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Lancet neurology, 2021-04, Vol.20 (4), p.284-293
- Day, John W
- Finkel, Richard S
- Chiriboga, Claudia A
- Connolly, Anne M
- Crawford, Thomas O
- Darras, Basil T
- Iannaccone, Susan T
- Kuntz, Nancy L
- Peña, Loren D M
- Shieh, Perry B
- Smith, Edward C
- Kwon, Jennifer M
- Zaidman, Craig M
- Schultz, Meredith
- Feltner, Douglas E
- Tauscher-Wisniewski, Sitra
- Ouyang, Haojun
- Chand, Deepa H
- Sproule, Douglas M
- Macek, Thomas A
- Mendell, Jerry R
2021
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Neurology, 2022-08, Vol.99 (5), p.e536
- Dimachkie, Mazen M
- Barohn, Richard J
- Byrne, Barry
- Goker-Alpan, Ozlem
- Kishnani, Priya S
- Ladha, Shafeeq
- Laforêt, Pascal
- Mengel, Karl Eugen
- Peña, Loren D M
- Sacconi, Sabrina
- Straub, Volker
- Trivedi, Jaya
- Van Damme, Philip
- van der Ploeg, Ans T
- Vissing, John
- Young, Peter
- Haack, Kristina An
- Foster, Meredith
- Gilbert, Jane M
- Miossec, Patrick
- Vitse, Olivier
- Zhou, Tianyue
- Schoser, Benedikt
2022
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Cardiology in the young, 2022-03, Vol.32 (3), p.364-373
2022
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Genetics in medicine, 2023-06, Vol.25 (6), p.100831-100831, Article 100831
2023
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Journal of neuromuscular diseases, 2022-01, Vol.9 (6), p.713-730
2022
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JCI insight, 2024-05, Vol.9 (9)
- Virolainen, Samuel J
- Satish, Latha
- Biagini, Jocelyn M
- Chaib, Hassan
- Chang, Wan Chi
- Dexheimer, Phillip J
- Dixon, Michael R
- Dunn, Katelyn
- Fletcher, David
- Forney, Carmy
- Granitto, Marissa
- Hestand, Matthew S
- Hurd, Makenna
- Kauffman, Kenneth
- Lawson, Lucinda
- Martin, Lisa J
- Peña, Loren Dm
- Phelan, Kieran J
- Shook, Molly
- Weirauch, Matthew T
- Khurana Hershey, Gurjit K
- Kottyan, Leah C
2024
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Journal of genetic counseling, 2016-10, Vol.25 (5), p.1019-1031
2016
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100771, Article 100771
2023
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European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.558-566
2024
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The EMBO journal, 2018-12, Vol.37 (23), p.n/a
- Shashi, Vandana
- Magiera, Maria M
- Klein, Dennis
- Zaki, Maha
- Schoch, Kelly
- Rudnik‐Schöneborn, Sabine
- Norman, Andrew
- Lopes Abath Neto, Osorio
- Dusl, Marina
- Yuan, Xidi
- Bartesaghi, Luca
- De Marco, Patrizia
- Alfares, Ahmed A
- Marom, Ronit
- Arold, Stefan T
- Guzmán‐Vega, Francisco J
- Pena, Loren DM
- Smith, Edward C
- Steinlin, Maja
- Babiker, Mohamed OE
- Mohassel, Payam
- Foley, A Reghan
- Donkervoort, Sandra
- Kaur, Rupleen
- Ghosh, Partha S
- Stanley, Valentina
- Musaev, Damir
- Nava, Caroline
- Mignot, Cyril
- Keren, Boris
- Scala, Marcello
- Tassano, Elisa
- Picco, Paolo
- Doneda, Paola
- Fiorillo, Chiara
- Issa, Mahmoud Y
- Alassiri, Ali
- Alahmad, Ahmed
- Gerard, Amanda
- Liu, Pengfei
- Yang, Yaping
- Ertl‐Wagner, Birgit
- Kranz, Peter G
- Wentzensen, Ingrid M
- Stucka, Rolf
- Stong, Nicholas
- Allen, Andrew S
- Goldstein, David B
- Schoser, Benedikt
- Rösler, Kai M
- Alfadhel, Majid
- Capra, Valeria
- Chrast, Roman
- Strom, Tim M
- Kamsteeg, Erik‐Jan
- Bönnemann, Carsten G
- Gleeson, Joseph G
- Martini, Rudolf
- Janke, Carsten
- Senderek, Jan
2018
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Human molecular genetics, 2018-07, Vol.27 (14), p.2454-2465
- Liu, Ning
- Schoch, Kelly
- Luo, Xi
- Pena, Loren D M
- Bhavana, Venkata Hemanjani
- Kukolich, Mary K
- Stringer, Sarah
- Powis, Zöe
- Radtke, Kelly
- Mroske, Cameron
- Deak, Kristen L
- McDonald, Marie T
- McConkie-Rosell, Allyn
- Markert, M Louise
- Kranz, Peter G
- Stong, Nicholas
- Need, Anna C
- Bick, David
- Amaral, Michelle D
- Worthey, Elizabeth A
- Levy, Shawn
- Wangler, Michael F
- Bellen, Hugo J
- Shashi, Vandana
- Yamamoto, Shinya
2018
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Neuromuscular disorders : NMD, 2019-03, Vol.29 (3), p.167-186
- Pena, Loren D.M.
- Barohn, Richard J.
- Byrne, Barry J.
- Desnuelle, Claude
- Goker-Alpan, Ozlem
- Ladha, Shafeeq
- Laforêt, Pascal
- Mengel, Karl Eugen
- Pestronk, Alan
- Pouget, Jean
- Schoser, Benedikt
- Straub, Volker
- Trivedi, Jaya
- Van Damme, Philip
- Vissing, John
- Young, Peter
- Kacena, Katherine
- Shafi, Raheel
- Thurberg, Beth L.
- Culm-Merdek, Kerry
- van der Ploeg, Ans T.
2019
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Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.272-281
2016
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Genetics in Medicine Open, 2024, Vol.2, p.101029, Article 101029
2024
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Journal of genetic counseling, 2018-08, Vol.27 (4), p.935-946
2018
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Genetics in medicine, 2019-11, Vol.21 (11), p.2543-2551
2019
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Frontiers in genetics, 2022-07, Vol.13, p.887698-887698
2022
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The Journal of pediatrics, 2017-01, Vol.180, p.200-205.e8
2017
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Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1321-1332
- Johnstone, Devon L.
- Nguyen, Thi Tuyet Mai
- Zambonin, Jessica
- Kernohan, Kristin D.
- St‐Denis, Anik
- Baratang, Nissan V.
- Hartley, Taila
- Geraghty, Michael T.
- Richer, Julie
- Majewski, Jacek
- Bareke, Eric
- Guerin, Andrea
- Pendziwiat, Manuela
- Pena, Loren D. M.
- Braakman, Hilde M. H.
- Gripp, Karen W.
- Edmondson, Andrew C.
- He, Miao
- Spillmann, Rebecca C.
- Eklund, Erik A.
- Bayat, Allan
- McMillan, Hugh J.
- Boycott, Kym M.
- Campeau, Philippe M.
2020
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Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.115-123
- van der Ploeg, Ans
- Carlier, Pierre G.
- Carlier, Robert-Yves
- Kissel, John T.
- Schoser, Benedikt
- Wenninger, Stephan
- Pestronk, Alan
- Barohn, Richard J.
- Dimachkie, Mazen M.
- Goker-Alpan, Ozlem
- Mozaffar, Tahseen
- Pena, Loren D.M.
- Simmons, Zachary
- Straub, Volker
- Guglieri, Michela
- Young, Peter
- Boentert, Matthias
- Baudin, Pierre-Yves
- Wens, Stephan
- Shafi, Raheel
- Bjartmar, Carl
- Thurberg, Beth L.
2016
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Genetics in medicine, 2018-10, Vol.20 (10), p.1284-1294
2018
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American journal of human genetics, 2018-08, Vol.103 (2), p.245-260
- Marcogliese, Paul C.
- Rosenfeld, Jill A.
- Koenig, Mary Kay
- Chen, Agnes H.
- Dickson, Patricia I.
- Vera, Moin U.
- Salamon, Noriko
- Infante, Elena
- Poppe, Bruce
- Chung, Hyung-Lok
- Zuo, Zhongyuan
- Kanca, Oguz
- Xia, Fan
- Smith, Edward C.
- Jasien, Joan
- Kansagra, Sujay
- Lark, Robert
- Riley, Kacie
- Golden-Grant, Katie
- Terryn, Wim
- Adams, David R.
- Allard, Patrick
- Bacino, Carlos A.
- Bick, David P.
- Bostwick, Bret L.
- Brush, Matthew
- Burrage, Lindsay C.
- Clark, Gary D.
- Cooper, Cynthia M.
- D’Souza, Precilla
- Davids, Mariska
- Dell’Angelica, Esteban C.
- Dhar, Shweta U.
- Dillon, Ani
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Esteves, Cecilia
- Fogel, Brent L.
- Gahl, William A.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Hamid, Rizwan
- Hanchard, Neil A.
- Howerton, Ellen M.
- Jiang, Yong-hui
- Johnston, Jean M.
- Krier, Joel B.
- Lalani, Seema R.
- Lau, C. Christopher
- Lee, Brendan H.
- Levy, Shawn E.
- Lewis, Richard A.
- Lipson, Allen
- Loo, Sandra K.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Manolio, Teri A.
- Martínez-Agosto, Julian A.
- McConkie-Rosell, Allyn
- McCormack, Colleen E.
- Morimoto, Marie
- Mulvihill, John J.
- Muzny, Donna M.
- Nelson, Stan F.
- Newberry, J. Scott
- Nicholas, Sarah K.
- Pallais, J. Carl
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Parker, Neil H.
- Phillips, John A.
- Posey, Jennifer E.
- Postlethwait, John H.
- Potocki, Lorraine
- Robertson, Amy K.
- Sampson, Jacinda B.
- Schoch, Kelly
- Shashi, Vandana
- Smith, Kevin S.
- Splinter, Kimberly
- Stoler, Joan M.
- Sweetser, David A.
- Toro, Camilo
- Urv, Tiina K.
- Vilain, Eric
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walley, Nicole M.
- Walsh, Chris A.
- Waters, Katrina M.
- Westerfield, Monte
- Yu, Guoyun
- Zheng, Allison
- Yamamoto, Shinya
- Wangler, Michael F.
- Lee, Brendan
- Nelson, Stanley F.
- Goldstein, David B.
- Bellen, Hugo J.
2018
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Journal of Virology, 2001-10, Vol.75 (20), p.10005-10013
2001
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Molecular cytogenetics, 2022-03, Vol.15 (1), p.10-10, Article 10
2022
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American journal of human genetics, 2019-01, Vol.104 (1), p.164-178
- Sullivan, Jennifer A.
- Shashi, Vandana
- Jiang, Yong-hui
- Stong, Nicholas
- Fiala, Elise
- Willing, Marcia
- Pfundt, Rolph
- Kleefstra, Tjitske
- Orellana, Carmen
- Monfort, Sandra
- Roscioli, Tony
- Jones, Wendy D.
- Sebastian, Jessica
- Sonal, Desai
- Sakkubai, Naidu
- Faivre, Laurence
- Krantz, Ian D.
- Adams, David R.
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Beggs, Alan H.
- Bican, Anna
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Chen, Shan
- Coakley, Terra R.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dillon, Ani
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Eskin, Ascia
- Friedman, Noah D.
- Glanton, Emily
- Godfrey, Rena A.
- Gould, Sarah E.
- Gropman, Andrea L.
- Hom, Jason
- Jacob, Howard J.
- Jain, Mahim
- Kohane, Isaac S.
- Krieg, Elizabeth L.
- Lau, C. Christopher
- Lazar, Jozef
- Lee, Brendan H.
- Lee, Hane
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martínez-Agosto, Julian A.
- Marwaha, Shruti
- May, Thomas
- McCray, Alexa T.
- Might, Matthew
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Pallais, J. Carl
- Pena, Loren D.M.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Rosenfeld, Jill A.
- Sharma, Prashant
- Signer, Rebecca
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Splinter, Kimberly
- Stoler, Joan M.
- Sweetser, David A.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Wahl, Colleen E.
- Waters, Katrina M.
- Westerfield, Monte
- Wise, Anastasia L.
- Worthey, Elizabeth A.
- Yang, Yaping
- Zastrow, Diane B.
- Campeau, Philippe M.
2019
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