Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels von Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit

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13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI von Einhorn, Yaron, Einhorn, Moshe, Assa, Yaron, Shani, Odem

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eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel von Einhorn, Yaron, Einhorn, Moshe, Yaron, Yuval, Steinberg, Dror, Henig, Noa Zunz, Mory, Adi, Bazak, Lily, Tsur, Erez, Weiss, Karin, Paperna, Tamar, Grinshpun-Cohen, Julia, Singer, Amihood, Basel-Salmon, Lina, Feldman, Hagit Baris

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Variant‐level matching for diagnosis and discovery: Challenges and opportunities von Rodrigues, Eliete da S., Griffith, Sean, Martin, Renan, Antonescu, Corina, Posey, Jennifer E., Coban‐Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Bamshad, Michael J., Hamosh, Ada, Sheffer, Assaf, Chong, Jessica X., Einhorn, Yaron, Cupak, Miro, Sobreira, Nara

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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data von Jackson, Suellen, Freeman, Rebecca, Noronha, Adriana, Jamil, Hafsah, Chavez, Eric, Carmichael, Jason, Ruiz, Kaylee M., Miller, Christine, Benke, Sarah, Perrot, Rosalie, Hockley, Maryam, Murphy, Kady, Casillan, Aimiel, Radanovich, Lily, Deforest, Roger, Nunes, Mark E., Galarreta‐Aima, Carolina, Sidlow, Richard, Einhorn, Yaron, Woods, Jeremy

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Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy‐Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson‐Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

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Loss of Protocadherin‐12 L eads to D iencephalic‐ M esencephalic J unction D ysplasia S yndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy‐Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson‐Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe von Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini

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P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions von DiStefano, Marina, Amberger, Joanna, Austin-Tse, Christina, Balzotti, Marie, Amin, Mutaz, Berg, Jonathan, Bocchini, Carol, Bruford, Elspeth, Alkuraya, Fowzan, Coffey, Alison, Collins, Heather, Cunningham, Fiona, Firth, Helen, Fitzpatrick, David, Einhorn, Yaron, Goldstein, Jennifer, Hamosh, Ada, Leigh, Sarah, Leong, Ivone, Martin, Christa, McDonagh, Ellen, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Ware, James, Williams, Eleanor, Wright, Caroline, Yates, Michael, Weller, Phillip, Rehm, Heidi

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Differential analysis of mutations in the Jewish population and their implications for diseases von EINHORN, YARON, WEISSGLAS-VOLKOV, DAPHNA, CARMI, SHAI, OSTRER, HARRY, FRIEDMAN, EITAN, SHOMRON, NOAM

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Genetic newborn screening and digital technologies : A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe von Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A, Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschuentzsch, Jana, Zuccolo, Michela, Muellenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Huebner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats G, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farne, Marianna, Fortunato, Fernanda, Ferlini, Alessandra

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Long-Term Follow-Up of Cisplatin Combination Chemotherapy in Patients With Disseminated Nonseminomatous Germ Cell Tumors: Is a Postchemotherapy Retroperitoneal Lymph Node Dissectio... von EHRLICH, Yaron, BRAMES, Mary J, BECK, Stephen D. W, FOSTER, Richard S, EINHORN, Lauwrence H

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Serum tumor markers in testicular cancer von Ehrlich, Yaron, M.D, Beck, Stephen D.W., M.D, Foster, Richard S., M.D, Bihrle, Richard, M.D, Einhorn, Lawrence H., M.D

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Primitive neuroectodermal tumors in patients with testicular germ cell tumors usually resemble pediatric-type central nervous system embryonal neoplasms and lack chromosome 22 rear... von Ulbright, Thomas M, Hattab, Eyas M, Zhang, Shaobo, Ehrlich, Yaron, Foster, Richard S, Einhorn, Lawrence H, Cheng, Liang

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On Godbersen’s conjecture von Artstein-Avidan, Shiri, Einhorn, Keshet, Florentin, Dan I., Ostrover, Yaron

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