Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

KBG syndrome

(2017) Dayna Morel Swols et al.   Orphanet Journal of Rare Diseases

Clinical and genetic aspects of KBG syndrome

(2016) Karen Low et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation ofANKRD11

(2016) Alice Goldenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

(2015) I. Parenti et al.   CLINICAL GENETICS

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Orione, a web-based framework for NGS analysis in microbiology

(2014) Gianmauro Cuccuru et al.   BIOINFORMATICS

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

(2014) Morad Ansari et al.   JOURNAL OF MEDICAL GENETICS

Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome

(2013) John C. Mulley et al.   EPILEPSIA

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother

(2010) J. P. Fryns et al.   CLINICAL GENETICS

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics