Neus Roca‐Ayats

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Roser Urreizti, Anna M. Cueto‐González, Héctor Franco‐Valls et al. · Scientific Reports · 2017 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types

Neus Roca‐Ayats, Pei Ying Ng, Natalia García‐Giralt et al. · Journal of Bone and Mineral Research · 2018 · 29 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density

Núria Martínez‐Gil, Neus Roca‐Ayats, Anna Monistrol-Mula et al. · Scientific Reports · 2018 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes

Roser Urreizti, Neus Roca‐Ayats, Judith Trepat et al. · American Journal of Medical Genetics Part A · 2015 · 15 citations

Life Sciences, Genetics, Molecular Genetics +13

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3

Neus Roca‐Ayats, Núria Martínez‐Gil, Mónica Cozar et al. · Bone · 2019 · 15 citations · Full text

Medicine, Genetics, Molecular Genetics +10