Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt by Karin Weiss, Alina Kurolap, Tamar Paperna, Adi Mory, Maya Steinberg, Tova Hershkovitz, Nina Ekhilevitch, Hagit N. Baris

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Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy by Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin

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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes by Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman

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Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management by Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss

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Vici syndrome in Israel: Clinical and molecular insights by Odelia Chorin, Odelia Chorin, Odelia Chorin, Yoel Hirsch, Rachel Rock, Rachel Rock, Rachel Rock, Liat Salzer Sheelo, Liat Salzer Sheelo, Yael Goldberg, Yael Goldberg, Hanna Mandel, Hanna Mandel, Tova Hershkovitz, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Uriel Katz, Uriel Katz, Ortal Barel, Ortal Barel, Nasrin Hamed, Nasrin Hamed, Bruria Ben-Zeev, Bruria Ben-Zeev, Shoshana Greenberger, Shoshana Greenberger, Shoshana Greenberger, Nadra Nasser Samra, Nadra Nasser Samra, Michal Stern Zimmer, Michal Stern Zimmer, Michal Stern Zimmer, Annick Raas-Rothschild, Annick Raas-Rothschild, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked

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