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Disease models & mechanisms, 2024-06, Vol.17 (6)
2024
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Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1011918-1011918
2022
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Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-271, Article 271
2023
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Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725
- Dworschak, Gabriel C
- Punetha, Jaya
- Kalanithy, Jeshurun C
- Mingardo, Enrico
- Erdem, Haktan B
- Akdemir, Zeynep C
- Karaca, Ender
- Mitani, Tadahiro
- Marafi, Dana
- Fatih, Jawid M
- Jhangiani, Shalini N
- Hunter, Jill V
- Dakal, Tikam Chand
- Dhabhai, Bhanupriya
- Dabbagh, Omar
- Alsaif, Hessa S
- Alkuraya, Fowzan S
- Maroofian, Reza
- Houlden, Henry
- Efthymiou, Stephanie
- Dominik, Natalia
- Salpietro, Vincenzo
- Sultan, Tipu
- Haider, Shahzad
- Bibi, Farah
- Thiele, Holger
- Hoefele, Julia
- Riedhammer, Korbinian M
- Wagner, Matias
- Guella, Ilaria
- Demos, Michelle
- Keren, Boris
- Buratti, Julien
- Charles, Perrine
- Nava, Caroline
- Héron, Delphine
- Heide, Solveig
- Valkanas, Elise
- Waddell, Leigh B
- Jones, Kristi J
- Oates, Emily C
- Cooper, Sandra T
- MacArthur, Daniel
- Syrbe, Steffen
- Ziegler, Andreas
- Platzer, Konrad
- Okur, Volkan
- Chung, Wendy K
- O'Shea, Sarah A
- Alcalay, Roy
- Fahn, Stanley
- Mark, Paul R
- Guerrini, Renzo
- Vetro, Annalisa
- Hudson, Beth
- Schnur, Rhonda E
- Hoganson, George E
- Burton, Jennifer E
- McEntagart, Meriel
- Lindenberg, Tobias
- Yilmaz, Öznur
- Odermatt, Benjamin
- Pehlivan, Davut
- Posey, Jennifer E
- Lupski, James R
- Reutter, Heiko
2021
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Genetics in medicine, 2021-12, Vol.23 (12), p.2455-2460
- Calame, Daniel G
- Bakhtiari, Somayeh
- Logan, Rachel
- Coban-Akdemir, Zeynep
- Du, Haowei
- Mitani, Tadahiro
- Fatih, Jawid M
- Hunter, Jill V
- Herman, Isabella
- Pehlivan, Davut
- Jhangiani, Shalini N
- Person, Richard
- Schnur, Rhonda E
- Jin, Sheng Chih
- Bilguvar, Kaya
- Posey, Jennifer E
- Koh, Sookyong
- Firouzabadi, Saghar G
- Alehabib, Elham
- Tafakhori, Abbas
- Esmkhani, Sahra
- Gibbs, Richard A
- Noureldeen, Mahmoud M
- Zaki, Maha S
- Marafi, Dana
- Darvish, Hossein
- Kruer, Michael C
- Lupski, James R
2021
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Genetics in medicine, 2021-10, Vol.23 (10), p.1901-1911
- Thomas, Quentin
- Gautier, Thierry
- Marafi, Dana
- Besnard, Thomas
- Willems, Marjolaine
- Moutton, Sébastien
- Isidor, Bertand
- Cogné, Benjamin
- Conrad, Solène
- Tenconi, Romano
- Iascone, Maria
- Sorlin, Arthur
- Masurel, Alice
- Dabir, Tabib
- Jackson, Adam
- Banka, Siddharth
- Delanne, Julian
- Lupski, James R.
- Saadi, Nebal Waill
- Alkuraya, Fowzan S.
- Zahrani, Fatema Al
- Agrawal, Pankaj B.
- England, Eleina
- Madden, Jill A.
- Posey, Jennifer E.
- Burglen, Lydie
- Rodriguez, Diana
- Chevarin, Martin
- Nguyen, Sylvie
- Mau-Them, Frédéric Tran
- Duffourd, Yannis
- Garret, Philippine
- Bruel, Ange-Line
- Callier, Patrick
- Marle, Nathalie
- Denomme-Pichon, Anne-Sophie
- Duplomb, Laurence
- Philippe, Christophe
- Thauvin-Robinet, Christel
- Govin, Jérôme
- Faivre, Laurence
- Vitobello, Antonio
2021
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Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2256-n/a
- Alabdulrazzaq, Fatima
- Alanzi, Talal
- Al‐Balool, Haya H.
- Gardham, Alice
- Wakeling, Emma
- Leitch, Harry G.
- AlSayed, Moeenaldeen
- Abdulrahim, Maha
- Aladwani, Abdulaziz
- Romito, Antonio
- Kampe, Kapil
- Ferdinandusse, Sacha
- Aboelanine, Ashraf H.
- Abdullah, Amira
- Alwadani, Amal
- Bastaki, Laila
- Vaz, Frédéric M.
- Bertoli‐Avella, Aida M.
- Marafi, Dana
2023
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Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627
- Marafi, Dana
- Mitani, Tadahiro
- Isikay, Sedat
- Hertecant, Jozef
- Almannai, Mohammed
- Manickam, Kandamurugu
- Abou Jamra, Rami
- El‐Hattab, Ayman W.
- Rajah, Jaishen
- Fatih, Jawid M.
- Du, Haowei
- Karaca, Ender
- Bayram, Yavuz
- Punetha, Jaya
- Rosenfeld, Jill A.
- Jhangiani, Shalini N.
- Boerwinkle, Eric
- Akdemir, Zeynep C.
- Erdin, Serkan
- Hunter, Jill V.
- Gibbs, Richard A.
- Pehlivan, Davut
- Posey, Jennifer E.
- Lupski, James R.
2020
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Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1395-1406
2019
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Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.2052-2058
2021
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Neurology, 2019-01, Vol.92 (2), p.e108
2019
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Muscle & nerve, 2021-03, Vol.63 (3), p.304-310
2021
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Clinical neurophysiology, 2019-06, Vol.130 (9), p.1528-1530
2019
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American journal of human genetics, 2021-10, Vol.108 (10), p.1981-2005
- Mitani, Tadahiro
- Isikay, Sedat
- Gezdirici, Alper
- Gulec, Elif Yilmaz
- Punetha, Jaya
- Fatih, Jawid M.
- Herman, Isabella
- Akay, Gulsen
- Du, Haowei
- Calame, Daniel G.
- Ayaz, Akif
- Tos, Tulay
- Yesil, Gozde
- Aydin, Hatip
- Geckinli, Bilgen
- Elcioglu, Nursel
- Candan, Sukru
- Sezer, Ozlem
- Erdem, Haktan Bagis
- Gul, Davut
- Demiral, Emine
- Elmas, Muhsin
- Yesilbas, Osman
- Kilic, Betul
- Gungor, Serdal
- Ceylan, Ahmet C.
- Bozdogan, Sevcan
- Ozalp, Ozge
- Cicek, Salih
- Aslan, Huseyin
- Yalcintepe, Sinem
- Topcu, Vehap
- Bayram, Yavuz
- Grochowski, Christopher M.
- Jolly, Angad
- Dawood, Moez
- Duan, Ruizhi
- Jhangiani, Shalini N.
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M.
- Marafi, Dana
- Akdemir, Zeynep Coban
- Karaca, Ender
- Carvalho, Claudia M.B.
- Gibbs, Richard A.
- Posey, Jennifer E.
- Lupski, James R.
- Pehlivan, Davut
2021
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BMJ paediatrics open, 2024-05, Vol.8 (Suppl 4), p.A13-A14
2024
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Genetics in medicine, 2022-04, Vol.24 (4), p.784-797
- Lake, Nicole J.
- Sobreira, Nara
- Chong, Jessica X.
- Chadwick, Lisa H.
- Coban-Akdemir, Zeynep H.
- Doheny, Kimberly F.
- Lek, Monkol
- Jhangiani, Shalini N.
- Lifton, Richard P.
- Matise, Tara C.
- Lupski, James R.
- Valle, David
- Nickerson, Deborah A.
- Akay, Gulsen
- Antonescu, Corina
- Austin-Tse, Christina A.
- Bacus, Tamara J.
- Bahrambeigi, Vahid
- Belmont, John W.
- Below, Jennifer E.
- Bilguvar, Kaya
- Boehm, Corinne D.
- Boone, Philip M.
- Calame, Daniel
- Cao, Xiaolong
- Carvalho, Claudia
- Chander, Varuna
- Clarke, Declan
- Delano, Kayla
- Doddapaneni, Harshavardhan
- Du, Renqian
- Fatih, Jawid
- Francioli, Laurent C.
- Fu, Jack
- Gambin, Tomasz
- Gandhi, Mira
- Ganesh, Vijay S.
- Garimella, Kiran V.
- Gauthier, Laura D.
- Gonzaga-Jauregui, Claudia
- Grochowski, Christopher M.
- Gu, Shen
- Hansen, Adam
- Harmanci, Arif O.
- Huang, Yongqing
- Johanson, Eric
- Karaca, Ender
- Kumar, Sushant
- Laricchia, Kristen M.
- Ling, Hua
- Lipson, Rachel B.
- MacMillan, Melissa P.
- Marshall, Jamie L.
- Martin, Renan
- McGee, Sean
- Mekonnen, Betselote
- Mullen, Thomas E.
- Murugan, Mullai
- Muzny, Donna M.
- Myers, Ben
- Neira, Juanita
- Nielsen, Patrick M.
- Nudelman, Natalie
- O’Leary, Melanie C.
- Pais, Lynn S.
- Patterson, Karynne
- Pehlivan, Davut
- Penney, Samantha
- Pierce-Hoffman, Emma
- Radhakrishnan, Aparna
- Richardson, Matthew A.
- Roote, Gwendolin T.
- Sabo, Aniko
- Scott, Daryl A.
- Shaw, Chad A.
- Shelford, Tameka
- Shively, Kathryn M.
- Snow, Hana
- Solomonson, Matthew
- Song, Xiaofei
- Stephan, Taylorlyn
- Sutton, V. Reid
- Sveden, Abigail
- Valivullah, Zaheer
- Wang, Lu
- Wangler, Michael F.
- Watts, Nicholas A.
- Wilson, Michael W.
- Wiszniewski, Wojciech
- Witmer, Dane
- Witzgall, Lauren
- Wohler, Elizabeth
- Wu, Nan
- Yi, Qian
- Zeiger, Jordan E.
- Zhang, Chaofan
- Zhang, Yeting
- Zoghbi, Huda
- van den Veyver, Igna
- O’Donnell-Luria, Anne
2022
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American journal of human genetics, 2023-08, Vol.110 (8), p.1229-1248
- Wojcik, Monica H.
- Reuter, Chloe M.
- Marwaha, Shruti
- Mahmoud, Medhat
- Duyzend, Michael H.
- Barseghyan, Hayk
- Yuan, Bo
- Boone, Philip M.
- Groopman, Emily E.
- Délot, Emmanuèle C.
- Jain, Deepti
- Sanchis-Juan, Alba
- Starita, Lea M.
- Talkowski, Michael
- Montgomery, Stephen B.
- Bamshad, Michael J.
- Chong, Jessica X.
- Wheeler, Matthew T.
- Berger, Seth I.
- O'Donnell-Luria, Anne
- Sedlazeck, Fritz J.
- Miller, Danny E.
2023
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British journal of haematology, 2023-11, Vol.203 (3), p.477-480
2023
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Clinical neurophysiology, 2019-09, Vol.130 (9), p.1528-1530
2019
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Nucleic acids research, 2024-02, Vol.52 (4), p.e18
2024
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Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3528-3541
- Smits, Daphne J
- Schot, Rachel
- Krusy, Nathalie
- Wiegmann, Katja
- Utermöhlen, Olaf
- Mulder, Monique T
- den Hoedt, Sandra
- Yoon, Grace
- Deshwar, Ashish R
- Kresge, Christina
- Pletcher, Beth
- van Mook, Maura
- Ferreira, Marta Serio
- Poot, Raymond A
- Slotman, Johan A
- Kremers, Gert-Jan
- Ahmad, Abeer
- Albash, Buthaina
- Bastaki, Laila
- Marafi, Dana
- Dekker, Jordy
- van Ham, Tjakko J
- Nguyen, Laurent
- Mancini, Grazia M S
2023
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Clinical genetics, 2023-09, Vol.104 (3), p.344-349
2023
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American journal of human genetics, 2023-08, Vol.110 (8), p.1394-1413
- Calame, Daniel G.
- Guo, Tianyu
- Wang, Chen
- Garrett, Lillian
- Jolly, Angad
- Dawood, Moez
- Kurolap, Alina
- Henig, Noa Zunz
- Fatih, Jawid M.
- Herman, Isabella
- Du, Haowei
- Mitani, Tadahiro
- Becker, Lore
- Rathkolb, Birgit
- Gerlini, Raffaele
- Seisenberger, Claudia
- Marschall, Susan
- Hunter, Jill V.
- Gerard, Amanda
- Heidlebaugh, Alexis
- Challman, Thomas
- Spillmann, Rebecca C.
- Jhangiani, Shalini N.
- Coban-Akdemir, Zeynep
- Lalani, Seema
- Liu, Lingxiao
- Revah-Politi, Anya
- Iglesias, Alejandro
- Guzman, Edwin
- Baugh, Evan
- Boddaert, Nathalie
- Rondeau, Sophie
- Ormieres, Clothide
- Barcia, Giulia
- Tan, Queenie K.G.
- Thiffault, Isabelle
- Pastinen, Tomi
- Sheikh, Kazim
- Biliciler, Suur
- Mei, Davide
- Melani, Federico
- Shashi, Vandana
- Yaron, Yuval
- Steele, Mary
- Wakeling, Emma
- Østergaard, Elsebet
- Nazaryan-Petersen, Lusine
- Millan, Francisca
- Santiago-Sim, Teresa
- Thevenon, Julien
- Bruel, Ange-Line
- Thauvin-Robinet, Christel
- Popp, Denny
- Platzer, Konrad
- Gawlinski, Pawel
- Wiszniewski, Wojciech
- Marafi, Dana
- Pehlivan, Davut
- Posey, Jennifer E.
- Gibbs, Richard A.
- Gailus-Durner, Valerie
- Guerrini, Renzo
- Fuchs, Helmut
- Hrabě de Angelis, Martin
- Hölter, Sabine M.
- Cheung, Hoi-Hung
- Gu, Shen
- Lupski, James R.
2023
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American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.1972-1980
2021
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American journal of human genetics, 2019-11, Vol.105 (5), p.1005-1015
- Mitani, Tadahiro
- Punetha, Jaya
- Akalin, Ibrahim
- Pehlivan, Davut
- Dawidziuk, Mateusz
- Coban Akdemir, Zeynep
- Yilmaz, Sarenur
- Aslan, Ezgi
- Hunter, Jill V.
- Hijazi, Hadia
- Grochowski, Christopher M.
- Jhangiani, Shalini N.
- Karaca, Ender
- Fatih, Jawid M.
- Iwanowski, Piotr
- Gambin, Tomasz
- Wlasienko, Pawel
- Goszczanska-Ciuchta, Alicja
- Bekiesinska-Figatowska, Monika
- Hosseini, Masoumeh
- Arzhangi, Sanaz
- Najmabadi, Hossein
- Rosenfeld, Jill A.
- Du, Haowei
- Marafi, Dana
- Blaser, Susan
- Teitelbaum, Ronni
- Silver, Rachel
- Posey, Jennifer E.
- Ropers, Hans-Hilger
- Gibbs, Richard A.
- Wiszniewski, Wojciech
- Lupski, James R.
- Chitayat, David
- Kahrizi, Kimia
- Gawlinski, Pawel
2019
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