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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 27, 2021
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosisUta Rössler, Anna Floriane Hennig, Nina Stelzer, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Brain : a Journal of Neurology|October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsSaikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
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