Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients by Meysam Mosallaei, Naeim Ehtesham, Maryam Beheshtian, Shahrouz Khoshbakht, Behzad Davarnia, Kimia Kahrizi, Hossein Najmabadi

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Iran′s Multiple Indicator Demographic and Health Survey - 2010: Study Protocol by Arash Rashidian, Akram Karimi-Shahanjarini, Ardeshir Khosravi, Elham Elahi, Maryam Beheshtian, Elham Shakibazadeh, Roghayeh Khabiri, Mohammad Arab, Mohammad-Reza Zakeri

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P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006 by Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoume Akbari, Fariba Afrozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Ariana Kariminejad, Kimia Kahrizi, Hossein Najmabadi

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Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability by Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian, Seyedeh Sedigheh Abedini, Sanaz Arzhangi, Hans‐Hilger Ropers, Vera M. Kalscheuer, Daniel Auld, Kimia Kahrizi, Yasser Riazalhosseini, Hossein Najmabadi

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period by Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI

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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

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Distinct genetic variation and heterogeneity of the Iranian population. by Zohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, Hossein Poustchi, Fariba Ardalani, Khadijeh Jalalvand, Sanaz Arzhangi, Zahra Mohammadi, Shahrouz Khoshbakht, Farid Najafi, Pooneh Nikuei, Mohammad Haddadi, Elham Zohrehvand, Morteza Oladnabi, Akbar Mohammadzadeh, Mandana Hadi Jafari, Tara Akhtarkhavari, Ehsan Shamsi Gooshki, Aliakbar Haghdoost, Reza Najafipour, Lisa-Marie Niestroj, Barbara Helwing, Yasmina Gossmann, Mohammad Reza Toliat, Reza Malekzadeh, Peter Nürnberg, Kimia Kahrizi, Hossein Najmabadi, Michael Nothnagel

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi

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