A. Micheil Innes
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Congenital heart defects research
- Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
2017/02/07 by T.B. Balci, Tuğçe B. Balcı, T. Hartley +47 · 2 citations
Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
2019/08/29 by Sandra Donkervoort, S. Donkervoort, Rasha Sabouny +90 · 18 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Mitochondrial Function and Pathology #Genetic Neurodegenerative Diseases #ATP Synthase and ATPases Research
- Neuropathologic Features of Pontocerebellar Hypoplasia Type 6
2014/10/07 by Jeffrey T. Joseph, A. Micheil Innes, Amanda C. Smith +11 · 12 citations
Medicine · #Fetal and Pediatric Neurological Disorders #Advanced Neuroimaging Techniques and Applications #Neonatal and fetal brain pathology
- ANKRD11 variants: KBG syndrome and beyond
2021/05/06 by Ilaria Parenti, Mark B. Mallozzi, Mark Mallozzi +41 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Hedgehog Signaling Pathway Studies