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WT093205MA

Funded outputs count: 17
Funder award ID: WT093205MA
OpenAlex ID: G436110613
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities
2026 · Carolyn Le, Tugba Kalayci, et al. · Journal of Medical Genetics · 2
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Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
2026 · Valentina Galassi Deforie, Reza Maroofian, et al. · Genetics in Medicine · 3
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
2025 · Stephanie Efthymiou, Cailyn P. Leo, et al. · The American Journal of Human Genetics · 12
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs
2025 · Kejia Zhang, Aidan C. Manning, et al. · Cell Reports · 25
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
2024 · Gabriel N Aughey, Elisa Cali, et al. · Brain · 1
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024 · Elisa Cali, Tania Quirin, et al. · Genetics in Medicine · 5
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CSF1R -Related Disorder: Prevalence of CSF1R Variants and Their Clinical Significance in the UK Population
2024 · Charles Wade, Kyle Runeckles, et al. · Neurology Genetics · 29
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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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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
2023 · Reza Maroofian, Rauan Kaiyrzhanov, et al. · Brain · 23
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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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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
2022 · Maria B. Christensen, Amanda M. Levy, et al. · Clinical Genetics · 16
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RFC1 -related ataxia is a mimic of early multiple system atrophy
2021 · Roisin Sullivan, Wai Yan Yau, et al. · Journal of Neurology Neurosurgery & Psychiatry · 47
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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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