Associated Papers
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
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Gippert S et al.
Endocrine, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
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
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
KBG syndrome in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Growth hormone therapy for children with KBG syndrome: A case report and review of literature.
Ge XY et al.
World Journal of Clinical Cases, 2020
Novel Mutations and Unreported Clinical Features in KBG Syndrome.
Scarano E et al.
Molecular Syndromology, 2019