Deep sequencing reveals 50 novel genes for recessive cognitive disorders von Najmabadi, Hossein, Hu, Hao, Garshasbi, Masoud, Zemojtel, Tomasz, Abedini, Seyedeh Sedigheh, Chen, Wei, Hosseini, Masoumeh, Behjati, Farkhondeh, Haas, Stefan, Jamali, Payman, Zecha, Agnes, Mohseni, Marzieh, Püttmann, Lucia, Vahid, Leyla Nouri, Jensen, Corinna, Moheb, Lia Abbasi, Bienek, Melanie, Larti, Farzaneh, Mueller, Ines, Weissmann, Robert, Darvish, Hossein, Wrogemann, Klaus, Hadavi, Valeh, Lipkowitz, Bettina, Esmaeeli-Nieh, Sahar, Wieczorek, Dagmar, Kariminejad, Roxana, Firouzabadi, Saghar Ghasemi, Cohen, Monika, Fattahi, Zohreh, Rost, Imma, Mojahedi, Faezeh, Hertzberg, Christoph, Dehghan, Atefeh, Rajab, Anna, Banavandi, Mohammad Javad Soltani, Hoffer, Julia, Falah, Masoumeh, Musante, Luciana, Kalscheuer, Vera, Ullmann, Reinhard, Kuss, Andreas Walter, Tzschach, Andreas, Kahrizi, Kimia, Ropers, H. Hilger

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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies von Mohammadzadeh, Akbar, Akbaroghli, Susan, Aghaei-Moghadam, Ehsan, Mahdieh, Nejat, Badv, Reza Shervin, Jamali, Payman, Kariminejad, Roxana, Chavoshzadeh, Zahra, Ghasemi Firouzabadi, Saghar, Mansour Ghanaie, Roxana, Nozari, Ahoura, Banihashemi, Sussan, Hadipour, Fatemeh, Hadipour, Zahra, Kariminejad, Ariana, Najmabadi, Hossein, Shafeghati, Yousef, Behjati, Farkhondeh

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COL18A1 is a candidate eye iridocorneal angle-closure gene in humans von Suri, Fatemeh, Yazdani, Shahin, Chapi, Marjan, Safari, Iman, Rasooli, Paniz, Daftarian, Narsis, Jafarinasab, Mohammad Reza, Ghasemi Firouzabadi, Saghar, Alehabib, Elham, Darvish, Hossein, Klotzle, Brandy, Fan, Jian-Bing, Turk, Casey, Elahi, Elahe

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Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families von Agha Gholizadeh, Mehdi, Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Heidari, Erfan, Razmara, Ehsan, Almadani, Navid, Sharifi Zarchi, Ali, Garshasbi, Masoud

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ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism von Darvish, Hossein, Azcona, Luis J., Taghavi, Shaghayegh, Firouzabadi, Saghar Ghasemi, Tafakhori, Abbas, Alehabib, Elham, Mohajerani, Fatemeh, Zardadi, Safoura, Paisán‐Ruiz, Coro

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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia von Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.

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A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family von Nozari, Ahoura, Aghaei-Moghadam, Ehsan, Zeinaloo, Aliakbar, Mollazadeh, Reza, Majnoon, Mohammad-Taghi, Alavi, Afagh, Ghasemi Firouzabadi, Saghar, Mohammadzadeh, Akbar, Banihashemi, Susan, Nikzaban, Mehrnoush, Najmabadi, Hossein, Behjati, Farkhondeh

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Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications von Ghasemi Firouzabadi, Saghar, Vameghi, Roshanak, Kariminejad, Roxana, Darvish, Hossein, Banihashemi, Susan, Firouzkouhi Moghaddam, Mahboubeh, Jamali, Peyman, Farbod Mofidi Tehrani, Hassan, Dehghani, Hossein, Raeisoon, Mohammad Reza, Narooie-Nejad, Mehrnaz, Jamshidi, Javad, Tafakhori, Abbas, Sadabadi, Saeid, Behjati, Farkhondeh

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder von Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad

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Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages von Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Kahrizi, Kimia, Kariminejad, Roxana, Bagherizadeh, Iman, Ansari, Javad, Fallah, Masoumeh, Mojtahedi, Forough, Darvish, Hossein, Bahrami Monajemi, Gholamreza, Abedini, S Sedigheh, Jamali, Payman, Mojahedi, Faezeh, Zadeh-Vakili, Azita, Najmabadi, Hossein

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Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems von Farajzadeh Valilou, Saeed, Alavi, Afagh, Pashaei, Mahdiyeh, Ghasemi Firouzabadi, Saghar, Shafeghati, Yousef, Nozari, Ahoura, Hadipour, Fatemeh, Hadipour, Zahra, Maghsoodlou Estrabadi, Bijan, Gholamreza Noorazar, Seyed, Banihashemi, Susan, Karimian, Javad, Fattahi, Mahshid, Behjati, Farkhondeh

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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci von NAJMABADI, Hossein, MOHAMMAD MAHDI MOTAZACKER, VAZIFEHMAND, Reza, SAGHAR GHASEMI FIROUZABADI, JAMALI, Payman, FALAH, Masoumeh, SEYED MORTEZA SEIFATI, GRUTERS, Annette, LENZNER, Steffen, JENSEN, Lar R, RÜSCHENDORF, Franz, KUSS, Andreas W, GARSHASBI, Masoud, HILGER ROPERS, H, KAHRIZI, Kimia, TZSCHACH, Andreas, WEI CHEN, BEHJATI, Farkhondeh, HADAVI, Valeh, SAHAR ESMAEELI NIEH, SEYEDEH SEDIGHEH ABEDINI

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly von Garshasbi, Masoud, Motazacker, Mohammad Mahdi, Kahrizi, Kimia, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, Firouzabadi, Saghar Ghasemi, Becker, Christian, Rüschendorf, Franz, Nürnberg, Peter, Tzschach, Andreas, Vazifehmand, Reza, Erdogan, Fikret, Ullmann, Reinhard, Lenzner, Steffen, Kuss, Andreas W, Ropers, H Hilger, Najmabadi, Hossein

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M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism von Behjati, Farkhondeh, Shafaghati, Yousef, Firouzabadi, Saghar Ghasemi, Kahrizi, Kimia, Bagherizadeh, Iman, Najmabadi, Hossein, Bint, Susan, Ogilvie, Caroline

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Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic M... von Behjati, Farkhondeh, Ghasemi Firouzabadi, Saghar, Sajedi, Firoozeh, Kahrizi, Kimia, Najafi, Mostafa, Ebrahimizade Ghasemlou, Behruz, Shafeghati, Yousef, Behnia, Fatemeh, Mohammadi Arya, Ali Reza, Karimi, Hossein, Hadipour, Fatemeh, Hadipour, Zahra, Jamali, Peyman, Kariminejad, Roxana, Darvish, Hossein, Bahman, Ideh, Bagherizadeh, Eiman, Najmabadi, Hossein, Vameghi, Roshanak

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Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation von Behjati, Farkhondeh, Shafeghati, Yousef, Kahrizi, Kimia, Firouzabadi, Saghar Ghasemi, Najmabadi, Hossein, Dixon, Neil, Davies, Angela F.

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Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism von Sanchez, Elena, Darvish, Hossein, Mesias, Roxana, Taghavi, Shaghyegh, Firouzabadi, Saghar Ghasemi, Walker, Ruth H., Tafakhori, Abbas, Paisán-Ruiz, Coro

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Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability von Fattahi, Mahshid, Bushehri, Ata, Alavi, Afagh, Asghariazar, Vahid, Nozari, Ahoura, Ghasemi Firouzabadi, Saghar, Motamedian Dehkordi, Parisa, Javid, Marzieh, Farajzadeh Valiliou, Saeed, Karimian, Javad, Behjati, Farkhondeh

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

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A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations von Taghavi, Shaghayegh, Chaouni, Rita, Tafakhori, Abbas, Azcona, Luis J., Firouzabadi, Saghar Ghasemi, Omrani, Mir Davood, Jamshidi, Javad, Emamalizadeh, Babak, Shahidi, Gholam Ali, Ahmadi, Mona, Habibi, Seyed Amir Hassan, Ahmadifard, Azadeh, Fazeli, Atena, Motallebi, Marzieh, Petramfar, Peyman, Askarpour, Saeed, Askarpour, Shiva, Shahmohammadibeni, Hossein Ali, Shahmohammadibeni, Neda, Eftekhari, Hajar, Shafiei Zarneh, Amir Ehtesham, Mohammadihosseinabad, Saeed, Khorrami, Mehdi, Najmi, Safa, Chitsaz, Ahmad, Shokraeian, Parasto, Ehsanbakhsh, Hossein, Rezaeidian, Jalal, Ebrahimi Rad, Reza, Madadi, Faranak, Andarva, Monavvar, Alehabib, Elham, Atakhorrami, Minoo, Mortazavi, Seyed Erfan, Azimzadeh, Zahra, Bayat, Mahdis, Besharati, Amir Mohammad, Harati-Ghavi, Mohammad Ali, Omidvari, Samareh, Dehghani-Tafti, Zahra, Mohammadi, Faraz, Mohammad Hossein Pour, Banafsheh, Noorollahi Moghaddam, Hamid, Esmaili Shandiz, Ehsan, Habibi, Arman, Taherian-Esfahani, Zahra, Darvish, Hossein, Paisán-Ruiz, Coro

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