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Frontiers in molecular neuroscience, 2022-09, Vol.15, p.1011918-1011918
2022
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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, 2021-10, 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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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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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, 2019-08, Vol.6 (8), p.1395-1406
2019
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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, 2021-10, Vol.8 (10), p.2052-2058
2021
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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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British journal of haematology, 2023-11, Vol.203 (3), p.477-480
2023
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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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Nucleic acids research, 2024-02, Vol.52 (4), p.e18
2024
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Clinical genetics, 2023-09, Vol.104 (3), p.344-349
2023
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Epilepsia (Copenhagen), 2024-03
- Cetica, Valentina
- Pisano, Tiziana
- Lesca, Gaetan
- Marafi, Dana
- Licchetta, Laura
- Riccardi, Florence
- Mei, Davide
- Chung, Hon-Yin B
- Bayat, Allan
- Balasubramanian, Meena
- Lowenstein, Daniel H
- Endzinienė, Milda
- Alotaibi, Maha
- Villeneuve, Nathalie
- Jacobs, Julia
- Isidor, Bertrand
- Solazzi, Roberta
- den Hollander, Nicolette S
- Marjanovic, Dragan
- Rougeot-Jung, Christelle
- Jung, Julien
- Lesieur-Sebellin, Marion
- Accogli, Andrea
- Salpietro, Vincenzo
- Saadi, Nebal W
- Panagiotakaki, Eleni
- Foiadelli, Thomas
- Redon, Sylvia
- Tsai, Meng-Han
- Bisulli, Francesca
- Hammer, Trine B
- Lupski, James R
- Parrini, Elena
- Guerrini, Renzo
2024
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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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Clinical genetics, 2024-02
- Almannai, Mohammed
- Marafi, Dana
- Zaki, Maha S
- Maroofian, Reza
- Efthymiou, Stephanie
- Saadi, Nebal Waill
- Filimban, Bilal
- Dafsari, Hormos Salimi
- Rahman, Fatima
- Maqbool, Shazia
- Faqeih, Eissa
- Al Mutairi, Fuad
- Alsharhan, Hind
- Abdelaty, Omar
- Bin-Hasan, Saadoun
- Duan, Ruizhi
- Noureldeen, Mahmoud M
- Alqattan, Alaa
- Houlden, Henry
- Hunter, Jill V
- Posey, Jennifer E
- Lupski, James R
- El-Hattab, Ayman W
2024
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Brain (London, England : 1878), 2022-04, Vol.145 (3), p.909-924
- Marafi, Dana
- Fatih, Jawid M
- Kaiyrzhanov, Rauan
- Ferla, Matteo P
- Gijavanekar, Charul
- Al-Maraghi, Aljazi
- Liu, Ning
- Sites, Emily
- Alsaif, Hessa S
- Al-Owain, Mohammad
- Zakkariah, Mohamed
- El-Anany, Ehab
- Guliyeva, Ulviyya
- Guliyeva, Sughra
- Gaba, Colette
- Haseeb, Ateeq
- Alhashem, Amal M
- Danish, Enam
- Karageorgou, Vasiliki
- Beetz, Christian
- Subhi, Alaa A
- Mullegama, Sureni V
- Torti, Erin
- Sebastin, Monisha
- Breilyn, Margo Sheck
- Duberstein, Susan
- Abdel-Hamid, Mohamed S
- Mitani, Tadahiro
- Du, Haowei
- Rosenfeld, Jill A
- Jhangiani, Shalini N
- Coban Akdemir, Zeynep
- Gibbs, Richard A
- Taylor, Jenny C
- Fakhro, Khalid A
- Hunter, Jill V
- Pehlivan, Davut
- Zaki, Maha S
- Gleeson, Joseph G
- Maroofian, Reza
- Houlden, Henry
- Posey, Jennifer E
- Sutton, V Reid
- Alkuraya, Fowzan S
- Elsea, Sarah H
- Lupski, James R
2022
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Brain (London, England : 1878), 2020-10, Vol.143 (10), p.e83-e83
2020
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Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5031-5043
- Maroofian, Reza
- Kaiyrzhanov, Rauan
- Cali, Elisa
- Zamani, Mina
- Zaki, Maha S
- Ferla, Matteo
- Tortora, Domenico
- Sadeghian, Saeid
- Saadi, Saadia Maryam
- Abdullah, Uzma
- Karimiani, Ehsan Ghayoor
- Efthymiou, Stephanie
- Yeşil, Gözde
- Alavi, Shahryar
- Al Shamsi, Aisha M
- Tajsharghi, Homa
- Abdel-Hamid, Mohamed S
- Saadi, Nebal Waill
- Al Mutairi, Fuad
- Alabdi, Lama
- Beetz, Christian
- Ali, Zafar
- Toosi, Mehran Beiraghi
- Rudnik-Schöneborn, Sabine
- Babaei, Meisam
- Isohanni, Pirjo
- Muhammad, Jameel
- Khan, Sheraz
- Al Shalan, Maha
- Hickey, Scott E
- Marom, Daphna
- Elhanan, Emil
- Kurian, Manju A
- Marafi, Dana
- Saberi, Alihossein
- Hamid, Mohammad
- Spaull, Robert
- Meng, Linyan
- Lalani, Seema
- Maqbool, Shazia
- Rahman, Fatima
- Seeger, Jürgen
- Palculict, Timothy Blake
- Lau, Tracy
- Murphy, David
- Mencacci, Niccolo Emanuele
- Steindl, Katharina
- Begemann, Anais
- Rauch, Anita
- Akbas, Sinan
- Aslanger, Ayça Dilruba
- Salpietro, Vincenzo
- Yousaf, Hammad
- Ben-Shachar, Shay
- Ejeskär, Katarina
- Al Aqeel, Aida I
- High, Frances A
- Armstrong-Javors, Amy E
- Zahraei, Seyed Mohammadsaleh
- Seifi, Tahereh
- Zeighami, Jawaher
- Shariati, Gholamreza
- Sedaghat, Alireza
- Asl, Samaneh Noroozi
- Shahrooei, Mohmmad
- Zifarelli, Giovanni
- Burglen, Lydie
- Ravelli, Claudia
- Zschocke, Johannes
- Schatz, Ulrich A
- Ghavideldarestani, Maryam
- Kamel, Walaa A
- Van Esch, Hilde
- Hackenberg, Annette
- Taylor, Jenny C
- Al-Gazali, Lihadh
- Bauer, Peter
- Gleeson, Joseph J
- Alkuraya, Fowzan Sami
- Lupski, James R
- Galehdari, Hamid
- Azizimalamiri, Reza
- Chung, Wendy K
- Baig, Shahid Mahmood
- Houlden, Henry
- Severino, Mariasavina
2023
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American journal of human genetics, 2023-04, Vol.110 (4), p.681-690
- Lecca, Mauro
- Pehlivan, Davut
- Suñer, Damià Heine
- Weiss, Karin
- Coste, Thibault
- Zweier, Markus
- Oktay, Yavuz
- Danial-Farran, Nada
- Rosti, Vittorio
- Bonasoni, Maria Paola
- Malara, Alessandro
- Contrò, Gianluca
- Zuntini, Roberta
- Pollazzon, Marzia
- Pascarella, Rosario
- Neri, Alberto
- Fusco, Carlo
- Marafi, Dana
- Mitani, Tadahiro
- Posey, Jennifer Ellen
- Bayramoglu, Sadik Etka
- Gezdirici, Alper
- Hernandez-Rodriguez, Jessica
- Cladera, Emilia Amengual
- Miravet, Elena
- Roldan-Busto, Jorge
- Ruiz, María Angeles
- Bauzá, Cristofol Vives
- Ben-Sira, Liat
- Sigaudy, Sabine
- Begemann, Anaïs
- Unger, Sheila
- Güngör, Serdal
- Hiz, Semra
- Sonmezler, Ece
- Zehavi, Yoav
- Jerdev, Michael
- Balduini, Alessandra
- Zuffardi, Orsetta
- Horvath, Rita
- Lochmüller, Hanns
- Rauch, Anita
- Garavelli, Livia
- Tournier-Lasserve, Elisabeth
- Spiegel, Ronen
- Lupski, James R.
- Errichiello, Edoardo
2023
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Annals of neurology, 2021-04, Vol.89 (4), p.828-833
- Meng, Linyan
- Isohanni, Pirjo
- Shao, Yunru
- Graham, Brett H.
- Hickey, Scott E.
- Brooks, Stephanie
- Suomalainen, Anu
- Joset, Pascal
- Steindl, Katharina
- Rauch, Anita
- Hackenberg, Annette
- High, Frances A.
- Armstrong‐Javors, Amy
- Mencacci, Niccolò E.
- Gonzàlez‐Latapi, Paulina
- Kamel, Walaa A.
- Al‐Hashel, Jasem Y.
- Bustos, Bernabé I.
- Hernandez, Alejandro V.
- Krainc, Dimitri
- Lubbe, Steven J.
- Van Esch, Hilde
- De Luca, Chiara
- Ballon, Katleen
- Ravelli, Claudia
- Burglen, Lydie
- Qebibo, Leila
- Calame, Daniel G.
- Mitani, Tadahiro
- Marafi, Dana
- Pehlivan, Davut
- Saadi, Nebal W.
- Sahin, Yavuz
- Maroofian, Reza
- Efthymiou, Stephanie
- Houlden, Henry
- Maqbool, Shazia
- Rahman, Fatima
- Gu, Shen
- Posey, Jennifer E.
- Lupski, James R.
- Hunter, Jill V.
- Wangler, Michael F.
- Carroll, Christopher J.
- Yang, Yaping
2021
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