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Genetics in medicine, 2015-09, Vol.17 (9), p.689-701
2015
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Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1397
- Parikh, Sumit
- Goldstein, Amy
- Karaa, Amel
- Koenig, Mary Kay
- Anselm, Irina
- Brunel-Guitton, Catherine
- Christodoulou, John
- Cohen, Bruce H
- Dimmock, David
- Enns, Gregory M
- Falk, Marni J
- Feigenbaum, Annette
- Frye, Richard E
- Ganesh, Jaya
- Griesemer, David
- Haas, Richard
- Horvath, Rita
- Korson, Mark
- Kruer, Michael C
- Mancuso, Michelangelo
- McCormack, Shana
- Raboisson, Marie Josee
- Reimschisel, Tyler
- Salvarinova, Ramona
- Saneto, Russell P
- Scaglia, Fernando
- Shoffner, John
- Stacpoole, Peter W
- Sue, Carolyn M
- Tarnopolsky, Mark
- Van Karnebeek, Clara
- Wolfe, Lynne A
- Cunningham, Zarazuela Zolkipli
- Rahman, Shamima
- Chinnery, Patrick F
2017
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The Journal of pediatrics, 2015-06, Vol.166 (6), p.1455-1461.e1
2015
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Nature communications, 2016-02, Vol.7 (1), p.10713-10713, Article 10713
- Gomez-Ospina, Natalia
- Potter, Carol J
- Xiao, Rui
- Manickam, Kandamurugu
- Kim, Mi-Sun
- Kim, Kang Ho
- Shneider, Benjamin L
- Picarsic, Jennifer L
- Jacobson, Theodora A
- Zhang, Jing
- He, Weimin
- Liu, Pengfei
- Knisely, A S
- Finegold, Milton J
- Muzny, Donna M
- Boerwinkle, Eric
- Lupski, James R
- Plon, Sharon E
- Gibbs, Richard A
- Eng, Christine M
- Yang, Yaping
- Washington, Gabriel C
- Porteus, Matthew H
- Berquist, William E
- Kambham, Neeraja
- Singh, Ravinder J
- Xia, Fan
- Enns, Gregory M
- Moore, David D
2016
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Journal of clinical medicine, 2017-05, Vol.6 (5), p.50
2017
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American journal of human genetics, 2016-10, Vol.99 (4), p.934-941
- Weiss, Karin
- Terhal, Paulien A.
- Cohen, Lior
- Bruccoleri, Michael
- Irving, Melita
- Martinez, Ariel F.
- Rosenfeld, Jill A.
- Machol, Keren
- Yang, Yaping
- Liu, Pengfei
- Walkiewicz, Magdalena
- Beuten, Joke
- Gomez-Ospina, Natalia
- Haude, Katrina
- Fong, Chin-To
- Enns, Gregory M.
- Bernstein, Jonathan A.
- Fan, Judith
- Gotway, Garrett
- Ghorbani, Mohammad
- van Gassen, Koen
- Monroe, Glen R.
- van Haaften, Gijs
- Basel-Vanagaite, Lina
- Yang, Xiang-Jiao
- Campeau, Philippe M.
- Muenke, Maximilian
2016
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PloS one, 2020-10, Vol.15 (10), p.e0240517-e0240517
2020
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American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010
- Petrovski, Slavé
- Küry, Sébastien
- Myers, Candace T.
- Anyane-Yeboa, Kwame
- Cogné, Benjamin
- Bialer, Martin
- Xia, Fan
- Hemati, Parisa
- Riviello, James
- Mehaffey, Michele
- Besnard, Thomas
- Becraft, Emily
- Wadley, Alexandrea
- Politi, Anya Revah
- Colombo, Sophie
- Zhu, Xiaolin
- Ren, Zhong
- Andrews, Ian
- Dudding-Byth, Tracy
- Schneider, Amy L.
- Wallace, Geoffrey
- Rosen, Aaron B.I.
- Schelley, Susan
- Enns, Gregory M.
- Corre, Pierre
- Dalton, Joline
- Mercier, Sandra
- Latypova, Xénia
- Schmitt, Sébastien
- Guzman, Edwin
- Moore, Christine
- Bier, Louise
- Heinzen, Erin L.
- Karachunski, Peter
- Shur, Natasha
- Grebe, Theresa
- Basinger, Alice
- Nguyen, Joanne M.
- Bézieau, Stéphane
- Wierenga, Klaas
- Bernstein, Jonathan A.
- Scheffer, Ingrid E.
- Rosenfeld, Jill A.
- Mefford, Heather C.
- Isidor, Bertrand
- Goldstein, David B.
2016
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-06, Vol.929, p.51-55
2013
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American journal of human genetics, 2013-03, Vol.92 (3), p.354-365
- Stevens, Elizabeth
- Carss, Keren J.
- Cirak, Sebahattin
- Foley, A. Reghan
- Torelli, Silvia
- Willer, Tobias
- Tambunan, Dimira E.
- Yau, Shu
- Brodd, Lina
- Sewry, Caroline A.
- Feng, Lucy
- Haliloglu, Goknur
- Orhan, Diclehan
- Dobyns, William B.
- Enns, Gregory M.
- Manning, Melanie
- Krause, Amanda
- Salih, Mustafa A.
- Walsh, Christopher A.
- Hurles, Matthew
- Campbell, Kevin P.
- Manzini, M. Chiara
- Stemple, Derek
- Lin, Yung-Yao
- Muntoni, Francesco
2013
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Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
- Enns, Gregory M
- Shashi, Vandana
- Bainbridge, Matthew
- Gambello, Michael J
- Zahir, Farah R
- Bast, Thomas
- Crimian, Rebecca
- Schoch, Kelly
- Platt, Julia
- Cox, Rachel
- Bernstein, Jonathan A
- Scavina, Mena
- Walter, Rhonda S
- Bibb, Audrey
- Jones, Melanie
- Hegde, Madhuri
- Graham, Brett H
- Need, Anna C
- Oviedo, Angelica
- Schaaf, Christian P
- Boyle, Sean
- Butte, Atul J
- Chen, Rui
- Chen, Rong
- Clark, Michael J
- Haraksingh, Rajini
- Cowan, Tina M
- He, Ping
- Langlois, Sylvie
- Zoghbi, Huda Y
- Snyder, Michael
- Gibbs, Richard A
- Freeze, Hudson H
- Goldstein, David B
2014
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Journal of pediatric gastroenterology and nutrition, 2015-12, Vol.61 (6), p.619-625
- Burton, Barbara K.
- Deegan, Patrick B.
- Enns, Gregory M.
- Guardamagna, Ornella
- Horslen, Simon
- Hovingh, Gerard K.
- Lobritto, Steve J.
- Malinova, Vera
- McLin, Valerie A.
- Raiman, Julian
- Di Rocco, Maja
- Santra, Saikat
- Sharma, Reena
- Sykut‐Cegielska, Jolanta
- Whitley, Chester B.
- Eckert, Stephen
- Valayannopoulos, Vassili
- Quinn, Anthony G.
2015
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International journal of neonatal screening, 2020-03, Vol.6 (1), p.16
2020
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PloS one, 2014-06, Vol.9 (6), p.e100001-e100001
2014
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Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (33), p.13552-13557
- Manoli, Irini
- Sysol, Justin R.
- Li, Lingli
- Houillier, Pascal
- Garone, Caterina
- Wang, Cindy
- Zerfas, Patricia M.
- Cusmano-Ozog, Kristina
- Young, Sarah
- Trivedi, Niraj S.
- Cheng, Jun
- Sloan, Jennifer L.
- Chandler, Randy J.
- Abu-Asab, Mones
- Tsokos, Maria
- Elkahloun, Abdel G.
- Rosen, Seymour
- Enns, Gregory M.
- Berry, Gerard T.
- Hoffmann, Victoria
- DiMauro, Salvatore
- Schnermann, Jurgen
- Venditti, Charles P.
2013
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Genetics in medicine, 2016-05, Vol.18 (5), p.452-458
- Jones, Simon A.
- Valayannopoulos, Vassili
- Schneider, Eugene
- Eckert, Stephen
- Banikazemi, Maryam
- Bialer, Martin
- Cederbaum, Stephen
- Chan, Alicia
- Dhawan, Anil
- Di Rocco, Maja
- Domm, Jennifer
- Enns, Gregory M.
- Finegold, David
- Gargus, J. Jay
- Guardamagna, Ornella
- Hendriksz, Christian
- Mahmoud, Iman G.
- Raiman, Julian
- Selim, Laila A.
- Whitley, Chester B.
- Zaki, Osama
- Quinn, Anthony G.
2016
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The Journal of pediatrics, 2017-02, Vol.181, p.80-85.e1
2017
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American journal of human genetics, 2012-02, Vol.90 (2), p.282-289
- Campeau, Philippe M.
- Kim, Jaeseung C.
- Lu, James T.
- Schwartzentruber, Jeremy A.
- Abdul-Rahman, Omar A.
- Schlaubitz, Silke
- Murdock, David M.
- Jiang, Ming-Ming
- Lammer, Edward J.
- Enns, Gregory M.
- Rhead, William J.
- Rowland, Jon
- Robertson, Stephen P.
- Cormier-Daire, Valérie
- Bainbridge, Matthew N.
- Yang, Xiang-Jiao
- Gingras, Marie-Claude
- Gibbs, Richard A.
- Rosenblatt, David S.
- Majewski, Jacek
- Lee, Brendan H.
2012
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Pediatric neurology, 2015-03, Vol.52 (3), p.361-365
2015
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Pediatric transplantation, 2016-09, Vol.20 (6), p.770-773
2016
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Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (10), p.3941-3945
2009
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Molecular genetics and metabolism, 2015-04, Vol.114 (4), p.557-563
2015
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PLoS computational biology, 2009-04, Vol.5 (4), p.e1000374-e1000374
2009
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Seminars in pediatric neurology, 2008-09, Vol.15 (3), p.132-139
2008
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Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.3-10
2008
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