Feliciano J. Ramos

Epigenetic Modification of the <i>FMR1</i> Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Sébastien Jacquemont, Aurore Curie, Vincent des Portes et al. · Science Translational Medicine · 2011 · 610 citations

Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 518 citations · Full text

Developmental Anomaly, Smc1a Cause, Mendelian Disorder +11

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Bettina Lorenz‐Depiereux, Murat Bastepe, Anna Benet‐Pagès et al. · Nature Genetics · 2006 · 514 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetics +9

Evidence for a cluster of genes on chromosome 17q11–q21 controlling susceptibility to tuberculosis and leprosy in Brazilians

Scott Jamieson, E. Nancy Miller, Gillian F. Black et al. · Genes and Immunity · 2004 · 146 citations

Disease Susceptibility, Chromosome 17Q11–q21, Pulmonary Tuberculosis +13

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27