David Valle‐García

Online Mendelian Inheritance In Man (OMIM)

Ada Hamosh, Alan L. Scott, Joanna Amberger et al. · Human Mutation · 2000 · 1.2K citations · Full text

Omim Entry, Genetics, Genetic Epidemiology +19

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nancy Braverman, Gary Steel, Cassandra Obie et al. · Nature Genetics · 1997 · 445 citations

Rhizomelic Chondrodysplasia Punctata, Signal Transduction, Bone Morphogenic Protein +7

PCIF1 Catalyzes m6Am mRNA Methylation to Regulate Gene Expression

Erdem Sendinc, David Valle‐García, Abhinav Dhall et al. · Molecular Cell · 2019 · 278 citations · Full text

Transcriptional Regulation, Medicine, Natural Sciences +7

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

Cheng Ran Lisa Huang, A.M. Schneider, Yunqi Lu et al. · Cell · 2010 · 255 citations · Full text

Dna, Natural Sciences, Genetics +9

Microdeletions of 3q29 Confer High Risk for Schizophrenia

Jennifer G. Mullé, Anne Dodd, John A. McGrath et al. · The American Journal of Human Genetics · 2010 · 228 citations · Full text

Risk Prediction, Psychiatry, Psychotic Disorder +8