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The Journal of biological chemistry, 2015-09, Vol.290 (37), p.22325-22336
2015
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PLoS biology, 2018-08, Vol.16 (8), p.e2004624-e2004624
2018
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Nature communications, 2020-08, Vol.11 (1), p.4319-4319, Article 4319
2020
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Science advances, 2020-01, Vol.6 (4), p.eaax0021
- Yan, Kezhi
- Rousseau, Justine
- Machol, Keren
- Cross, Laura A
- Agre, Katherine E
- Gibson, Cynthia Forster
- Goverde, Anne
- Engleman, Kendra L
- Verdin, Hannah
- De Baere, Elfride
- Potocki, Lorraine
- Zhou, Dihong
- Cadieux-Dion, Maxime
- Bellus, Gary A
- Wagner, Monisa D
- Hale, Rebecca J
- Esber, Natacha
- Riley, Alan F
- Solomon, Benjamin D
- Cho, Megan T
- McWalter, Kirsty
- Eyal, Roy
- Hainlen, Meagan K
- Mendelsohn, Bryce A
- Porter, Hillary M
- Lanpher, Brendan C
- Lewis, Andrea M
- Savatt, Juliann
- Thiffault, Isabelle
- Callewaert, Bert
- Campeau, Philippe M
- Yang, Xiang-Jiao
2020
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Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100845-100845, Article 100845
2022
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BMC medicine, 2021-11, Vol.19 (1), p.1-288, Article 288
- Haverfield, Eden V
- Esplin, Edward D
- Aguilar, Sienna J
- Hatchell, Kathryn E
- Ormond, Kelly E
- Hanson-Kahn, Andrea
- Atwal, Paldeep S
- Macklin-Mantia, Sarah
- Hines, Stephanie
- Sak, Caron W.-M
- Tucker, Steven
- Bleyl, Steven B
- Hulick, Peter J
- Gordon, Ora K
- Velsher, Lea
- Gu, Jessica Y. J
- Weissman, Scott M
- Kruisselbrink, Teresa
- Abel, Christopher
- Kettles, Michele
- Slavotinek, Anne
- Mendelsohn, Bryce A
- Green, Robert C
- Aradhya, Swaroop
- Nussbaum, Robert L
2021
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Npj genomic medicine, 2021-09, Vol.6 (1), p.77-77, Article 77
- Shieh, Joseph T.
- Penon-Portmann, Monica
- Wong, Karen H. Y.
- Levy-Sakin, Michal
- Verghese, Michelle
- Slavotinek, Anne
- Gallagher, Renata C.
- Mendelsohn, Bryce A.
- Tenney, Jessica
- Beleford, Daniah
- Perry, Hazel
- Chow, Stephen K.
- Sharo, Andrew G.
- Brenner, Steven E.
- Qi, Zhongxia
- Yu, Jingwei
- Klein, Ophir D.
- Martin, David
- Kwok, Pui-Yan
- Boffelli, Dario
2021
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Plastic and reconstructive surgery. Global open, 2021-01, Vol.9 (1), p.e3351-e3351
2021
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Proceedings of the National Academy of Sciences - PNAS, 2008-03, Vol.105 (10), p.3909-3914
2008
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Annals of clinical and translational neurology, 2020-01, Vol.7 (1), p.83-93
- Mendes, Marisa I.
- Green, Lydia M. C.
- Bertini, Enrico
- Tonduti, Davide
- Aiello, Chiara
- Smith, Desiree
- Salsano, Ettore
- Beerepoot, Shanice
- Hertecant, Jozef
- Spiczak, Sarah
- Livingston, John H.
- Emrick, Lisa
- Fraser, Jamie
- Russell, Laura
- Bernard, Genevieve
- Magri, Stefania
- Di Bella, Daniela
- Taroni, Franco
- Koenig, Mary K.
- Moroni, Isabella
- Cappuccio, Gerarda
- Brunetti‐Pierri, Nicola
- Rhee, Jullie
- Mendelsohn, Bryce A.
- Helbig, Ingo
- Helbig, Katherine
- Muhle, Hiltrud
- Ismayl, Omar
- Vanderver, Adeline L.
- Salomons, Gajja S.
- Knaap, Marjo S.
- Wolf, Nicole I.
2020
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Brain (London, England : 1878), 2020-02, Vol.143 (2), p.503-511
2020
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Genetics in medicine, 2019-03, Vol.21 (3), p.762-762
2019
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Npj genomic medicine, 2021-10, Vol.6 (1), p.88-88, Article 88
- Shieh, Joseph T.
- Penon-Portmann, Monica
- Wong, Karen H. Y.
- Levy-Sakin, Michal
- Verghese, Michelle
- Slavotinek, Anne
- Gallagher, Renata C.
- Mendelsohn, Bryce A.
- Tenney, Jessica
- Beleford, Daniah
- Perry, Hazel
- Chow, Stephen K.
- Sharo, Andrew G.
- Brenner, Steven E.
- Qi, Zhongxia
- Yu, Jingwei
- Klein, Ophir D.
- Martin, David
- Kwok, Pui-Yan
- Boffelli, Dario
2021
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The New England journal of medicine, 2016-12, Vol.375 (22), p.2165-2176
2016
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European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1497-1508
2020
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American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1492-1501
2023
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American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1412-1417
2023
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Human molecular genetics, 2017-12, Vol.26 (24), p.4849-4860
- Slavotinek, Anne
- Risolino, Maurizio
- Losa, Marta
- Cho, Megan T
- Monaghan, Kristin G
- Schneidman-Duhovny, Dina
- Parisotto, Sarah
- Herkert, Johanna C
- Stegmann, Alexander P A
- Miller, Kathryn
- Shur, Natasha
- Chui, Jacqueline
- Muller, Eric
- DeBrosse, Suzanne
- Szot, Justin O
- Chapman, Gavin
- Pachter, Nicholas S
- Winlaw, David S
- Mendelsohn, Bryce A
- Dalton, Joline
- Sarafoglou, Kyriakie
- Karachunski, Peter I
- Lewis, Jane M
- Pedro, Helio
- Dunwoodie, Sally L
- Selleri, Licia
- Shieh, Joseph
2017
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Genetics (Austin), 2016-08, Vol.203 (4), p.1693-1707
2016
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American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.2079-2083
2014
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Human mutation, 2019-12, Vol.40 (12), p.2270-2285
- Frints, Suzanna G.M.
- Hennig, Friederike
- Colombo, Roberto
- Jacquemont, Sebastien
- Terhal, Paulien
- Zimmerman, Holly H.
- Hunt, David
- Mendelsohn, Bryce A.
- Kordaß, Ulrike
- Webster, Richard
- Sinnema, Margje
- Abdul‐Rahman, Omar
- Suckow, Vanessa
- Fernández‐Jaén, Alberto
- Roozendaal, Kees
- Stevens, Servi J.C.
- Macville, Merryn V.E.
- Al‐Nasiry, Salwan
- Gassen, Koen
- Utzig, Norbert
- Koudijs, Suzanne M.
- McGregor, Lesley
- Maas, Saskia M.
- Baralle, Diana
- Dixit, Abhijit
- Wieacker, Peter
- Lee, Marcus
- Lee, Arthur S.
- Engle, Elizabeth C.
- Houge, Gunnar
- Gradek, Gyri A.
- Douglas, Andrew G.L.
- Longman, Cheryl
- Joss, Shelagh
- Velasco, Danita
- Hennekam, Raoul C.
- Hirata, Hiromi
- Kalscheuer, Vera M.
2019
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BMC medicine, 2021-08, Vol.19 (1), p.1-199, Article 199
- Haverfield, Eden V
- Esplin, Edward D
- Aguilar, Sienna J
- Hatchell, Kathryn E
- Ormond, Kelly E
- Hanson-Kahn, Andrea
- Atwal, Paldeep S
- Macklin-Mantia, Sarah
- Hines, Stephanie
- Sak, Caron W.-M
- Tucker, Steven
- Bleyl, Steven B
- Hulick, Peter J
- Gordon, Ora K
- Velsher, Lea
- Gu, Jessica Y. J
- Weissman, Scott M
- Kruisselbrink, Teresa
- Abel, Christopher
- Kettles, Michele
- Slavotinek, Anne
- Mendelsohn, Bryce A
- Green, Robert C
- Aradhya, Swaroop
- Nussbaum, Robert L
2021
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American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63445-n/a
- Sewani, Soha
- Azamian, Mahshid S.
- Mendelsohn, Bryce A.
- Mau‐Them, Frederic Tran
- Réda, Manon
- Nambot, Sophie
- Isidor, Bertrand
- Smagt, Jasper J.
- Shen, Joseph J.
- Shillington, Amelle
- White, Lori
- Elloumi, Houda Zghal
- Baker, Peter R.
- Svihovec, Shayna
- Brown, Kathleen
- Koopman‐Keemink, Yvonne
- Hoffer, Mariette J. V.
- Lakeman, Inge M. M.
- Brischoux‐Boucher, Elise
- Kinali, Maria
- Zhao, Xiaonan
- Lalani, Seema R.
- Scott, Daryl A.
2024
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American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.513-520
2020
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Journal of inherited metabolic disease, 2022-11, Vol.45 (6), p.1106-1117
- Katler, Quinton S.
- Stepien, Karolina M.
- Paull, Nathan
- Patel, Sneh
- Adams, Michael
- Balci, Mehmet Cihan
- Berry, Gerard T.
- Bosch, Annet M.
- DeLaO, Angela
- Demirbas, Didem
- Edman, Julianna
- Ficicioglu, Can
- Goff, Melanie
- Hacker, Stephanie
- Knerr, Ina
- Lancaster, Kristen
- Li, Hong
- Mendelsohn, Bryce A.
- Nichols, Brandi
- Rezende Pinto, Wladimir Bocca Vieira
- Rocha, Júlio César
- Rubio‐Gozalbo, M. Estela
- Saad‐Naguib, Michael
- Scholl‐Buergi, Sabine
- Searcy, Sarah
- Souza, Paulo Victor Sgobbi
- Wittenauer, Angela
- Fridovich‐Keil, Judith L.
2022
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