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Micheil Innes

Observed name: Micheil Inness
OpenAlex ID: A5081280682
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
2023 · Shyam K. Akula, Allen Y. Chen, et al. · JAMA Neurology · 36
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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
2022 · Deepa S. Rajan, Sukhleen Kour, et al. · Frontiers in Cell and Developmental Biology · 23
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Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
2021 · Matthew Osmond, Taila Hartley, et al. · Genetics in Medicine · 20
Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism
2021 · Maya Chopra, Meriel McEntagart, et al. · Molecular Genetics and Metabolism · 5
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
2025 · Ange-Line Bruel, Anneke T. Vulto-vanSilfhout, et al. · European Journal of Human Genetics · 4
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Optimizing genotype quality metrics for individual exomes and cohort analysis
2012 · Paul MK Gordon, Leo Dimnik, et al. · BMC Proceedings · 2
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
2021 · Sarah Sheppard, Ian Campbell, et al. · Molecular Genetics and Metabolism · 1
A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain Enoyl CoA hydratase (ECHS1) deficiency
2026 · Christine Kong, Cesar Alves, et al. · Molecular Genetics and Metabolism
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort
2026 · Salma Shickh, Katharine Fooks, et al. · Genetics in Medicine
Maintained Bone Density in Young Hypoestrogenized Women with a High BMI: Case Series
2021 · Anabel Cardenas Rivas, Lauren A. Burt, et al. · Calcified Tissue International
Works count: 11
Citation count: 91
H-index: 4
I10-index: 3
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