Daniel R. Carvalho

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

Lila Allou, Sara Balzano, Andreas Magg et al. · Nature · 2021 · 116 citations · Full text

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, B. Redeker, Emilia Stellacci et al. · Nature Genetics · 2014 · 96 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +2