Carlos Trujillo

Absence of<i>FKBP10</i>in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

Aileen M. Barnes, Wayne A. Cabral, MaryAnn Weis et al. · Human Mutation · 2012 · 97 citations · Full text

Dysfunction of the MDM2/p53 axis is linked to premature aging

Davor Lessel, Danyi Wu, Carlos Trujillo et al. · Journal of Clinical Investigation · 2017 · 76 citations · Full text

Aging, Anti-aging, Longevity +13

Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel <i><scp>MED</scp>12</i> missense mutation [c.5922G&gt;T (p.Glu1974His)]

Habib Bouazzi, Gaëtan Lesca, Carlos Trujillo et al. · Clinical Case Reports · 2015 · 55 citations · Full text

A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy

Muhammad Imran Naseer, Mohammad Khalid Alwasiyah, Angham Abdulrahman Abdulkareem et al. · Genes & Genomics · 2018 · 18 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder

Francesca Mattioli, Lina Worpenberg, Cai‐Tao Li et al. · Genetics in Medicine · 2023 · 18 citations · Full text