Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

Joint hypermobility as a manifestation of neonatal Sotos syndrome.

Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long-Term Follow-Up.

Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome Encompassing NSD1 and SLC34A1 Genes.

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.

Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.

Paraspeckle protein NONO regulates active chromatin by allosterically stimulating NSD1.

Exploring the uncharted role of cell senescence in rare diseases.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Sotos Syndrome With NSD1 Mutations in a Chinese Cohort: Identification of Two Novel Mutations and Literature Review.

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study.

A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome.

Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

Trio Exome Sequencing in VACTERL Association.

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

Orofacial Dyskinesia in a Patient With Sotos Syndrome Treated With Methylphenidate.

Case report: ocular manifestations of NFIX-associated Malan syndrome.

The sotos syndrome gene Nsd1 safeguards developmental gene enhancers poised for transcription by maintaining the precise deposition of histone methylation.

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature.

Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.

Intravenous Sedation in a Patient With Sotos Syndrome and Intellectual Disability: A Case Report.

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Magnetic resonance imaging evaluation and nuclear receptor binding SET domain protein 1 mutation in the Sotos syndrome with attention-deficit/hyperactivity disorder.

Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes.

Nasolacrimal Duct Obstruction in a Patient With Sotos Syndrome.

Symptomatic Congenital Kyphoscoliosis Due to Concomitant Wedged Vertebra and Sotos Syndrome: A Case Report.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease-Specific Growth Chart.

Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.

Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts.

Impact and characterization of serial structural variations across humans and great apes.

Downregulation of nuclear receptor-binding SET domain protein 1 induces proinflammatory cytokine expression via mitogen-activated protein kinase pathways in U87MG cells.

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care.

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Acute megakaryoblastic leukemia associated with Sotos syndrome: A case report and review of evolving genetic associations.

Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder: A case report.

A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

Natural history in Malan syndrome: survey of 28 adults and literature review.

Overgrowth Disorders: A Case of Sotos Syndrome and Overview of Related Disorders.

Gastro-oesophageal reflux: rare presentation of Sotos syndrome in a neonate.

Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy.

Human Genetics of Ventricular Septal Defect.

Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

3D facial approximation and endocast analysis of the Mummy of Minirdis (Ancient Egypt, ca. 2,300 Before Present).

Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice.

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.

Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion.

A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.

Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

Chromosomal abnormalities associated with fetal megacystis.

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.

Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study.

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 treated with traditional Chinese medicine and rehabilitation: Case report.

Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities.

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.

Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).

Orthodontic Management of Severe Hypodontia and Impacted Maxillary Second Molars in a Patient with Sotos Syndrome.

Intracranial Hypertension in a Child Diagnosed With Sotos Syndrome.

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease.

Epigenetic Causes of Overgrowth Syndromes.

Chromatin regulation of transcriptional enhancers and cell fate by the Sotos syndrome gene NSD1.

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome.

Methicillin-Resistant Staphylococcus aureus Pneumatoceles in a Neonate With Sotos Syndrome : A Case Report.

Simultaneous presence of Brugada and overgrowth syndromes.

NSD1 deposits histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.

Syndromic forms of congenital hyperinsulinism.

Case report: Successful anterior temporal lobectomy in drug-resistant temporal lobe epilepsy associated with Sotos syndrome.

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother.

Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.

Occurrence of sotos syndrome and coffin-siris syndrome in a family.

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.

Nonsurgical orthodontic treatment for a patient with Sotos syndrome.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Phenotype and genotype in a Taiwanese girl with Sotos Syndrome.

Atypical Sotos syndrome caused by a novel splice site variant.

Two distinct syndromic children with T-acute lymphoblastic leukemia: Noonan syndrome and Sotos syndrome.

Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects.

Lysine Methyltransferase NSD1 and Cancers: Any Role in Melanoma?

Sotos syndrome: A study of antenatal presentation.

Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan.

DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features.

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Anesthetic Considerations in an Infant With Malan Syndrome: A Case Report.

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Cholesteatoma in Children with Sotos Syndrome.

Successful Anesthetic Management of an Adult with Sotos Syndrome.

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.

NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.

The aetiology of extreme tall stature in a screened Finnish paediatric population.

SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?

Approach to the Patient With Pseudoacromegaly.

Acute Coronary Syndrome Requiring Coronary Artery Bypass Grafting in a Patient With Sotos Syndrome.

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

Parental Stress and Disability in Offspring: A Snapshot during the COVID-19 Pandemic.

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.

Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.

Clinical experience with non-invasive prenatal screening for single-gene disorders.

Sotos syndrome and the added value of genetic workup in epilepsy surgery.

Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism.

[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].

COVID-19 pneumonia in a child with Sotos syndrome.

Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy.

Seizures in Sotos syndrome: Phenotyping in 49 patients.

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment.

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1.

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

Characterization of sleep habits of children with Sotos syndrome.

Drosophila NSD deletion induces developmental anomalies similar to those seen in Sotos syndrome 1 patients.

Drosophila models to study causative genes for human rare intractable neurological diseases.

COVID-19 and social responsiveness: A comparison between children with Sotos syndrome and autism.

The otolaryngologic manifestations of Sotos syndrome 1: A systematic review.

Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome.

Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability.

The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.

A boy with Silver-Russell syndrome and Sotos syndrome.

Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome.

A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY.

A Unique Case of Gorlin-Goltz Syndrome with Associated Sotos Syndrome.

Tall stature in children and adolescents.

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

Sotos syndrome in two children from India.

Sotos Syndrome Presenting without Gigantism.

Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).

Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.

First report of tethered cord syndrome in a patient with Sotos syndrome.

Aortic dilation in Sotos syndrome: An underestimated feature?

Spinal Deformity in Sotos Syndrome: First Results of Growth-friendly Spine Surgery.

[Genetic analysis of a child with Sotos syndrome].

DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.

Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.

50 Years Ago in TheJournal ofPediatrics: Cerebral Gigantism: Concentrations of Amino Acids in Plasma and Muscle.

Epigenetic signatures in overgrowth syndromes: Translational opportunities.

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.

PRC2 functions in development and congenital disorders.

Staging of Schizophrenia With the Use of PANSS: An International Multi-Center Study.

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Berlin Heart EXCOR® pediatric ventricular assist device in a patient with Sotos syndrome: a case report.

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.

Precocious Puberty in an Infant with Sotos Syndrome.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Unusual association of Mayer-Rokitansky-Küster-Hauser and Sotos syndromes: a case report.

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.

Overgrowth syndromes - clinical and molecular aspects and tumour risk.

[The rehabilitation of a child with a sotos syndrome. case report].

Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

An interaction-based model for neuropsychiatric features of copy-number variants.

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.

Implant Planning in a Case With Sotos Syndrome.

Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs.

Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2.

Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene.

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Fetal megacystis: a lot more than LUTO.

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].

Further delineation of Malan syndrome.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA).

A Forensic Approach to Sotos Syndrome.

Lethal fat embolism complicating Sotos syndrome.

Overexpression of histone methyltransferase NSD in Drosophila induces apoptotic cell death via the Jun-N-terminal kinase pathway.

Hyperinsulinism in the Neonate.

[Investigation of tall stature in children: Diagnostic work-up, review of the main causes].

Growth pattern of Rahman syndrome.

The cognitive profile of Sotos syndrome.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.