Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases

por Ravanbod, Shirin, Faranoush, Mohammad, Changi-Ashtiani, Majid, Rokni-Zadeh, Hassan, Shahani, Tina
Publicado 2022

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases

por Sadeghi, Payman, Esslami, Golnaz Ghazizadeh, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Mohsenipour, Reihaneh
Publicado 2022

Draft Genome Sequence of Pseudomonas gingeri Strain LMG 5327, the Causative Agent of Ginger Blotch in Agaricus bisporus

por Bahrami, Tahereh, Zarvandi, Samira, De Mot, René, Gross, Harald, Changi-Ashtiani, Majid, Shahani, Tina, Rokni-Zadeh, Hassan
Publicado 2018

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic hete...

por Kalayinia, Samira, Maleki, Majid, Rokni‐Zadeh, Hassan, Changi‐Ashtiani, Majid, Ahangar, Hassan, Biglari, Alireza, Shahani, Tina, Mahdieh, Nejat
Publicado 2019

Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth

por Mohsenpour, Neda, Roknizadeh, Hassan, Maghbooli, Mehdi, Changi-Ashtiani, Majid, Shahrooei, Mohammad, Salehi, Mansoor, Behnam, Mahdiyeh, Shahani, Tina, Biglari, Alireza
Publicado 2019

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

por Hernandez, Nicholas, Bucciol, Giorgia, Moens, Leen, Le Pen, Jérémie, Shahrooei, Mohammad, Goudouris, Ekaterini, Shirkani, Afshin, Changi-Ashtiani, Majid, Rokni-Zadeh, Hassan, Sayar, Esra Hazar, Reisli, Ismail, Lefevre-Utile, Alain, Zijlmans, Dick, Jurado, Andrea, Pholien, Ruben, Drutman, Scott, Belkaya, Serkan, Cobat, Aurelie, Boudewijns, Robbert, Jochmans, Dirk, Neyts, Johan, Seeleuthner, Yoann, Lorenzo-Diaz, Lazaro, Enemchukwu, Chibuzo, Tietjen, Ian, Hoffmann, Hans-Heinrich, Momenilandi, Mana, Pöyhönen, Laura, Siqueira, Marilda M., de Lima, Sheila M. Barbosa, de Souza Matos, Denise C., Homma, Akira, Maia, Maria de Lourdes S., da Costa Barros, Tamiris Azamor, de Oliveira, Patricia Mouta Nunes, Mesquita, Emersom Ciclini, Gijsbers, Rik, Zhang, Shen-Ying, Seligman, Stephen J., Abel, Laurent, Hertzog, Paul, Marr, Nico, Martins, Reinaldo de Menezes, Meyts, Isabelle, Zhang, Qian, MacDonald, Margaret R., Rice, Charles M., Casanova, Jean-Laurent, Jouanguy, Emmanuelle, Bossuyt, Xavier
Publicado 2019

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023