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WT093205MA

Funded outputs count: 12
Funder award ID: WT093205MA
OpenAlex ID: G193949873
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
2024 · Camila Armirola-Ricaurte, Noortje Zonnekein, et al. · Genetics in Medicine · 6
Expanding the phenotype of PPP1R21 ‐related neurodevelopmental disorder
2024 · Mohammed Almannai, Dana Marafi, et al. · Clinical Genetics · 8
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
2024 · Stephanie Efthymiou, Marcello Scala, et al. · Brain · 14
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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
2023 · Reza Maroofian, Mina Zamani, et al. · Genetics in Medicine · 10
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Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn
2023 · Stephanie Efthymiou, Luiz E. Novis, et al. · Annals of Clinical and Translational Neurology · 3
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
2023 · Afshin Saffari, Tracy Lau, et al. · Brain · 16
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Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
2022 · Rauan Kaiyrzhanov, Sami E.M. Mohammed, et al. · The American Journal of Human Genetics · 23
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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
2020 · Julie C. Van De Weghe, Jessica L. Giordano, et al. · Human Genetics and Genomics Advances · 19
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Biallelic variants in ADARB1 , encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
2020 · Reza Maroofian, Jiří Sedmík, et al. · Journal of Medical Genetics · 30
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · Lucia V. Schottlaender, Rosella Abeti, et al. · The American Journal of Human Genetics · 88
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Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
2020 · Farah Bibi, Stephanie Efthymiou, et al. · Journal of the Neurological Sciences · 20
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
2019 · Elena Perenthaler, Anita Nikoncuk, et al. · Acta Neuropathologica · 67
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