Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders von Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study von Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

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The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease von Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey

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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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Yunis-Varón syndrome: the first report of two Iranian cases von Hadipour, Zahra, Shafeghati, Yousef, Hadipour, Fatemeh

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Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family von Hadipour, Fatemeh, Shafeghati, Yousef, Bagherizadeh, Eiman, Behjati, Farkhondeh, Hadipour, Zahra

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Bile Acid Synthesis Disorder, the First Reported Case from Iran, (Proven by Genetic Study), How the Unavailability of Drug Affected the Course of Treatment von Mahjoub, Fatemeh Elham, Motamed, Farzaneh, Niknejad, Nakisa, Farahmand, Fatemeh, Hadipour, Fatemeh, Asili, Pooria

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Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study von Curado, Filipa, Grittner, Ulrike, Skrahina, Volha, Malik, Ahmed, Beetz, Christian, Dinur, Tama, Anjum, Nadeem, Krioule, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

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Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran von Moravej, Hossein, Inaloo, Soroor, Nahid, Saman, Mazloumi, Shokrollah, Nemati, Hamid, Moosavian, Toktam, Nasiri, Jafar, Ghasemi, Fariba, Alaei, Mohammad Reza, Dalili, Setila, Aminzadeh, Majid, Katibeh, Pegah, Amirhakimi, Anis, Yazdani, Negar, Ilkhanipoor, Homa, Afshar, Zhila, Hadipour, Fatemeh, Hadipour, Zahra

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome von Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

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A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome von Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Rutledge, S. Lane, Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patricia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.

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The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions von Reddy, Ramesh, Nguyen, Ngoc M P, Sarrabay, Guillaume, Rezaei, Maryam, Rivas, Mayra C G, Kavasoglu, Aysenur, Berkil, Hakan, Elshafey, Alaa, Abdalla, Ebtesam, Nunez, Kristin P, Dreyfus, Hélène, Philippe, Merviel, Hadipour, Zahra, Durmaz, Asude, Eaton, Erin E, Schubert, Brittany, Ulker, Volkan, Hadipour, Fatemeh, Ahmadpour, Fatemeh, Touitou, Isabelle, Fardaei, Majid, Slim, Rima

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The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease von Germain, Dominique P., Ismaili, Faisal Al, Al-Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Kramis, Mirelle, Moiseev, Sergey, Nampoothiri, Sheela, Niu, Dau-Ming, Politei, Juan, Ro, Long-Sun, Suárez-Obando, Fernando, Vu, Dung C., Kutsev, Sergey

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The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions von Reddy, Ramesh, Nguyen, Ngoc M P, Sarrabay, Guillaume, Rezaei, Maryam, Rivas, Mayra C G, Kavasoglu, Aysenur, Berkil, Hakan, Elshafey, Alaa, Abdalla, Ebtesam, Nunez, Kristin P, Dreyfus, Hélène, Philippe, Merviel, Hadipour, Zahra, Durmaz, Asude, Eaton, Erin E, Schubert, Brittany, Ulker, Volkan, Hadipour, Fatemeh, Touitou, Isabelle, Fardaei, Majid, Slim, Rima

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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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Erratum: The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions von Reddy, Ramesh, Nguyen, Ngoc M P, Sarrabay, Guillaume, Rezaei, Maryam, Rivas, Mayra C G, Kavasoglu, Aysenur, Berkil, Hakan, Elshafey, Alaa, Abdalla, Ebtesam, Nunez, Kristin P, Dreyfus, Hélène, Philippe, Merviel, Hadipour, Zahra, Durmaz, Asude, Eaton, Erin E, Schubert, Brittany, Ulker, Volkan, Hadipour, Fatemeh, Touitou, Isabelle, Fardaei, Majid, Slim, Rima

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Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients von Solyom, Alexander, Mitchell, John, Ehlert, Karoline, Tanpaiboon, Pranoot, Magnusson, Bo, Grigelioniene, Giedre, Hügle, Boris, Guelbert, Norberto, Arslan, Nur, Makay, Balahan, Ozen, Seza, Batu, Ezgi Deniz, Selim, Laila, Hadipour, Zahra, Hadipour, Fatemeh, Cuevas-Cid, Alejandra, Puri, Ratna, Simonaro, Calogera, He, Xingxuan, Schuchman, Edward

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Phenotypical characterization of 13q deletion syndrome: Report of two cases von Bagherizadeh, Eiman, Shafaghati, Yousef, Hadipour, Fatemeh, Behjati, Farkhondeh

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Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature von Hadipour, Fatemeh, Sarkheil, Peymaneh, Noruzinia, Mehrdad, Hadipour, Zahra, Baghdadi, Taghi, Shafeghati, Yousef

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C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I von Salamian, Ahmad, Mohamadynejad, Parisa, Ghaedi, Kamran, Nejati, Alireza Shoaraye, Shafeghati, Yousef, Ahnak, Mehdi Borhani, Nematollahi, Marzieh, Karbalaie, Khadijeh, Hadipour, Fatemeh, Baharvand, Hossein, Nasr-Esfahani, Mohammad Hossein

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