p.915-921
- Philippakis, Anthony A.
- Azzariti, Danielle R.
- Beltran, Sergi
- Brookes, Anthony J.
- Brownstein, Catherine A.
- Brudno, Michael
- Brunner, Han G.
- Buske, Orion J.
- Carey, Knox
- Doll, Cassie
- Dumitriu, Sergiu
- Dyke, Stephanie O.M.
- den Dunnen, Johan T.
- Firth, Helen V.
- Gibbs, Richard A.
- Girdea, Marta
- Gonzalez, Michael
- Haendel, Melissa A.
- Hamosh, Ada
- Holm, Ingrid A.
- Huang, Lijia
- Hurles, Matthew E.
- Hutton, Ben
- Krier, Joel B.
- Misyura, Andriy
- Mungall, Christopher J.
- Paschall, Justin
- Paten, Benedict
- Robinson, Peter N.
- Schiettecatte, François
- Sobreira, Nara L.
- Swaminathan, Ganesh J.
- Taschner, Peter E.
- Terry, Sharon F.
- Washington, Nicole L.
- Züchner, Stephan
- Boycott, Kym M.
- Rehm, Heidi L.
2015
Link zum Volltext
Genetics in medicine, 2019-07, Vol.21 (7), p.1585-1593
- Deisseroth, Cole A.
- Birgmeier, Johannes
- Bodle, Ethan E.
- Kohler, Jennefer N.
- Matalon, Dena R.
- Nazarenko, Yelena
- Genetti, Casie A.
- Brownstein, Catherine A.
- Schmitz-Abe, Klaus
- Schoch, Kelly
- Cope, Heidi
- Signer, Rebecca
- Martinez-Agosto, Julian A.
- Shashi, Vandana
- Beggs, Alan H.
- Wheeler, Matthew T.
- Bernstein, Jonathan A.
- Bejerano, Gill
2019
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American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63509-n/a
2024
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Neurology, 2022-10, Vol.99 (14), p.e1511
- Vezyroglou, Aikaterini
- Akilapa, Rhoda
- Barwick, Katy
- Koene, Saskia
- Brownstein, Catherine A
- Holder-Espinasse, Muriel
- Fry, Andrew E
- Németh, Andrea H
- Tofaris, George K
- Hay, Eleanor
- Hughes, Imelda
- Mansour, Sahar
- Mordekar, Santosh R
- Splitt, Miranda
- Turnpenny, Peter D
- Demetriou, Demetria
- Koopmann, Tamara T
- Ruivenkamp, Claudia A L
- Agrawal, Pankaj B
- Carr, Lucinda
- Clowes, Virginia
- Ghali, Neeti
- Holder, Susan Elizabeth
- Radley, Jessica
- Male, Alison
- Sisodiya, Sanjay M
- Kurian, Manju A
- Cross, J Helen
- Balasubramanian, Meena
2022
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Genetics in medicine, 2022-04, Vol.24 (4), p.839-850
2022
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Epilepsia (Copenhagen), 2018-04, Vol.59 (4), p.e56-e62
2018
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Molecular psychiatry, 2021-05, Vol.26 (5), p.1706-1718
- Brownstein, Catherine A
- Smith, Richard S
- Rodan, Lance H
- Gorman, Mark P
- Hojlo, Margaret A
- Garvey, Emily A
- Li, Jianqiao
- Cabral, Kristin
- Bowen, Joshua J
- Rao, Abhijit S
- Genetti, Casie A
- Carroll, Devon
- Deaso, Emma A
- Agrawal, Pankaj B
- Rosenfeld, Jill A
- Bi, Weimin
- Howe, Jennifer
- Stavropoulos, Dimitri J
- Hansen, Adam W
- Hamoda, Hesham M
- Pinard, Ferne
- Caracansi, Annmarie
- Walsh, Christopher A
- D'Angelo, Eugene J
- Beggs, Alan H
- Zarrei, Mehdi
- Gibbs, Richard A
- Scherer, Stephen W
- Glahn, David C
- Gonzalez-Heydrich, Joseph
2021
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2623-2629
2018
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Muscle & nerve, 2017-05, Vol.55 (5), p.761-765
2017
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American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2122-2131
2015
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Clinical orthopaedics and related research, 2010-10, Vol.468 (10), p.2581-2585
2010
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American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1299-1303
2019
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The Journal of clinical investigation, 2015-01, Vol.125 (1), p.456-457
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2015
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Human mutation, 2015-10, Vol.36 (10), p.985-988
2015
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American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1165-1173
- Brownstein, Catherine A.
- Kleiman, Robin J.
- Engle, Elizabeth C.
- Towne, Meghan C.
- D'Angelo, Eugene J.
- Yu, Timothy W.
- Beggs, Alan H.
- Picker, Jonathan
- Fogler, Jason M.
- Carroll, Devon
- Schmitt, Rachel C. O.
- Wolff, Robert R.
- Shen, Yiping
- Lip, Va
- Bilguvar, Kaya
- Kim, April
- Tembulkar, Sahil
- O'Donnell, Kyle
- Gonzalez-Heydrich, Joseph
2016
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Circulation. Genomic and precision medicine, 2020-06, Vol.13 (3), p.e002843-e002843
2020
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The New England journal of medicine, 2008-01, Vol.358 (5), p.445-447
2008
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Personalized medicine, 2014-08, Vol.11 (6), p.569-579
2014
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JIMD Reports, Volume 39, 2018, Vol.39, p.45-54
2018
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American journal of medical genetics. Part A, 2024-05, Vol.194 (5)
2024
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The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2014
Link zum Volltext
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
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American journal of medical genetics. Part A, 2018-08, Vol.176 (12), p.2623-2629
2018
Link zum Volltext
Circulation. Genomic and precision medicine, 2020, Vol.13 (3), p.e002843-e002843
2020
Link zum Volltext
Nature (London), 2013-04, Vol.496 (7446), p.504-507
2013
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