Associated Papers
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Levy M et al.
Prenatal Diagnosis, 2025
The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.
Chandler N et al.
Prenatal Diagnosis, 2025
KBG Syndrome in 16 Indian Individuals.
Bajaj S et al.
American Journal of Medical Genetics. Part A, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M et al.
Human Mutation, 2025
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 2024
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
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM 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
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 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
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 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
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
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.
Li Q et al.
Translational Pediatrics, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
KBG syndrome in two patients from Egypt.
Sayed ISM et al.
American Journal of Medical Genetics. Part A, 2020
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
Bianchi PM et al.
International Journal of Pediatric Otorhinolaryngology, 2017