Isabel Cordeiro

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 325 citations

Chromatin, Genome Instability, Chromatin Structure +7

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm†

Paulo Navarro‐Costa, Paulo Nogueira, M. da G. da C. Carvalho et al. · Human Reproduction · 2010 · 154 citations · Full text

Kabuki make-up (Niikawa-Kuroki) syndrome

N. Philip, Peter Meinecke, Allou Konan David et al. · Clinical Dysmorphology · 1992 · 106 citations

Developmental Anomaly, Kabuki Make-up, Disease Mechanism +10

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 102 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +15

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text