Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

od Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro
izdano v NPJ Genom Med (2017)

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

od Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
izdano v Neurol Genet (2017)

Molecular characterization of PRKN structural variations identified through whole‐genome sequencing

od Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán‐Ruiz, Coro
izdano v Mol Genet Genomic Med (2018)

Identification of a large homozygous VPS13C deletion in a patient with early-onset parkinsonism

od Darvish, Hossein, Bravo, Paloma, Tafakhori, Abbas, Azcona, Luis J., Ranji-Burachaloo, Sakineh, Johari, Amir Hossein, Paisán-Ruiz, Coro
izdano v Mov Disord (2018)

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

od Darvish, Hossein, Azcona, Luis J., Alehabib, Elham, Jamali, Faezeh, Tafakhori, Abbas, Ranji-Burachaloo, Sakineh, Jen, Joanna C., Paisán-Ruiz, Coro
izdano v Neurol Genet (2019)

Genetic screening in two Iranian families with early onset Alzheimer’s disease identified a novel PSEN1 mutation

od Wang, Jen-Chyong, Alinaghia, Somayeh, Tafakhori, Abbas, Sikora, Elizabeth, Azcona, Luis J., Karkheiran, Siamak, Goate, Alison, Paisán-Ruiz, Coro, Darvish, Hossein
izdano v Neurobiol Aging (2017)

PTRHD1 (C2orf79) mutations lead to autosomal recessive intellectual disability and parkinsonism

od Khodadadi, Hamidreza, Azcona, Luis J., Aghamollaii, Vajiheh, Omrani, Mir Davood, Garshasbi, Masoud, Taghavi, Shaghayegh, Tafakhori, Abbas, Shahidi, Gholam Ali, Jamshidi, Javad, Darvish, Hossein, Paisán-Ruiz, Coro
izdano v Mov Disord (2016)

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

od Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Mesias, Roxana, Ahmadifard, Azadeh, Sanchez, Elena, Habibi, Arman, Alehabib, Elham, Johari, Amir Hossein, Emamalizadeh, Babak, Jamali, Faezeh, Chapi, Marjan, Jamshidi, Javad, Kajiwara, Yuji, Paisán-Ruiz, Coro
izdano v Sci Rep (2020)

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

od 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, Zarneh, Amir Ehtesham Shafiei, Mohammadihosseinabad, Saeed, Khorrami, Mehdi, Najmi, Safa, Chitsaz, Ahmad, Shokraeian, Parasto, Ehsanbakhsh, Hossein, Rezaeidian, Jalal, Rad, Reza Ebrahimi, 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, Pour, Banafsheh Mohammad Hossein, Moghaddam, Hamid Noorollahi, Shandiz, Ehsan Esmaili, Habibi, Arman, Taherian-Esfahani, Zahra, Darvish, Hossein, Paisán-Ruiz, Coro
izdano v Mol Neurobiol (2017)