Associated Papers
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.
Araji S et al.
Clinical Genetics, 2026
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.
Mancuso G et al.
International Journal of Molecular Sciences, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Ek M et al.
Genome Medicine, 2026
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
Aukema SM et al.
American Journal of Medical Genetics. Part A, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Rudy NL et al.
American Journal of Medical Genetics. Part A, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Avci Durmusalioglu E et al.
American Journal of Medical Genetics. Part A, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder.
Jing XY et al.
Prenatal Diagnosis, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.
Serra G et al.
Italian Journal of Pediatrics, 2025
KBG Syndrome in 16 Indian Individuals.
Bajaj S et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S et al.
Hgg Advances, 2024
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
Adamo-Croux M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024
Ocular manifestations in a cohort of 43 patients with KBG syndrome.
Carter DC et al.
American Journal of Medical Genetics. Part A, 2024
Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.
Rodrigues Alves Barbosa V et al.
Life Science Alliance, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
Amllal N et al.
Annals of Laboratory Medicine, 2024
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N et al.
Epilepsia Open, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F et al.
Journal of Medical Genetics, 2023
Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.
Zhang H et al.
Medicine, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Rhamati L et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E et al.
Journal of Medical Genetics, 2023
Epilepsy in KBG syndrome.
Auconi M et al.
Developmental Medicine and Child Neurology, 2023
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Awamleh Z et al.
Human Molecular Genetics, 2023
Natural history of KBG syndrome in a large European cohort.
Loberti L et al.
Human Molecular Genetics, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L et al.
European Journal of Human Genetics : Ejhg, 2022
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I et al.
International Journal of Molecular Sciences, 2022
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
Gao F et al.
Journal of Personalized Medicine, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
Two case reports of KBG syndrome with Dandy-Walker variant.
Tago T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Kutkowska-Kaźmierczak A et al.
Genes, 2021