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Filters: Keyword is Retrospective Studies [Clear All Filters]
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med 22, 1633-1641 (2020).
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med 22, 2020-2028 (2020).
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics 13, 68 (2020).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med 6, 230-248 (2018).
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography. Br J Ophthalmol 100, 956-962 (2016).
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).