Luis Escobar

Chromosome Abnormalities and Genetic Counseling

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

Benefits and limitations of genome-wide association studies

TNF-α signalling and inflammation: interactions between old acquaintances

Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome

The scent of disease: volatile organic compounds of the human body related to disease and disorder

Role of C-Reactive Protein at Sites of Inflammation and Infection

Reaching a Genetic and Molecular Understanding of Skeletal Development

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease

A role of PIEZO1 in iron metabolism in mice and humans

Estimates of penetrance for recurrent pathogenic copy-number variations

Duplication hotspots, rare genomic disorders, and common disease

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

Health Supervision for Children With Down Syndrome

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

Rethinking the genetic architecture of schizophrenia

The Fibroblast Growth Factor signaling pathway

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Quantitation of craniofacial anomalies in utero: Fetal Alcohol and Crouzon Syndromes and Thanatophoric Dysplasia

PRINCIPLES OF MOLECULAR MEDICINE, 2ND EDITION

Diagnostic utility of microarray testing in pregnancy loss