• 3D facial approximation and endocast analysis of the Mummy of Minirdis (Ancient Egypt, ca. 2,300 Before Present)
• A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease
• A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome
• A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review
• A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
• Acute megakaryoblastic leukemia associated with Sotos syndrome: A case report and review of evolving genetic associations
• An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
• Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
• Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome
• Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1
• Chromosomal abnormalities associated with fetal megacystis
• Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder: A case report
• Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene
• Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants
• Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
• Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
• Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy
• Epigenetic causes of overgrowth syndromes
• Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment
• Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate
• Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5
• GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
• High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
• Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities
• Human Genetics of Ventricular Septal Defect
• Hyperinsulinemia in Sotos Syndrome with a <em>de novo NSD1</em> Deletion
• Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion
• Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome
• Intracranial Hypertension in a Child Diagnosed With Sotos Syndrome
• Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
• Methicillin-Resistant Staphylococcus aureus Pneumatoceles in a Neonate With Sotos Syndrome : A Case Report
• Methicillin-Resistant Staphylococcus aureus Pneumatoceles in a Neonate With Sotos Syndrome: A Case Report
• Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome
• Natural history in Malan syndrome: survey of 28 adults and literature review
• Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice
• NFIX-Related Malan Syndrome
• Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing
• NSD1 deposits histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons
• Orthodontic Management of Severe Hypodontia and Impacted Maxillary Second Molars in a Patient with Sotos Syndrome
• Overgrowth Disorders: A Case of Sotos Syndrome and Overview of Related Disorders
• Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome
• Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome
• Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study
• Simultaneous presence of Brugada and overgrowth syndromes
• Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome
• Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes
• Sotos syndrome treated with traditional Chinese medicine and rehabilitation: Case report
• Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature
• Sotos Syndrome with NSDI Gene Mutations and Li-Fraumeni Syndrome with TP53 Gene Mutations in a Patient with Multiple Gastric Signet-Ring Cell Carcinomas
• Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
• Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome
• Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
• Syndromic forms of congenital hyperinsulinism
• The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation
• Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum