Carlos Martín Restrepo

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa et al. · Nature Genetics · 2015 · 173 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +12

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Christine P. Diggle, David Parry, Clare V. Logan et al. · Human Mutation · 2012 · 97 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1

Africa Fernández-L, Francisco Sanz‐Rodríguez, Roberto Zarrabeitia et al. · Human Mutation · 2006 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity

Hernan Yupanqui-Lozno, Raúl A. Bastarrachea, Maria E. Yupanqui-Velazco et al. · Genes · 2019 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <i><scp>HERC1</scp></i> mutations in a syndromic form of overgrowth and intellectual disability

Oscar Ortega‐Recalde, Orietta Beltrán, Jubby Marcela Gálvez et al. · Clinical Genetics · 2015 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17