Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

MiR-874-3p suppresses TNF-α-induced inflammation in adipocytes by targeting nucleolin.

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults - a systematic review.

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

Ambulatory General Anesthesia for Dental Treatment in a Patient With Williams Syndrome and Supravalvular Aortic Restenosis: A Case Report.

Simpson-Golabi-Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of GPC3.

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Kmt2c/Mll3 Haploinsufficiency Causes Autism-like Behavioral Deficits in Mice.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Gastrointestinal malrotation and chronic intestinal pseudo-obstruction in two pediatric patients with Baraitser-Winter cerebrofrontofacial syndrome.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

Childhood Neurocognitive Outcomes in Patients With Fontan Circulation.

Are NONO variants linked to congenital heart disease? Patient reports and review.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.

Recognizing and Treating Catatonia in Kleefstra Syndrome.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Rare features in Feingold syndrome type 1.

Parietal Lobe Epilepsy Associated With 2q13 Duplication: Expanding the Neurogenetic Spectrum.

Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

The Risk of Breakthrough Cardiac Events Associated With Psychiatric Medications in Patients With Diagnosed and Clinically Treated Long QT Syndrome.

Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.

CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families.

Thoracotomy-assisted arterial duct stenting in a 1.6-kg infant with Kleefstra syndrome: a case report.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.

Prenatal Characterization of Houge-Janssens Syndrome Type 2: A Case Report and Systematic Review of Fetal Phenotypes Associated With PPP2R1A Mutations.

Expanding the phenotypic spectrum of Beaulieu-Boycott-Innes syndrome: A case report of a novel THOC6 gene mutation associated with ambiguous genitalia and disorders of sexual development.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Predictors of Neurodevelopmental and Mental Health Diagnoses in Congenital Heart Disease: A Danish Population-Based Cohort Study.

Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Variable expressivity of a transmitted pathogenic KAT6B variant.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

Unraveling Glypican-3: From Structural to Pathophysiological Roles and Mechanisms-An Integrative Perspective.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Prenatal diagnosis and counseling of Emanuel syndrome: Two case reports.

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.

Respiratory and airway disorders in children with Down Syndrome: a review of the clinical challenges and management.

Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Highlighting cardiovascular manifestations of kleefstra syndrome: literature review and clinical insights.

De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report.

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

[Duplication of the X-chromosomal Xq28 region containing the MECP2 gene in X-linked intellectual disability syndrome Lubs-type].

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges.

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Vitamin D modulates the content of inflammatory microRNAs in extracellular vesicles from human adipocyte cells in inflammatory context.

Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

A Case of a Newborn Presenting With a VACTERL-Like Association.

Case report: Kabuki syndrome and persistent hypoglycemia in neonates.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.

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

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Development and validation of a multiplex chip-based droplet digital PCR method for detecting CNVs in 7q11.2 and 22q11.2 regions.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review.

Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Factors contributing to severe scoliosis after open chest surgery for congenital heart disease: a case-control analysis.

20p chromosome inverted duplication syndrome with phenotypes of congenital heart disease, anorectal malformation and megacolon.

Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review.

Impact of Persistent Pulmonary Hypertension of the Newborn in Neonates with Dextro-transposition of the Great Arteries.

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Approach to the Patient: Diagnosis and Treatment With Growth Hormone of Turner Syndrome and Its Variants.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

[Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review].

Establishment of human pluripotent stem cell-derived cortical neurosphere model to study pathomechanisms and chemical toxicity in Kleefstra syndrome.

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Turner syndrome and neuropsychological abnormalities: a review and case series.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects.

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome.

Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes.

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Research gaps in the neurodevelopmental assessment of children with complex congenital heart defects: a scoping review.

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.

Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab.

A case of pancreatoblastoma in a child with Simpson-Golabi-Behmel syndrome: Highlighting the importance of alpha fetoprotein monitoring.

Simpson-Golabi-Behmel syndrome.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

ZAP70: A Key Gene Identified by Differential Expression Analysis for Early Diagnosis of Fetuses with Emanuel Syndrome.

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.

Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.

From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Association of congenital heart disease and neurodevelopmental disorders: an observational and Mendelian randomization study.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.

Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor.

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Genotype-phenotype correlations in a fetus with Kleefstra syndrome.

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters.

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.

SARS-CoV-2 Infection Alters the Phenotype and Gene Expression of Adipocytes.

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Neurodevelopmental outcomes of preterm and growth-restricted neonate with congenital heart defect: a systematic review and meta-analysis.

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Floating-Harbor syndrome and provision of dental treatment: A case report of the dental considerations.

[Genetic diagnosis and analysis of eight cases with central 22q11.2 deletion syndrome].

Phenotyping Down syndrome: discovery and predictive modelling with electronic medical records.

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

Acetyltransferase in cardiovascular disease and aging.

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.

A novel NONO nonsense variant in a fetus with renal abnormalities.

Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory's Retrospective Experience.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Myricetin attenuates hypoxia-induced inflammation in human adipocytes.

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review.

Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism.

Multiple copy number variation in a patient with Kleefstra syndrome.

Treatment of Intracranial Hemorrhagic Lesions Associated With Jacobsen's Syndrome.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.

Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome.

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction.

Kleefstra syndrome presenting as pulmonary atresia with intact ventricular septum diagnosed prenatally at 16 weeks using four-dimensional spatiotemporal image correlation.

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Café-au-lait Spots and Cleft Palate: Not a Chance Association.