Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker, +44

American Journal of Medical Genetics Part A

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, +57

Human Mutation

Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation +23

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic, +21

Human Genetics

ChromatinGenome InstabilityMendelian DisorderChromatin RemodelingGenetic Disorder +10

Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, +16

Clinical Genetics

Identifies MutationsRare DiseasesCdls GenesMendelian DisorderGenetic Disorder +12

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech, +53

Genetics in Medicine

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Ana Latorre, Ángela Ascaso, Laura Trujillano, +13

International Journal of Molecular Sciences

Identify CorneliaBiometricsGenetic EpidemiologyDiagnosisPathology +21

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Nuria C. Bramswig, Hermann‐Josef Lüdecke, Yasemin Alanay, +20

Human Genetics

UrologyMendelian DisorderGenetic DisorderMedicineDiagnosis +6

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Ilaria Parenti, Farah Diab, Sara Ruiz Gil, +18

Cell Reports

Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, +20

Epilepsia

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Elsa Leitão, Christopher Schröder, Ilaria Parenti, +34

Nature Communications