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Research |
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
- Ashleigh E. Schaffer
- , Martin W. Breuss
- , Ahmet Okay Caglayan
- , Nouriya Al-Sanaa
- , Hind Y. Al-Abdulwahed
- , Hande Kaymakçalan
- , Cahide Yılmaz
- , Maha S. Zaki
- , Rasim O. Rosti
- , Brett Copeland
- , Seung Tae Baek
- , Damir Musaev
- , Eric C. Scott
- , Tawfeg Ben-Omran
- , Ariana Kariminejad
- , Hulya Kayserili
- , Faezeh Mojahedi
- , Majdi Kara
- , Na Cai
- , Jennifer L. Silhavy
- , Seham Elsharif
- , Elif Fenercioglu
- , Bruce A. Barshop
- , Bulent Kara
- , Rengang Wang
- , Valentina Stanley
- , Kiely N. James
- , Rahul Nachnani
- , Aneesha Kalur
- , Hisham Megahed
- , Faruk Incecik
- , Sumita Danda
- , Yasemin Alanay
- , Eissa Faqeih
- , Gia Melikishvili
- , Lobna Mansour
- , Ian Miller
- , Biayna Sukhudyan
- , Jamel Chelly
- , William B. Dobyns
- , Kaya Bilguvar
- , Rami Abou Jamra
- , Murat Gunel
- & Joseph G. Gleeson
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Research |
Genetics of intellectual disability in consanguineous families
- Hao Hu
- , Kimia Kahrizi
- , Luciana Musante
- , Zohreh Fattahi
- , Ralf Herwig
- , Masoumeh Hosseini
- , Cornelia Oppitz
- , Seyedeh Sedigheh Abedini
- , Vanessa Suckow
- , Farzaneh Larti
- , Maryam Beheshtian
- , Bettina Lipkowitz
- , Tara Akhtarkhavari
- , Sepideh Mehvari
- , Sabine Otto
- , Marzieh Mohseni
- , Sanaz Arzhangi
- , Payman Jamali
- , Faezeh Mojahedi
- , Maryam Taghdiri
- , Elaheh Papari
- , Mohammad Javad Soltani Banavandi
- , Saeide Akbari
- , Seyed Hassan Tonekaboni
- , Hossein Dehghani
- , Mohammad Reza Ebrahimpour
- , Ingrid Bader
- , Behzad Davarnia
- , Monika Cohen
- , Hossein Khodaei
- , Beate Albrecht
- , Sarah Azimi
- , Birgit Zirn
- , Milad Bastami
- , Dagmar Wieczorek
- , Gholamreza Bahrami
- , Krystyna Keleman
- , Leila Nouri Vahid
- , Andreas Tzschach
- , Jutta Gärtner
- , Gabriele Gillessen-Kaesbach
- , Jamileh Rezazadeh Varaghchi
- , Bernd Timmermann
- , Fatemeh Pourfatemi
- , Aria Jankhah
- , Wei Chen
- , Pooneh Nikuei
- , Vera M. Kalscheuer
- , Morteza Oladnabi
- , Thomas F. Wienker
- , Hans-Hilger Ropers
- & Hossein Najmabadi
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Research |
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
- Eric M Scott
- , Anason Halees
- , Yuval Itan
- , Emily G Spencer
- , Yupeng He
- , Mostafa Abdellateef Azab
- , Stacey B Gabriel
- , Aziz Belkadi
- , Bertrand Boisson
- , Laurent Abel
- , Andrew G Clark
- , Sohair Abdel Rahim
- , Sawsan Abdel-Hadi
- , Ghada Abdel-Salam
- , Ekram Abdel-Salam
- , Mohammed Abdou
- , Avinash Abhytankar
- , Parisa Adimi
- , Jamil Ahmad
- , Mustafa Akcakus
- , Guside Aksu
- , Sami Al Hajjar
- , Suliman Al Juamaah
- , Saleh Al Muhsen
- , Nouriya Al Sannaa
- , Salem Al Tameni
- , Jumana Al-Aama
- , Nasir Al-Allawi
- , Raidah Al-Baradie
- , Lihadh Al-Gazali
- , Amal Al-Hashem
- , Waleed Al-Herz
- , Deema Al-Jeaid
- , Asma Al-Tawari
- , Abdullah Alangari
- , Alexandre Alcais
- , Tariq S AlFawaz
- , Zobaida Alsum
- , Aomar Ammar-Khodja
- , Sepideh Amouian
- , Cigdem Arikan
- , Omid Aryani
- , Ayca Aslanger
- , Cigdem Aydogmus
- , Caner Aytekin
- , Matloob Azam
- , Boglarka Bansagi
- , Mohamed-Rhida Barbouche
- , Laila Bastaki
- , Tawfeg Ben-Omran
- , Parayil Sankaran Bindu
- , Lizbeth Blancas
- , Stéphanie Boisson-Dupuis
- , Damien Bonnet
- , Omar Boudghene Stambouli
- , Aziz Bousfiha
- , Lobna Boussafara
- , Jeannette Boutros
- , Jacinta Bustamante
- , Huseyin Caksen
- , Yildiz Camcioglu
- , Emilie Catherinot
- , Fatma C Celik
- , Michael Ciancanelli
- , Funda E Cipe
- , Gary Clark
- , Aurélie Cobat
- , Sinan Comu
- , Angela Condie
- , Antonio Condino-Neto
- , Mukesh Desai
- , William Dobyns
- , Figen Dogu
- , Mohamed Domaia
- , Meltem Dorum
- , Odul Egritas
- , Safa El Azbaoui
- , Jamila El Baghdadi
- , Mona El Ruby
- , Ashraf El-Harouni
- , Reem A Elfeky
- , Gehad Elghazali
- , Eissa Faqeih
- , Elif Fenerci
- , Claire Fieschi
- , Cipe Funda
- , Iman Gamal
- , Umit Gelik
- , Fetah Genel
- , Alper Gezdirici
- , Katta M Girisha
- , Amy Goldstein
- , Padraic Grattan-Smith
- , Neerja Gupta
- , Jin Hahn
- , Nevin Hatipoglu
- , Raoul Hennekam
- , Massoud Houshmand
- , Philippe Ichai
- , Aydan Ikinciogullari
- , Samira Ismail
- , Chaim Jalas
- , Emmanuelle Jouanguy
- , Madhulika Kabra
- , Göknur Kalkan
- , Majdi Kara
- , Neslihan Karaca
- , Kadri Karaer
- , Ariana Kariminejad
- , Hulya Kayserili
- , Melike Keser-Emiroglu
- , Sara S Kilic
- , Najib Kissani
- , Cristina Kokron
- , Roshan Koul
- , Necil Kutukculer
- , Fanny Lanternier
- , Alireza Mahdaviani
- , Nizar Mahlaoui
- , Lobna Mansour
- , Davood Mansouri
- , Lucia Margari
- , Enza Maria Valente
- , Naima Marzouki
- , Amira Masri
- , Amina Megahed
- , Hisham Megahed
- , Najla Mekki
- , Mehrnaz Mesdaghi
- , Mohd Mikati
- , Faezeh Mojahedi
- , John Mulley
- , Sheela Nampoothiri
- , Carmen Navarrete
- , Tarek Omar
- , Azza Oraby
- , Ayse Pandaluz
- , Nima Parvaneh
- , Turkan Patiroglu
- , Zeynep Peker Koc
- , Isabelle Pellier
- , Capucine Picard
- , Anne Puel
- , Annick Raas-Rothschild
- , Anna Rajab
- , Didier Raoult
- , Ismail Reisli
- , Nima Rezaei
- , Ayoub Sabri
- , Yasin Sahin
- , Laila Saleem
- , Fadia Salem
- , Najla Sameer AlSediq
- , Ozden Sanal
- , Terry Sanger
- , Hanan Shakankiry
- , Lei Shang
- , Nabil Shehata
- , Nuri Shembesh
- , Vared Shkalim
- , Ameen Softah
- , Sameera Sogaty
- , Neveen Soliman
- , Fatma Sonmez-Aunaci
- , Laszlo Sztriha
- , Lynda Taibi-Berrah
- , Samia Temtamy
- , Hasan Tonekaboni
- , Doris Trauner
- , Beyhan Tuysuz
- , Beyhan Tuysuz
- , Ali Varan
- , Guillaume Vogt
- , Christopher Walsh
- , Geoffrey Woods
- , Gozde Yesil
- , Alisan Yildiran
- , Basak Yildiz
- , Adnan Yuksel
- , Maha Zaki
- , Shen-Ying Zhang
- , Fowzan S Alkuraya
- , Jean-Laurent Casanova
- & Joseph G Gleeson
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Research |
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
- Naiara Akizu
- , Vincent Cantagrel
- , Maha S Zaki
- , Lihadh Al-Gazali
- , Xin Wang
- , Rasim Ozgur Rosti
- , Esra Dikoglu
- , Antoinette Bernabe Gelot
- , Basak Rosti
- , Keith K Vaux
- , Eric M Scott
- , Jennifer L Silhavy
- , Jana Schroth
- , Brett Copeland
- , Ashleigh E Schaffer
- , Philip L S M Gordts
- , Jeffrey D Esko
- , Matthew D Buschman
- , Seth J Field
- , Gennaro Napolitano
- , Ghada M Abdel-Salam
- , R Koksal Ozgul
- , Mahmut Samil Sagıroglu
- , Matloob Azam
- , Samira Ismail
- , Mona Aglan
- , Laila Selim
- , Iman G Mahmoud
- , Sawsan Abdel-Hadi
- , Amera El Badawy
- , Abdelrahim A Sadek
- , Faezeh Mojahedi
- , Hulya Kayserili
- , Amira Masri
- , Laila Bastaki
- , Samia Temtamy
- , Ulrich Müller
- , Isabelle Desguerre
- , Jean-Laurent Casanova
- , Ali Dursun
- , Murat Gunel
- , Stacey B Gabriel
- , Pascale de Lonlay
- & Joseph G Gleeson
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Research |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- Hossein Najmabadi
- , Hao Hu
- , Masoud Garshasbi
- , Tomasz Zemojtel
- , Seyedeh Sedigheh Abedini
- , Wei Chen
- , Masoumeh Hosseini
- , Farkhondeh Behjati
- , Stefan Haas
- , Payman Jamali
- , Agnes Zecha
- , Marzieh Mohseni
- , Lucia Püttmann
- , Leyla Nouri Vahid
- , Corinna Jensen
- , Lia Abbasi Moheb
- , Melanie Bienek
- , Farzaneh Larti
- , Ines Mueller
- , Robert Weissmann
- , Hossein Darvish
- , Klaus Wrogemann
- , Valeh Hadavi
- , Bettina Lipkowitz
- , Sahar Esmaeeli-Nieh
- , Dagmar Wieczorek
- , Roxana Kariminejad
- , Saghar Ghasemi Firouzabadi
- , Monika Cohen
- , Zohreh Fattahi
- , Imma Rost
- , Faezeh Mojahedi
- , Christoph Hertzberg
- , Atefeh Dehghan
- , Anna Rajab
- , Mohammad Javad Soltani Banavandi
- , Julia Hoffer
- , Masoumeh Falah
- , Luciana Musante
- , Vera Kalscheuer
- , Reinhard Ullmann
- , Andreas Walter Kuss
- , Andreas Tzschach
- , Kimia Kahrizi
- & H. Hilger Ropers
