Magda Montfort
Centre for Genomic Regulation(ES)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Oral microbiology and periodontitis research, Cellular transport and secretion, Salivary Gland Disorders and Functions, Dental Research and COVID-19
Most-Cited Works
- → Exploiting single-molecule transcript sequencing for eukaryotic gene prediction(2015)178 cited
- → Citizen science charts two major “stomatotypes” in the oral microbiome of adolescents and reveals links with habits and drinking water composition(2018)154 cited
- → DNA Hypomethylation at ALOX12 Is Associated with Persistent Wheezing in Childhood(2012)104 cited
- → Functional analysis of 13GBAmutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms(2004)90 cited
- → Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease(1997)40 cited
- → Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease(2009)40 cited
- → Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients(1998)39 cited
- → A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes(2017)39 cited
- → Blues and depression during early puerperium: home versus hospital deliveries(1995)25 cited
- → Gaucher Disease: The N370S Mutation in Ashkenazi Jewish and Spanish Patients has a Common Origin and Arose Several Thousand Years Ago(1999)24 cited