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Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
American Journal of Human Genetics|March 27, 2026
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorderJames Lambton, Shotaro Asano, Yuxiang Huang, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, 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.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, 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.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
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