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Experimental Dermatology|December 16, 2021
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitorEran Cohen-Barak, Hagit Toledano-Alhadef, Nada Danial-Farran, et al.
American Journal of Human Genetics|January 10, 2012
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, et al.
Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
Movement Disorders Clinical Practice|June 5, 2025
High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics ClinicDvir Penn, Yam Amir, Gil Ben David, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2020
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care centerRachel Michaelson-Cohen, Liat Salzer-Sheelo, Rivka Sukenik-Halevy, et al.
Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, et al.
Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
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