by Weisschuh, Nicole, Sturm, Marc, Baumann, Britta, Audo, Isabelle, Ayuso, Carmen, Bocquet, Beatrice, Branham, Kari, Brooks, Brian P., Catalá‐Mora, Jaume, Giorda, Roberto, Heckenlively, John R., Hufnagel, Robert B., Jacobson, Samuel G., Kellner, Ulrich, Kitsiou‐Tzeli, Sofia, Matet, Alexandre, Martorell Sampol, Loreto, Meunier, Isabelle, Rudolph, Günther, Sharon, Dror, Stingl, Katarina, Streubel, Berthold, Varsányi, Balázs, Wissinger, Bernd, Kohl, Susanne
Published in Human mutation (01.01.2020)

by Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (11.10.2019)

by Kim, Jee Ah, Jang, Mi‐Ae, Jang, Shin Yi, Kim, Duk‐Kyung, Kim, Young‐gon, Kim, Jong‐Won, Park, Taek Kyu, Jang, Ja‐Hyun
Published in Journal of clinical laboratory analysis (01.01.2024)

by Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
Published in HGG advances (13.04.2023)

by Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele
Published in Journal of human genetics (01.05.2018)

by Nabavizadeh, Nasrinsadat, Bressin, Annkatrin, Shboul, Mohammad, Moreno Traspas, Ricardo, Chia, Poh Hui, Bonnard, Carine, Szenker‐Ravi, Emmanuelle, Sarıbaş, Burak, Beillard, Emmanuel, Altunoglu, Umut, Hojati, Zohreh, Drutman, Scott, Freier, Susanne, El‐Khateeb, Mohammad, Fathallah, Rajaa, Casanova, Jean‐Laurent, Soror, Wesam, Arafat, Alaa, Escande‐Beillard, Nathalie, Mayer, Andreas, Reversade, Bruno
Published in EMBO molecular medicine (08.02.2023)

by Upadhyai, Priyanka, Radhakrishnan, Periyasamy, Guleria, Vishal S., Kausthubham, Neethukrishna, Nayak, Shalini S., Superti‐Furga, Andrea, Girisha, Katta M.
Published in Human mutation (01.08.2021)

by Chang, Haoyu, Zhang, Xin, Xu, Ke, Li, Nien, Xie, Yue, Yan, Weiyu, Li, Yang
Published in Genes (13.01.2023)

by Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie
Published in International journal of molecular sciences (15.06.2021)

by Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano
Published in Journal of human genetics (01.12.2016)

by Liu, Yingwen, Yan, Lulu, Zhang, Yuxin, Han, Chunxiao, Chen, Changshui, Li, Haibo, Zhang, Yahua
Published in Genes & genomics (01.09.2025)

by Nassisi, Marco, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Boyard, Fiona, Démontant, Vanessa, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Foussard, Marine, Méjécase, Cécile, Eandi, Chiara, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (27.07.2018)

by Chiara, Matteo, Primon, Ilaria, Tarantini, Letizia, Agnelli, Luca, Brancaleoni, Valentina, Granata, Francesca, Bollati, Valentina, Di Pierro, Elena
Published in Genetics in medicine (01.01.2020)

by Cottrell, Emily, Maharaj, Avinaash, Williams, Jack, Chatterjee, Sumana, Cirillo, Grazia, Miraglia del Giudice, Emanuele, Festa, Adalgisa, Palumbo, Stefania, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Savage, Martin O, Schilbach, Katharina, Bidlingmaier, Martin, Hwa, Vivian, Metherell, Louise A, Grandone, Anna, Storr, Helen L
Published in The journal of clinical endocrinology and metabolism (28.07.2021)

by Parad, Richard B., Kaler, Stephen G., Mauceli, Evan, Sokolsky, Tanya, Yi, Ling, Bhattacharjee, Arindam
Published in Molecular genetics and metabolism reports (01.09.2020)

by Zhang, Zhengmao, Blumenfeld, Jon, Ramnauth, Andrew, Barash, Irina, Zhou, Pengbo, Levine, Daniel, Parker, Thomas, Rennert, Hanna
Published in Clinical genetics (01.12.2022)