Publications
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Author Title [ Year
] Filters: Author is Eldomery, Mohammad K and Keyword is Phenotype [Clear All Filters]
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
