The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment von Vona, Barbara, Rad, Aboulfazl, Reisinger, Ellen

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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans von Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., Galehdari, Hamid

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome von Rad, Aboulfazl, Najafi, Maryam, Suri, Fatemeh, Abedini, Soheila, Loum, Stephen, Karimiani, Ehsan Ghayoor, Daftarian, Narsis, Murphy, David, Doosti, Mohammad, Moghaddasi, Afrooz, Ahmadieh, Hamid, Sabbaghi, Hamideh, Rajati, Mohsen, Hashemi, Narges, Vona, Barbara, Schmidts, Miriam

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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment von Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, Arenas-Sordo, Maria de la Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas

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

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Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy von Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry

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

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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 von Koparir, Asuman, Lekszas, Caroline, Keseroglu, Kemal, Rose, Thalia, Rappl, Lena, Rad, Aboulfazl, Maroofian, Reza, Narendran, Nakul, Hasanzadeh, Atefeh, Karimiani, Ehsan Ghayoor, Boschann, Felix, Kornak, Uwe, Klopocki, Eva, Özbudak, Ertuğrul M, Vona, Barbara, Haaf, Thomas, Liedtke, Daniel

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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients von Doll, Julia, Kolb, Susanne, Schnapp, Linda, Rad, Aboulfazl, Ruschendorf, Franz, Khan, Imran, Adli, Abolfazl, Hasanzadeh, Atefeh, Liedtke, Daniel, Knaup, Sabine, Hofrichter, Michaela A. H., Mueller, Tobias, Dittrich, Marcus, Kong, Il-Keun, Kim, Hyung-Goo, Haaf, Thomas, Vona, Barbara

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

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

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Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature von Rad, Aboulfazl, Bartsch, Oliver, Bakhtiari, Somayeh, Zhu, Changlian, Xu, Yiran, Monteiro, Fabíola P., Kok, Fernando, Vulto‐van Silfhout, Anneke T., Kruer, Michael C., Bowl, Michael R., Vona, Barbara

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Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus von Rad, Aboulfazl, Schade‐Mann, Thore, Gamerdinger, Philipp, Yanus, Grigoriy A., Schulte, Björn, Müller, Marcus, Imyanitov, Evgeny N., Biskup, Saskia, Löwenheim, Hubert, Tropitzsch, Anke, Vona, Barbara

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders von Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation von Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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Loss of tissue-type plasminogen activator causes multiple developmental anomalies von Uguen, Kevin, Frey, Tanja, Muthaffar, Osama, Décarie, Jean-Claude, Ameziane, Najim, Boissel, Sarah, Baradaran-Heravi, Yalda, Rauch, Anita, Oprea, Gabriela, Rad, Aboulfazl, Steindl, Katharina, Michaud, Jacques L

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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities von Kaiyrzhanov, Rauan, Zaki, Maha S., Maroofian, Reza, Dominik, Natalia, Rad, Aboulfazl, Vona, Barbara, Houlden, Henry

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish von Lin, Sheng-Jia, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Kenna, Margaret, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies von Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan

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

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