Article

Boonsawat, Paranchai, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:10.1016/j.ajhg.2024.07.016)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Delvendahl, Igor, Muff, Rebecca, Tan, Ge, Rodríguez, Daymé González, Turan, Soeren, Russo, Martina, Oneda, Beatrice, Joset, Pascal, Boonsawat, Paranchai, Masood, Rahim, Mocera, Martina, Ivanovski, Ivan, Baumer, Alessandra, Bachmann-Gagescu, Ruxandra, Schlapbach, Ralph, Rehrauer, Hubert, Steindl, Katharina, Begemann, Anaïs, Reis, André, Winkler, Jürgen, Winner, Beate, Müller, Martin and Rauch, Anita (2023) Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32 (13). pp. 2192-2204. ISSN 0964-6906 (Print), 1460-2083 (Online) (doi:10.1093/hmg/ddad048)

Krumm, Laura, Pozner, Tatyana, Kaindl, Johanna, Regensburger, Martin, Günther, Claudia, Turan, Soeren, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Rauch, Anita and Winner, Beate (2021) Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56:102520. ISSN 1873-5061 (doi:10.1016/j.scr.2021.102520)

Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23 (6). pp. 1028-1040. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:10.1038/s41436-021-01114-z)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev ORCID: https://orcid.org/0000-0003-2451-8165, Meier, Urs R. and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2020) Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene). Molecular Genetics and Genomic Medicine, 8 (10):e1409. ISSN 2324-9269 (Online) (doi:10.1002/mgg3.1409)

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:10.1038/s41436-019-0464-7)

Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Sticht, Heinrich, Zeilhofer, Hanns Ulrich and Rauch, Anita (2019) Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25 (1). ISSN 1076-1551 (Print), 1528-3658 (Online) (doi:10.1186/s10020-019-0073-6)

Popp, Bernt ORCID: https://orcid.org/0000-0002-3679-1081, Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias ORCID: https://orcid.org/0000-0002-4147-8866, Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B. ORCID: https://orcid.org/0000-0001-6099-7066, Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Regensburger, Martin ORCID: https://orcid.org/0000-0002-2172-7386, Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André ORCID: https://orcid.org/0000-0002-6301-6363 (2018) Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium. Scientific reports, 8:17201. ISSN 2045-2322 (Online) (doi:10.1038/s41598-018-35506-0)

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich and Zweier, Christiane (2018) De Novo Variants in the F-Box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. American Journal of Human Genetics, 103 (2). pp. 305-316. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:10.1016/j.ajhg.2018.07.003)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID: https://orcid.org/0000-0001-5644-045X, Steindl, Katharina and Rauch, Anita (2017) Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60 (9). pp. 451-464. ISSN 1769-7212 (doi:10.1016/j.ejmg.2017.06.004)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564 (2016) Inspirations in medical genetics. Journal of Medical Biography, 24 (1). pp. 138-140. ISSN 0967-7720 (Print), 1758-1087 (Online) (doi:10.1177/0967772014525097)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita (2013) Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21 (10). pp. 1100-1104. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/ejhg.2013.17)

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564 and Asadollahi, Hamid (2013) Avicenna’s view on medical genetics. Genetics in Medicine, 15 (5). pp. 410-411. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:10.1038/gim.2013.27)