Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Disease Progression  [Clear All Filters]
2015
Boyden, L. M. et al. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-1547 (2015).
2016
Strauss, R. W. et al. Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography. Br J Ophthalmol 100, 956-962 (2016).
2018
Daga, A. et al. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).
2019
Friedman, J. et al. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 10, 707 (2019).
2020
Cif, L. et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261 (2020).
Yin, J. et al. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).