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American journal of human genetics, 2019-07, Vol.105 (1), p.132-150
- Pehlivan, Davut
- Bayram, Yavuz
- Gunes, Nilay
- Coban Akdemir, Zeynep
- Shukla, Anju
- Bierhals, Tatjana
- Tabakci, Burcu
- Sahin, Yavuz
- Gezdirici, Alper
- Fatih, Jawid M.
- Gulec, Elif Yilmaz
- Yesil, Gozde
- Punetha, Jaya
- Ocak, Zeynep
- Grochowski, Christopher M.
- Karaca, Ender
- Albayrak, Hatice Mutlu
- Radhakrishnan, Periyasamy
- Erdem, Haktan Bagis
- Sahin, Ibrahim
- Yildirim, Timur
- Bayhan, Ilhan A.
- Bursali, Aysegul
- Elmas, Muhsin
- Yuksel, Zafer
- Ozdemir, Ozturk
- Silan, Fatma
- Yildiz, Onur
- Yesilbas, Osman
- Isikay, Sedat
- Balta, Burhan
- Gu, Shen
- Jhangiani, Shalini N.
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M.
- Boerwinkle, Eric
- Gibbs, Richard A.
- Tsiakas, Konstantinos
- Hempel, Maja
- Girisha, Katta Mohan
- Gul, Davut
- Posey, Jennifer E.
- Elcioglu, Nursel H.
- Tuysuz, Beyhan
- Lupski, James R.
2019
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Developmental cell, 2019-12, Vol.51 (6), p.713-729.e6
2019
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American journal of human genetics, 2014-03, Vol.94 (3), p.405-414
2014
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American journal of human genetics, 2013-11, Vol.93 (5), p.915-925
- Halbritter, Jan
- Bizet, Albane A.
- Schmidts, Miriam
- Porath, Jonathan D.
- Braun, Daniela A.
- Gee, Heon Yung
- McInerney-Leo, Aideen M.
- Krug, Pauline
- Filhol, Emilie
- Davis, Erica E.
- Airik, Rannar
- Czarnecki, Peter G.
- Lehman, Anna M.
- Trnka, Peter
- Nitschké, Patrick
- Bole-Feysot, Christine
- Schueler, Markus
- Knebelmann, Bertrand
- Burtey, Stéphane
- Szabó, Attila J.
- Tory, Kálmán
- Leo, Paul J.
- Gardiner, Brooke
- McKenzie, Fiona A.
- Zankl, Andreas
- Brown, Matthew A.
- Hartley, Jane L.
- Maher, Eamonn R.
- Li, Chunmei
- Leroux, Michel R.
- Scambler, Peter J.
- Zhan, Shing H.
- Jones, Steven J.
- Kayserili, Hülya
- Tuysuz, Beyhan
- Moorani, Khemchand N.
- Constantinescu, Alexandru
- Krantz, Ian D.
- Kaplan, Bernard S.
- Shah, Jagesh V.
- Hurd, Toby W.
- Doherty, Dan
- Katsanis, Nicholas
- Duncan, Emma L.
- Otto, Edgar A.
- Beales, Philip L.
- Mitchison, Hannah M.
- Saunier, Sophie
- Hildebrandt, Friedhelm
2013
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
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Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (9), p.3489-3494
- Bilguvar, Kaya
- Tyagi, Navneet K.
- Ozkara, Cigdem
- Tuysuz, Beyhan
- Bakircioglu, Mehmet
- Choi, Murim
- Delil, Sakir
- Caglayan, Ahmet O.
- Baranoski, Jacob F.
- Erturk, Ozdem
- Yalcinkaya, Cengiz
- Karacorlu, Murat
- Dincer, Alp
- Johnson, Michele H.
- Mane, Shrikant
- Chandra, Sreeganga S.
- Louvi, Angeliki
- Boggon, Titus J.
- Lifton, Richard P.
- Horwich, Arthur L.
- Gunel, Murat
2013
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The journal of clinical endocrinology and metabolism, 2016-07, Vol.101 (7), p.2759-2767
- Akinci, Baris
- Onay, Huseyin
- Demir, Tevfik
- Ozen, Samim
- Kayserili, Hulya
- Akinci, Gulcin
- Nur, Banu
- Tuysuz, Beyhan
- Nuri Ozbek, Mehmet
- Gungor, Adem
- Yildirim Simsir, Ilgin
- Altay, Canan
- Demir, Leyla
- Simsek, Enver
- Atmaca, Murat
- Topaloglu, Haluk
- Bilen, Habib
- Atmaca, Hulusi
- Atik, Tahir
- Cavdar, Umit
- Altunoglu, Umut
- Aslanger, Ayca
- Mihci, Ercan
- Secil, Mustafa
- Saygili, Fusun
- Comlekci, Abdurrahman
- Garg, Abhimanyu
2016
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Scientific reports, 2017-03, Vol.7 (1), p.43708-43708, Article 43708
2017
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Human mutation, 2019-07, Vol.40 (7), p.842-864, Article humu.23748
- Velho, Renata Voltolini
- Harms, Frederike L.
- Danyukova, Tatyana
- Ludwig, Nataniel F.
- Friez, Michael J.
- Cathey, Sara S.
- Filocamo, Mirella
- Tappino, Barbara
- Güneş, Nilay
- Tüysüz, Beyhan
- Tylee, Karen L.
- Brammeier, Kathryn L.
- Heptinstall, Lesley
- Oussoren, Esmee
- Ploeg, Ans T.
- Petersen, Christine
- Alves, Sandra
- Saavedra, Gloria Durán
- Schwartz, Ida V.
- Muschol, Nicole
- Kutsche, Kerstin
- Pohl, Sandra
2019
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The Journal of clinical investigation, 2016-02, Vol.126 (2), p.762-778
- Bayram, Yavuz
- Karaca, Ender
- Coban Akdemir, Zeynep
- Yilmaz, Elif Ozdamar
- Tayfun, Gulsen Akay
- Aydin, Hatip
- Torun, Deniz
- Bozdogan, Sevcan Tug
- Gezdirici, Alper
- Isikay, Sedat
- Atik, Mehmed M
- Gambin, Tomasz
- Harel, Tamar
- El-Hattab, Ayman W
- Charng, Wu-Lin
- Pehlivan, Davut
- Jhangiani, Shalini N
- Muzny, Donna M
- Karaman, Ali
- Celik, Tamer
- Yuregir, Ozge Ozalp
- Yildirim, Timur
- Bayhan, Ilhan A
- Boerwinkle, Eric
- Gibbs, Richard A
- Elcioglu, Nursel
- Tuysuz, Beyhan
- Lupski, James R
2016
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- Chatron, Nicolas
- Becker, Felicitas
- Morsy, Heba
- Schmidts, Miriam
- Hardies, Katia
- Tuysuz, Beyhan
- Roselli, Sandra
- Najafi, Maryam
- Alkaya, Dilek Uludag
- Ashrafzadeh, Farah
- Nabil, Amira
- Omar, Tarek
- Maroofian, Reza
- Karimiani, Ehsan Ghayoor
- Hussien, Haytham
- Kok, Fernando
- Ramos, Luiza
- Gunes, Nilay
- Bilguvar, Kaya
- Labalme, Audrey
- Alix, Eudeline
- Sanlaville, Damien
- de Bellescize, Julitta
- Poulat, Anne-Lise
- Moslemi, Ali-Reza
- Lerche, Holger
- May, Patrick
- Lesca, Gaetan
- Weckhuysen, Sarah
- Tajsharghi, Homa
2020
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Journal of human genetics, 2022-09, Vol.67 (9), p.553-556
2022
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Journal of human genetics, 2015-06, Vol.60 (6), p.339-342
2015
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Nature genetics, 2007-06, Vol.39 (6), p.727-729
2007
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Human genetics, 2021-08, Vol.140 (8), p.1229-1239
- Elsner, Jonas
- Mensah, Martin A.
- Holtgrewe, Manuel
- Hertzberg, Jakob
- Bigoni, Stefania
- Busche, Andreas
- Coutelier, Marie
- de Silva, Deepthi C.
- Elçioglu, Nursel
- Filges, Isabel
- Gerkes, Erica
- Girisha, Katta M.
- Graul-Neumann, Luitgard
- Jamsheer, Aleksander
- Krawitz, Peter
- Kurth, Ingo
- Markus, Susanne
- Megarbane, Andre
- Reis, André
- Reuter, Miriam S.
- Svoboda, Daniel
- Teller, Christopher
- Tuysuz, Beyhan
- Türkmen, Seval
- Wilson, Meredith
- Woitschach, Rixa
- Vater, Inga
- Caliebe, Almuth
- Hülsemann, Wiebke
- Horn, Denise
- Mundlos, Stefan
- Spielmann, Malte
2021
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American journal of human genetics, 2011-05, Vol.88 (5), p.523-535
- Bakircioglu, Mehmet
- Carvalho, Ofélia P.
- Khurshid, Maryam
- Cox, James J.
- Tuysuz, Beyhan
- Barak, Tanyeri
- Yilmaz, Saliha
- Caglayan, Okay
- Dincer, Alp
- Nicholas, Adeline K.
- Quarrell, Oliver
- Springell, Kelly
- Karbani, Gulshan
- Malik, Saghira
- Gannon, Caroline
- Sheridan, Eamonn
- Crosier, Moira
- Lisgo, Steve N.
- Lindsay, Susan
- Bilguvar, Kaya
- Gergely, Fanni
- Gunel, Murat
- Woods, C. Geoffrey
2011
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Journal of human genetics, 2019-07, Vol.64 (7), p.609-616
2019
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Human mutation, 2015-06, Vol.36 (6), p.593-598
2015
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Brain & development (Tokyo. 1979), 2010-08, Vol.32 (7), p.544-549
2010
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Human mutation, 2011-06, Vol.32 (6), p.E2189-E2210
- Bertola, Francesca
- Filocamo, Mirella
- Casati, Giorgio
- Mort, Matthew
- Rosano, Camillo
- Tylki-Szymanska, Anna
- Tüysüz, Beyhan
- Gabrielli, Orazio
- Grossi, Serena
- Scarpa, Maurizio
- Parenti, Giancarlo
- Antuzzi, Daniela
- Dalmau, Jaime
- Rocco, Maja Di
- Vici, Carlo Dionisi
- Okur, Ilyas
- Rosell, Jordi
- Rovelli, Attilio
- Furlan, Francesca
- Rigoldi, Miriam
- Biondi, Andrea
- Cooper, David N
- Parini, Rossella
2011
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The Journal of pediatrics, 2014-05, Vol.164 (5), p.1064-1067
2014
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Human mutation, 2012-08, Vol.33 (8), p.1261-1266
- Nizon, Mathilde
- Huber, Céline
- De Leonardis, Fabio
- Merrina, Rodolphe
- Forlino, Antonella
- Fradin, Mélanie
- Tuysuz, Beyhan
- Abu-Libdeh, Bassam Y.
- Alanay, Yasemin
- Albrecht, Beate
- Al-Gazali, Lihadh
- Basaran, Sarenur Yilmaz
- Clayton-Smith, Jill
- Désir, Julie
- Gill, Harinder
- Greally, Marie T.
- Koparir, Erkan
- van Maarle, Merel C
- MacKay, Sara
- Mortier, Geert
- Morton, Jenny
- Sillence, David
- Vilain, Catheline
- Young, Ian
- Zerres, Klaus
- Le Merrer, Martine
- Munnich, Arnold
- Le Goff, Carine
- Rossi, Antonio
- Cormier-Daire, Valérie
2012
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Journal of human genetics, 2017-02, Vol.62 (2), p.341-342
2017
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Turkish archives of pediatrics, 2023-03, Vol.58 (2), p.182-188
2023
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Molecular syndromology, 2020-11, Vol.11 (4), p.183-196
2020
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