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Genetics in Medicine Open, 2024, Vol.2, p.101185
2024
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American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1249-1252
2018
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The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48
- Baker, Samuel W.
- Murrell, Jill R.
- Nesbitt, Addie I.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Yu, Zhenming
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wilkens, Alisha B.
- Bhoj, Elizabeth J.
- Guan, Qiaoning
- Dulik, Matthew C.
- Conlin, Laura K.
- Abou Tayoun, Ahmad N.
- Luo, Minjie
- Wu, Chao
- Cao, Kajia
- Sarmady, Mahdi
- Bedoukian, Emma C.
- Tarpinian, Jennifer
- Medne, Livija
- Skraban, Cara M.
- Deardorff, Matthew A.
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2019
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Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2380-2387
- McNeill, Alisdair
- Iovino, Emanuela
- Mansard, Luke
- Vache, Christel
- Baux, David
- Bedoukian, Emma
- Cox, Helen
- Dean, John
- Goudie, David
- Kumar, Ajith
- Newbury-Ecob, Ruth
- Fallerini, Chiara
- Renieri, Alessandra
- Lopergolo, Diego
- Mari, Francesca
- Blanchet, Catherine
- Willems, Marjolaine
- Roux, Anne-Francoise
- Pippucci, Tommaso
- Delpire, Eric
2020
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Human genetics, 2021-07, Vol.140 (7), p.1061-1076
- Li, Dong
- March, Michael E.
- Fortugno, Paola
- Cox, Liza L.
- Matsuoka, Leticia S.
- Monetta, Rosanna
- Seiler, Christoph
- Pyle, Louise C.
- Bedoukian, Emma C.
- Sánchez-Soler, María José
- Caluseriu, Oana
- Grand, Katheryn
- Tam, Allison
- Aycinena, Alicia R. P.
- Camerota, Letizia
- Guo, Yiran
- Sleiman, Patrick
- Callewaert, Bert
- Kumps, Candy
- Dheedene, Annelies
- Buckley, Michael
- Kirk, Edwin P.
- Turner, Anne
- Kamien, Benjamin
- Patel, Chirag
- Wilson, Meredith
- Roscioli, Tony
- Christodoulou, John
- Cox, Timothy C.
- Zackai, Elaine H.
- Brancati, Francesco
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2021
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Genetics in medicine, 2019-09, Vol.21 (9), p.2007-2014
- Wooderchak-Donahue, Whitney L.
- Akay, Gulsen
- Whitehead, Kevin
- Briggs, Eric
- Stevenson, David A.
- O’Fallon, Brendan
- Velinder, Matthew
- Farrell, Andrew
- Shen, Wei
- Bedoukian, Emma
- Skrabann, Cara M.
- Antaya, Richard J.
- Henderson, Kate
- Pollak, Jeffrey
- Treat, James
- Day, Ronald
- Jacher, Joseph E.
- Hannibal, Mark
- Bontempo, Kelly
- Marth, Gabor
- Bayrak-Toydemir, Pinar
- McDonald, Jamie
2019
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American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2926-2938
2020
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Genetics in medicine, 2017-06, Vol.19 (6), p.643-651
2017
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Proceedings of the National Academy of Sciences - PNAS, 2019-02, Vol.116 (9), p.3662-3667
2019
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American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2758-2762
2017
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American journal of human genetics, 2020-01, Vol.106 (1), p.121-128
- Hughes, Joel J.
- Alkhunaizi, Ebba
- Kruszka, Paul
- Pyle, Louise C.
- Grange, Dorothy K.
- Berger, Seth I.
- Payne, Katelyn K.
- Masser-Frye, Diane
- Hu, Tommy
- Christie, Michelle R.
- Clegg, Nancy J.
- Everson, Joshua L.
- Martinez, Ariel F.
- Walsh, Laurence E.
- Bedoukian, Emma
- Jones, Marilyn C.
- Harris, Catharine Jean
- Riedhammer, Korbinian M.
- Choukair, Daniela
- Fechner, Patricia Y.
- Rutter, Meilan M.
- Hufnagel, Sophia B.
- Roifman, Maian
- Kletter, Gad B.
- Delot, Emmanuele
- Vilain, Eric
- Lipinski, Robert J.
- Vezina, Chad M.
- Muenke, Maximilian
- Chitayat, David
2020
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Ophthalmic genetics, 2022-08, Vol.43 (4), p.1-560
2022
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American journal of human genetics, 2023-06, Vol.110 (6), p.998-1007
- Schönauer, Ria
- Jin, Wenjun
- Findeisen, Christin
- Valenzuela, Irene
- Devlin, Laura Alice
- Murrell, Jill
- Bedoukian, Emma C.
- Pöschla, Linda
- Hantmann, Elena
- Riedhammer, Korbinian M.
- Hoefele, Julia
- Platzer, Konrad
- Biemann, Ronald
- Campeau, Philipp M.
- Münch, Johannes
- Heyne, Henrike
- Hoffmann, Anne
- Ghosh, Adhideb
- Sun, Wenfei
- Dong, Hua
- Noé, Falko
- Wolfrum, Christian
- Woods, Emily
- Parker, Michael J.
- Neatu, Ruxandra
- Le Guyader, Gwenael
- Bruel, Ange-Line
- Perrin, Laurence
- Spiewak, Helena
- Missotte, Isabelle
- Fourgeaud, Melanie
- Michaud, Vincent
- Lacombe, Didier
- Paolucci, Sarah A.
- Buchan, Jillian G.
- Glissmeyer, Margaret
- Popp, Bernt
- Blüher, Matthias
- Sayer, John A.
- Halbritter, Jan
2023
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Genetics in medicine, 2020-02, Vol.22 (2), p.423-426
2020
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Journal of neuro-ophthalmology, 2023-03, Vol.43 (1), p.110-115
2023
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Genetics in medicine, 2020-08, Vol.22 (8), p.1338-1347
- Zhang, Li Xin
- Lemire, Gabrielle
- Gonzaga-Jauregui, Claudia
- Molidperee, Sirinart
- Galaz-Montoya, Carolina
- Liu, David S
- Verloes, Alain
- Shillington, Amelle G
- Izumi, Kosuke
- Ritter, Alyssa L
- Keena, Beth
- Zackai, Elaine
- Li, Dong
- Bhoj, Elizabeth
- Tarpinian, Jennifer M
- Bedoukian, Emma
- Kukolich, Mary K
- Innes, A Micheil
- Ediae, Grace U
- Sawyer, Sarah L
- Nair, Karippoth Mohandas
- Soumya, Para Chottil
- Subbaraman, Kinattinkara R
- Probst, Frank J
- Bassetti, Jennifer A
- Sutton, Reid V
- Gibbs, Richard A
- Brown, Chester
- Boone, Philip M
- Holm, Ingrid A
- Tartaglia, Marco
- Ferrero, Giovanni Battista
- Niceta, Marcello
- Dentici, Maria Lisa
- Radio, Francesca Clementina
- Keren, Boris
- Wells, Constance F
- Coubes, Christine
- Laquerrière, Annie
- Aziza, Jacqueline
- Dubucs, Charlotte
- Nampoothiri, Sheela
- Mowat, David
- Patel, Millan S
- Bracho, Ana
- Cammarata-Scalisi, Francisco
- Gezdirici, Alper
- Fernandez-Jaen, Alberto
- Hauser, Natalie
- Zarate, Yuri A
- Bosanko, Katherine A
- Dieterich, Klaus
- Carey, John C
- Chong, Jessica X
- Nickerson, Deborah A
- Bamshad, Michael J
- Lee, Brendan H
- Yang, Xiang-Jiao
- Lupski, James R
- Campeau, Philippe M
2020
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American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1058-1062
2019
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Brain sciences, 2021-07, Vol.11 (7), p.931
2021
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American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2523-2530
2016
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Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608
2018
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Retinal cases & brief reports, 2022-05, Vol.16 (3), p.385
2022
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Molecular vision, 2017-10, Vol.23, p.695-706
2017
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The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.274-286
- Murrell, Jill R
- Nesbitt, Addie May I
- Baker, Samuel W
- Pechter, Kieran B
- Balciuniene, Jorune
- Zhao, Xiaonan
- Denenberg, Elizabeth H
- DeChene, Elizabeth T
- Wu, Chao
- Jayaraman, Pushkala
- Cao, Kajia
- Gonzalez, Michael
- Devoto, Marcella
- Testori, Alessandro
- Monos, John D
- Dulik, Matthew C
- Conlin, Laura K
- Luo, Minjie
- McDonald Gibson, Kristin
- Guan, Qiaoning
- Sarmady, Mahdi
- Bhoj, Elizabeth
- Helbig, Ingo
- Zackai, Elaine H
- Bedoukian, Emma C
- Wilkens, Alisha
- Tarpinian, Jennifer
- Izumi, Kosuke
- Skraban, Cara M
- Deardorff, Matthew A
- Medne, Livija
- Krantz, Ian D
- Krock, Bryan L
- Santani, Avni B
2022
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Clinical ophthalmology (Auckland, N.Z.), 2021-01, Vol.15, p.939-952
2021
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American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1890-1896
- Ritter, Alyssa L.
- McDougall, Carey
- Skraban, Cara
- Medne, Livija
- Bedoukian, Emma C.
- Asher, Stephanie B.
- Balciuniene, Jorune
- Campbell, Colleen D.
- Baker, Samuel W.
- Denenberg, Elizabeth H.
- Mazzola, Sarah
- Fiordaliso, Sarah K.
- Krantz, Ian D.
- Kaplan, Paige
- Ierardi‐Curto, Lynne
- Santani, Avni B.
- Zackai, Elaine H.
- Izumi, Kosuke
2018
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