The Many Faces of DFNB9: Relating <i>OTOF</i> Variants to Hearing Impairment by Barbara Vona, Aboulfazl Rad, Ellen Reisinger

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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases by Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

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Unraveling haplotype errors in the DFNA33 locus by Barbara Vona, Barbara Vona, Barbara Vona, Sabrina Regele, Aboulfazl Rad, Nicola Strenzke, Justin A. Pater, Justin A. Pater, Katrin Neumann, Marc Sturm, Tobias B. Haack, Tobias B. Haack, Antoinette G. Am Zehnhoff-Dinnesen

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Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome by Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

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Biallelic loss of EMC10 leads to mild to severe intellectual disability by Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

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KDM5A mutations identified in autism spectrum disorder using forward genetics by Lauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, Jamie Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S Alsaif, Aboulfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R DuPont, Raymond J Louie, CAUSES Study, Madeline Couse, Maha Faden, R Curtis Rogers, Rami Abou Jamra, Ellen R Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H Chahrour

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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity by Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases by Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

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