María Luisa Martínez‐Frías

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Yanick J. Crow, Andrea Leitch, Bruce E. Hayward et al. · Nature Genetics · 2006 · 666 citations

Ribonuclease H2, Viral Evolution, Genetic Disorder +10

The spectrum of congenital anomalies of the VATER association: An international study

Lorenzo D. Botto, Muin J. Khoury, Pierpaolo Mastroiacovo et al. · American Journal of Medical Genetics · 1997 · 258 citations · Full text

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Birth prevalence study of the apert syndrome

Maimon M. Cohen, Sven Kreiborg, Edward J. Lammer et al. · American Journal of Medical Genetics · 1992 · 213 citations

Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies

María Luisa Martínez‐Frías · American Journal of Medical Genetics · 1994 · 197 citations