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American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
Journal of Physics D: Applied Physics|February 26, 2019
The 2018 correlative microscopy techniques roadmapToshio Ando, Satya Prathyusha Bhamidimarri, Niklas Brending, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative diseaseElisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Science Advances|January 14, 2026
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
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