2025
Lettie E Rawlins, Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani, Joseph S Leslie, Nishanka Ubeyratna, Nasar Khan, Hamid Khan, Annarita Scardamaglia, Robin Cloarec, Shujaat Ali Khan, Muhammad Umair, Saeid Sadeghian, Hamid Galehdari, Almundher Al-Maawali, Adila Al-Kindi, Reza Azizimalamiri, Gholamreza Shariati, Faraz Ahmad, Amna Al-Futaisi, Pedro M Rodriguez Cruz, Ainara Salazar-Villacorta, Moustapha Ndiaye, Amadou G Diop, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Maha S Zaki, Barbara Vona, Daniel Owrang, Abdullah M Alhashem, Makram Obeid, Amjad Khan, Ahmad Beydoun, Marwan Najjar, Homa Tajsharghi, Giovanni Zifarelli, Peter Bauer, Wejdan S Hakami, Amal M Al Hashem, Rose-Mary N Boustany, Lydie Burglen, Shahryar Alavi, Adam C Gunning, Martina Owens, Ehsan G Karimiani, Joseph G Gleeson, Mathieu Milh, Somaya Salah, Jahangir Khan, Volker Haucke, Caroline F Wright, Lucy McGavin, Orly Elpeleg, Muhammad I Shabbir, Henry Houlden, Michael Ebner, Emma L Baple, Andrew H Crosby
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder. Genetics in Medicine. 2025 Feb 1;27(2):101278.
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng-Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, Anna V Derrick, Mark I Rees, Javeria Raza Alvi, Tipu Sultan, Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow, Grace Yoon, Michelle M Morrow, Deanna Alexis Carere, Mary O’Connor, Julie Fleischer, Erica H Gerkes, Chanika Phornphutkul, Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe, Semra Hiz Kurul, Didem Soydemir, Bulent Kara, Deniz Sunnetci-Akkoyunlu, Viktoria Bothe, Konrad Platzer, Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner, Ann-Charlotte Thuresson, Hans Matsson, Carina Frykholm, Sevcan Tuğ Bozdoğan, Atil Bisgin, Nicolas Chatron, Gaetan Lesca, Sara Cabet, Zeynep Tümer, Tina D Hjortshøj, Gitte Rønde, Thorsten Marquardt, Janine Reunert, Erum Afzal, Mina Zamani, Reza Azizimalamiri, Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung, Mohnish Suri, Paul J Benke, Maha S Zaki, Joseph G Gleeson, Daniel G Calame, Davut Pehlivan, Halil I Yilmaz, Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour, Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau, Sophie Julia, Jawaher Zeighami, Saeed Ashoori, Gholamreza Shariati, Alireza Sedaghat, Alihossein Sabri, Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin, Uzma Abdullah, Shahid Mahmood Baig, Wendy K Chung, Olga O Glazunova, Sigaudy Sabine, Huma Arshad Cheema, Giovanni Zifarelli, Peter Bauer, Jai Sidpra, Kshitij Mankad, Barbara Vona, Andrew E Fry, Gaurav K Varshney, Henry Houlden, Dragony Fu
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. The American Journal of Human Genetics. 2025 May 1;112(5):1117-38
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T Achleitner, Susann Badmann, Melanie Brugger, Theresa Brunet, Gisèle Bonne, Marta Codina, Laura Ebner, Peyman Eshraghi, Katharina Eyring, Ahmad Shah Farhat, René G Feichtinger, Elisabeth Graf, Anna Marcé-Grau, Andreas Hahn, Henry Houlden, Ehsan Ghayoor Karimiani, Véronique Manel, Katharina Mayerhanser, Juliette Nectoux, Isabelle Nelson, Rahul Phadke, Holger Prokisch, Saeid Sadeghian, Alice Saparov, Anne Schänzer, Ulrike Schara-Schmidt, Julia Schmidt, Rahel Schuler, Caroline Sewry, Gholamreza Shariati, Silke Slanz, Dmitrii Smirnov, Rivka Sukenik-Halevy, Homa Tajsharghi, Mehran Beiraghi Toosi, Laura Trujillano, Joachim Weis, Louise C Wilson, Rabah Ben Yaou, Mina Zamani, Michael Zech, Jana Zschüntzsch, Uwe Kornak, David Goméz-Andrés, Reza Maroofian, Juliane Winkelmann, Andreas Roos, Felix Distelmaier, Johannes A Mayr, Matias Wagner
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy. Brain. 2025 Jun 11:awaf227.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe, Naz Khan, William L Macken, Robert DS Pitceathly, Christopher J Record, Reza Maroofian, Kleopas Kleopa, Kyproula Christodoulou, Ataf Sabir, Lily Islam, Saikat Santra, Enise Avci Durmusalioglu, Tahir Atik, Esra Isik, Ozgur Cogulu, Jill E Urquhart, Glenda M Beaman, Leigh A Demain, Adam Jackson, Alexander JM Blakes, Helen J Byers, Hayley Bennett, Wei-Hsiang Lin, Antony Adamson, Sanjai Patel, Wyatt W Yue, Robert W Taylor, Janine Reunert, Thorsten Marquardt, Rebecca Buchert, Tobias Haack, Heike Losch, Lukas Ryba, Petra Lassuthova, Radka Valkovičová, Jana Haberlová, Barbora Lauerová, Eva Trúsiková, Kiran Polavarapu, Ozge Aksel Kilicarslan, Hanns Lochmüller, Mina Zamani, Niloofar Chamanrou, Gholamreza Shariati, Saeid Sadeghian, Reza Azizimalamiri, Sateesh Maddirevula, Muhammad AlMuhaizea, Fowzan S Alkuraya, Rita Horvath, Serdal Gungor, Adnan Manzur, Pinki Munot, Rachael Matthews, Siddharth Banka, Mary M Reilly, Daimark Bennett, Raymond T O’Keefe, William G Newman
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series. The Lancet Neurology. 2025 Aug 1;24(8):667-80.
Vicente Quiroz, Julian E Alecu, Umar Zubair, Katerina Bernardi, Zainab Zaman, Joshua Rong, Amy Tam, Avaneesh Kunta, Habibah P Agianda, Nicole Battaglia, Henri JD Schmidt, Dario Resch, Noah Wyman, Lindsey M Vogt, Wafa Bani Uraba, Leonie Becker, Kavitha Kothur, Deepak Gill, Bernardita Suarez, Javiera I Jofre, Carolina Arias, Claudia Castiglioni, Patricia Dumke da Silva Möller, Andre Felipe Pinto Duarte, Alexander Eggers-Lisboa, Loreto Ríos-Pohl, Magdalena Gonzalez-Ubilla, Chinmay Chaudhari, Ainara Salazar-Villacorta, Xiaojuan Tian, Lifang Dai, Changhong Ding, Mina Zamani, Pardis Nourbakhsh, Gholamreza Shariati, Tamara Pringsheim, Wei Kang Lim, Emanuele Bartolini, Maria Stamelou, Poonam Bhatia, Michael C Kruer, Soaham Desai, Mary Iype, Ján Necpál, David Crosiers, Hannah F Jones, Javier Ricardo Perez-Sanchez, Esra Demir Unal, Nuria Lopez-Ariztegui, Sruthi Kola, Wei-Sheng Lin, Alia Hassan Mansour, Chahnez Charfi Triki, Emilio Fernandez-Alvarez, Emmanuel Roze, Jitendra Sahu, Asif Doja, Nardo Nardocci, Davide Caputo, Anne Koy, Sanjay Bhate, Mario Kaliakatsos, Robert Robinson, Jane Hassell, Roser Pons, Alexander Munchau, Luca Soliani, Alonso Zea-Vera, Laura Tochen, Hugo Morales-Briceño, Russell C Dale, Alissa D’Gama, Tobias Loddenkemper, Phillip L Pearl, Shekeeb S Mohammad, Manju A Kurian, Carolina Gorodetsky, Juan Darío Ortigoza-Escobar, Luca Schierbaum, Kathryn Yang, Darius Ebrahimi-Fakhari
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients. Brain. 2025 Aug 14:awaf297.
Rezvan Zabihi, Mina Zamani, Niloofar Chamanrou, Jawaher Zeighami, Tahere Seifi, Saeed Ashoori, Sahere Parvas, Tahere Yadegari, Fateme Mousavi, Elham Khajevandian, Moslem Sarvari, Kobra Shojaei, Pardis Nourbakhsh, Bijan Keikhaei, Majid Aminzadeh, Raha Ahmadi, Marzieh Mohammadi Anaei, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Golamreza Shariati, Hamid Galehdari.
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran. Clinical Genetics. 2025 Sep 15.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D Clark, Jill A Rosenfeld, Carrie A Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique MC van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I Gold, Elisabeth Schuler, Amna Kashgari, Rakan F Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana HG Monje, Dimitri Krainc, Niccolò E Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R Lupski, Manju A Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth
Mutations in the key autophagy tethering factor EPG5 link neurodevelopmental and neurodegenerative disorders including early‐onset parkinsonism. Annals of neurology. 2025 Nov;98(5):932-50.
2024
Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen Van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper Van Der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon Van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain. 2024 Jan;147(1):311-24.
Rezvan Zabihi, Mina Zamani, Majid Aminzadeh, Niloofar Chamanrou, Fatemeh Zahra Kiani, Tahere Seifi, Jawaher Zeighami, Tahere Yadegari, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Gholamreza Shariati, Hamid Galehdari
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families. Frontiers in Genetics. 2024 Feb 15;15:1343094.
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, A Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human Genetics. 2024 Mar;143(3):311-29.
Lydia Green, Noémie Hamilton, Marilena Elpidorou, Reza Maroofian, Andrew GL Douglas, Katrin Õunap, Ailsa MS Rose, Erica L Harris, Stone Elworthy, Stephen A Renshaw, Elizabeth C Low, David H Dockrell, Kristian Tveten, Geoffrey Wells, Sarah A Harris, Almundher Al-Maawali, Khalid Al-Thihli, Sana Al-Zuhaibi, Amna Al Futaisi, Daniel Calame, Ivan Chinn, Kristen S Fisher, Mario Sa, Daniel Warren, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Tahere Seifi, Maha S Zaki, Erum Afzal, Mark A Tarnopolsky, Lauren Brady, Stephan L Zuchner, Stephanie Efthymiou, Annarita Scardamaglia, Henry Houlden, Emma Wakeling, Prab Prabhakar, Carla Roca-Bayerri, Gillian I Rice, Clément Prouteau, Céline Bris, Marine Tessarech, Inger Sandvig, Eamonn G Sheridan, Colin A Johnson, John H Livingston, Yanick J Crow, James A Poulter
Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alvares, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Carrie Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi-Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hannah Mandel, Amy Kimball, Antonie D Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique MC van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi-Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A Haridy, Pinar Ozkan Kart, Ali Cansu, Claire Beneteau, Kyra E Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Lander, Tania Attié-Bitach, Pauline Marzin, Dorota Wicher, Jessica I Gold, Mariana HG Monje, Dimitri Krainc, Niccolò Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Wendy K Chung, James R Lupski, Manju A Kurian, Jörg Dötsch, Jürgen-Christoph von Kleist-Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Carlo Dionisi-Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders. medRxiv. 2024 Jun 13:2024-06.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024 Jul;147(7):2471-82.
Juan Darío Ortigoza‐Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d’Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andres Moreno‐De‐Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 variants: a neurodevelopmental condition with progressive complex movement disorders. Movement Disorders. 2024 Sep;39(9):1624-30.
2023
Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran. Molecular Genetics & Genomic Medicine. 2023 Feb;11(2):e2099.
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. Clinical genetics. 2023 Mar;103(3):346-51.
Negar Noorbakhsh, Mina Zamani, Alireza Sedaghat, Jawaher Zeighami, Farangis Foroughi Behbahani, Sahere Parvas, Alihossein Saberi, Mohammad Hamid, Roya Ghanavati, Gholamreza Shariati, Hamid Galehdari
MEFV variants in familial mediterranean fever patients in southwest Iran. OBM Genetics. 2023 May;7(2):1-6.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 Dec;146(12):5031-43.
2022
Mina Zamani, Sahar Sedighzadeh, Tahereh Seifi, Samira Negahdari, Jawaher Zeighami, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran. Molecular Genetics and Genomics. 2022 Sep;297(5):1289-300.
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Genevieve Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M Khalaf, Mohamed S Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M Elbendary, Garry Brown, Robert W Taylor, Hamid Galehdari, Joseph J Gleeson, Christopher J Carroll, James A Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Phenotypic continuum of NFU1‐related disorders. Annals of Clinical and Translational Neurology. 2022 Dec;9(12):2025-35.
Luis Carlos Tabara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund RS Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain. 2022 Sep 1;145(9):3095-107.
2021
Mina Zamani, Tahereh Seifi, Sahar Sedighzadeh, Samira Negahdari, Jawaher Zeighami, Alireza Sedaghat, Tahereh Yadegari, Alihossein Saberi, Mohammad Hamid, Gholamreza Shariati, Hamid Galehdari
Whole-exome sequencing application for genetic diagnosis of kidney diseases: A study from southwest of Iran. Kidney360. 2021 May 1;2(5):873-7.
Sahar Sadat Sedighzadeh, Alireza Sedaghat, Mina Zamani, Tahere Seifi, Gholamreza Shariati, Jawaher Zeighami, Neda Mazaheri, Hamid Galehdari
Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly. Congenital Anomalies. 2021 Nov;61(6):220-5.
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna CE Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, Undiagnosed Diseases Network, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha S Zaki, Reza Maroofian, Joseph G Gleeson
relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics. 2021 Feb;29(2):271-9.
Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, Mehrnoush Toufan Tabrizi, Alex Yui Bong Wan, Reza Maroofian, Mohammad Yazdchi, Michael Leon Enrique Garcia, Hamid Galehdari, Camila Hesse, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, Hayley Goullee, Nigel Laing, Yalda Jamshidi, Homa Tajsharghi
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. Genetics in Medicine. 2021 Apr;23(4):787-92.
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard JH Smith, Thomas Haaf, Aziz El-Amraoui, Michael R Bowl, Gaurav K Varshney, Hamid Galehdari
biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human genetics. 2021 Jun;140(6):915-31.
Holger Hengel, Shabab B Hannan, Sarah Dyack, Sara B MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S Alkuraya, Hamad Alzaidan, Hessa S Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R Lupski, Joseph J Gleeson, Mohammadreza Dehghani, Mohammad YV Mehrjardi, Elliott H Sherr, Kendall C Parks, Emanuela Argilli, Amber Begtrup, Hamid Galehdari, Osama Balousha, Gholamreza Shariati, Neda Mazaheri, Reza A Malamiri, Alistair T Pagnamenta, Helen Kingston, Siddharth Banka, Adam Jackson, Mathew Osmond, Angelika Rieß, Tobias B Haack, Thomas Nägele, Stefanie Schuster, Stefan Hauser, Jakob Admard, Nicolas Casadei, Ana Velic, Boris Macek, Stephan Ossowski, Henry Houlden, Reza Maroofian, Ludger Schöls
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics. 2021 Jun 3;108(6):1069-82.
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. Journal of Medical Genetics. 2021 Jul 1;58(7):495-504.
Sheng-Jia Lin, Barbara Vona, Patricia G Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T Pagnamenta, Gudrun Aubertin, Juvianee I Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z Elloumi, Sara Mora, Timothy B Palculict, Hui Yang, Jonathan D Wren, Ben Fowler, Manali Joshi, Martine Behra, Shawn M Burgess, Swapan K Nath, Michael G Hanna, Margaret Kenna, J Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S Zaki, Thomas Haaf, Fowzan S Alkuraya, Joseph G Gleeson, Gaurav K Varshney
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in Medicine. 2021 Oct;23(10):1933-43.
Marjolein JA Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J Cardona-Londoño, Karla A Peña-Guerra, Yolande van Bever, Barbara W van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M Allen, Caroline M Kehoe, Hannah K Robinson, Lewis Pang, Selina H Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M Leal, Claudia AL Ruivenkamp, Daniela QCM Barge-Schaapveld, Cacha MPCD Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K Chinn, James R Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J Lawrence Merritt II, Ghayda M Mirzaa, Andrew E Timms, Joshua Scheck, Mariet W Elting, Abeltje M Polstra, Lauren Schenck, Maura RZ Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C Koboldt, Theresa Mihalic Mosher, Matthew T Pastore, Kim L McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D Turnpenny, Bert BA de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R Braddock, Kara C Klemp, Fleur Vansenne, Marielle E van Gijn, Catherine Quindipan, Matthew A Deardorff, J Austin Hamm, Abbey M Putnam, Rebecca Baud, Laurence Walsh, Sally A Lynch, Julia Baptista, Richard E Person, Kristin G Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T Arold, Tahsin Stefan Barakat, Genomics England Research Consortium
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine. 2021 Nov 1;23(11):2122-37.
Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia Ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond, SYNAPS Study Group
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Journal of medical genetics. 2021 Dec 1;58(12):815-31.
2020
Samira Negahdari, Mina Zamani, Tahereh Seifi, Sahar Sedighzadeh, Neda Mazaheri, Jawaher Zeighami, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Ramin Radpour, Gholamreza Shariati, Hamid Galehdari
Identification of three novel mutations in the FANCA, FANCC, and ITGA2B genes by whole exome sequencing. International journal of preventive medicine. 2020 Jan 1;11(1):117.
Mina Zamani, Gholamreza Shariati, Tahereh Seifi, Alireza Sedaghat, Hamid Galehdari
Characterization of a novel pathogenic variation c. 1237T> G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy. Intractable & Rare Diseases Research. 2020 Feb 29;9(1):48-53.
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome. Basic and Clinical Neuroscience. 2020 Jul 1;11(4):549.
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T Booth, Sandrine Vitry, Aboulfazl Rad, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Shruthi VijayKumar, Richard JH Smith, Thomas Haaf, Aziz El-Amraoui, Michael R Bowl, Gaurav K Varshney, Hamid Galehdari
Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans. bioRxiv. 2020 Jul 29:2020-07.
Paige B Martin, Yu Kigoshi-Tansho, Roger B Sher, Gianina Ravenscroft, Jennifer E Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A Faqeih, Naif AM Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E Posey, Monique Ryan, James R Lupski, Nigel G Laing, Claudio AP Joazeiro, Gregory A Cox
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature communications. 2020 Sep 15;11(1):4625.
2019
Caroline M Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stephanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehlivan, Jennifer N Partlow, Jennifer E Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M Al Menabawy, Laila A Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, Daniel L Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller-Ramey, Leslie Durham, Zeynep Coban-Akdemir, Ender Karaca, Valeria Orlova, Lieke LM Schaeken, Amir Sherafat, Shalini N Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G Gleeson, Christopher A Walsh, James R Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian
Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder. The American Journal of Human Genetics. 2019 Nov 7;105(5):1048-56.
Devesh C Pant, Imen Dorboz, Agatha Schluter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera-Albesa, Maria Eugenia Yoldi, Carlos Casasnovas, Mary J Willis, Montserrat Ruiz, Dorothée Ville, Gaetan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N James, Damir Musaev, Maha S Zaki, Marc C Patterson, Brendan C Lanpher, Eric W Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Lygia de M Sobreira, Julie S Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug-Tanguy, Aurora Pujol
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of clinical investigation. 2019 Mar 1;129(3):1240-56.
Edward G Jones, Neda Mazaheri, Reza Maroofian, Mina Zamani, Tahereh Seifi, Alireza Sedaghat, Gholamreza Shariati, Yalda Jamshidi, Hugh D Allen, Xander HT Wehrens, Hamid Galehdari, Andrew P Landstrom
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. Scientific reports. 2019 Jun 21;9(1):9038.
V Muto, E Flex, Z Kupchinsky, G Primiano, H Galehdari, M Dehghani, S Cecchetti, G Carpentieri, T Rizza, N Mazaheri, A Sedaghat, M Mehrjardi, A Traversa, M Di Nottia, M Kousi, Y Jamshidi, A Ciolfi, V Caputo, R Malamiri, F Pantaleoni, S Martinelli, A Jeffries, J Zeighami, A Sherafat, D Di Giuda, G Shariati, R Carrozzo, N Katsanis, R Maroofian, S Servidei, M Tartaglia
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. 2018 Jul 24;91(4):e319-30.
Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak
Genotype-phenotype correlations in Charcot-Marie-Tooth disease due to MTMR2 mutations and implications in membrane trafficking. Frontiers in Neuroscience. 2019 Oct 14;13:974.
Caroline M Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stephanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehlivan, Jennifer N Partlow, Jennifer E Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M Al Menabawy, Laila A Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, Daniel L Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller-Ramey, Leslie Durham, Zeynep Coban-Akdemir, Ender Karaca, Valeria Orlova, Lieke LM Schaeken, Amir Sherafat, Shalini N Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G Gleeson, Christopher A Walsh, James R Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian
Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder. The American Journal of Human Genetics. 2019 Nov 7;105(5):1048-56.
2018
Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Celine Bris, David Goudenege, Andrea Legati, Reza Maroofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E White, Steven A Hardy, Ines A Barbosa, Michael A Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B Haack, Jean-Michel Rozet, Robert W Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers
Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA neurology. 2018 Jan 1;75(1):105-13.
Valentina Muto, Elisabetta Flex, Zachary Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria M Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholam Reza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. 2018 Jul 24;91(4):e319-30.
Mayada Helal, Neda Mazaheri, Bita Shalbafan, Reza Azizi Malamiri, Nafi Dilaver, Rebecca Buchert, Javad Mohammadiasl, Neda Golchin, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Tobias B Haack, Olaf Riess, Wendy K Chung, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurological Sciences. 2018 Nov;39(11):1917-25.
2017
Daniel PS Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjögren syndrome and dystroglycanopathy. The American Journal of Human Genetics. 2017 Mar 2;100(3):537-45.
Mert Karakaya, Neda Mazaheri, Ipek Polat, Diana Bharucha-Goebel, Sandra Donkervoort, Reza Maroofian, Gholamreza Shariati, Irmgard Hoelker, Kristin Monaghan, Sara Winchester, Robert Zori, Hamid Galehdari, Carsten G Bönnemann, Uluc Yis, Brunhilde Wirth
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. Brain. 2017 Oct 1;140(10):e65-.
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Novel homozygous missense mutation in RYR1 leads to severe congenital ptosis, ophthalmoplegia, and scoliosis in the absence of myopathy. Molecular Syndromology. 2017 Dec 20;9(1):25-9.
2014
Mohammad Hamid, Gholamreza Shariati, Ali Hossein Saberi, Bijan Kaikhaei, Hamid Galehdari, Marziye Mohammadi-Anaei
Identification of IVS-I (-1)(G> C) or Hb Monroe as a Report on the Beta-globin Gene with a Beta-thalassemia Minor Phenotype in South of Iran. Archives of Iranian Medicine. 2013 Sep 1;16(9):0-.
Mohammad Hamid, Gholamreza Shariati, Alihossein Saberi, Hamid Galehdari, Bijan Kaikhaei, Marziye Mohammadi-Anaei
Hb AHVAZ [α 83 (F4) Leu→ Arg, CT G> CGG (α 2); HBA2: c. 251T> G], A New Hemoglobin Variant of the α 2-Globin Gene. Hemoglobin. 2013 Oct 1;37(5):477-80.
Hamid Galehdari, Gholamreza Shariati, Mohammad Hamid, Leila Koorechinzade
Lack of Pathogenic Mutation in the Human CAII Gene in an Individual Suffering Renal Tubular Acidosis. Journal of Pediatric Nephrology. 2014 Apr 1;2(2).
Atousa Hafizi, Saeid Reza Khatami, Hamid Galehdari, Gholamreza Shariati, Ali Hossein Saberi, Mohammad Hamid
Hafizi A, Khatami SR, Galehdari H, Shariati G, Saberi AH, Hamid M. Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease. Iranian Biomedical Journal. 2014 Jul;18(3):143.
Mohammad Hamid, Hanieh Bokharaei, Hamid Galehdari, Ali Hossein Saberi, Bijan Kaikhaei, Marziye Mohammadi-Anaei, Ahmad Ahmadzadeh
A novel alpha-thalassemia nonsense mutation in HBA2: C. 382 A> T globin gene. Archives of Iranian Medicine. 2014 Jul 1;17(7):0-.
Gholamreza Shariati, Mohammad Hamid, Alihossein Saberi, Behnaz Andashti, Hamid Galehdari
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. Clinical Case Reports. 2014 Nov 26;3(2):114.
Alihossein Saberi, Gholamreza Shariati, Mohammad Hamid, Hamid Galehdari, Nehzat Abdorasouli
Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH). Archives of Iranian Medicine. 2014 Sep 1;17(9):0-.
2013
ALI HOSSEIN SABERI, GHOLAMREZA SHARIATI, MOHAMMAD HAMID, Nehzat Abdorasuli, HAMID GALEHDARI
SMALL DELETION OF 7Q11. 23 REGION IMPLICATE GENES INVOLVED IN INTELLECTUAL DISABILITY, HEART PROBLEMS AND DISTINCTIVE FACIAL FEATURES.