• <em>SPECC1L</em> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
• 7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
• A <em>de novo</em> Variant of <em>ASXL1</em> Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
• A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis
• A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
• A multi-omic brain gut microbiome signature differs between IBS subjects with different bowel habits
• A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
• A Rare Case of Telecanthus-Hypospadias Syndrome in a Pediatric Patient
• A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome
• A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
• Adverse events in trials of licensed drugs for irritable bowel syndrome with constipation or diarrhea: Systematic review and meta-analysis
• Anaesthesia and orphan diseases: Bohring-Opitz syndrome
• Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients
• Auditory phenotype of Smith-Lemli-Opitz syndrome
• Autism: Screening of inborn errors of metabolism and unexpected results
• Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients
• Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report
• Bohring-Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing
• Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
• Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020)
• Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders
• Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations
• Cholesterol regulates insulin-induced mTORC1 signaling
• Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study
• Clinical and genetic analysis of two rare male patients with Rett syndrome
• Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome
• Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk
• Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis
• Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population
• De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature
• Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
• Desmosterol and 7-dehydrocholesterol concentrations in post mortem brains of depressed people: The role of trazodone
• DHCR7 links cholesterol synthesis with neuronal development and axonal integrity
• Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations
• DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
• Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism
• Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters
• Effective sample preparation procedure for the analysis of free neutral steroids, free steroid acids and sterol sulfates in different tissues by GC-MS
• Evolution in the clinic: Maladaptive units and "minor anomalies"
• Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3)
• Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases
• Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases
• Eye and ocular adnexa manifestations of <em>MED12</em>-related disorders
• Generation and validation of a conditional knockout mouse model for desmosterolosis
• Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome
• How to Manage Low Estriol Levels in Pregnancies, One Center Experience
• Human Genetics of Atrial Septal Defect
• Human Genetics of Hypoplastic Left Heart Syndrome
• Human Genetics of Ventricular Septal Defect
• Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
• Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
• Imaging of the Ciliary Cholesterol Underlying the Sonic Hedgehog Signal Transduction
• Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
• Intracranial injection of NK cells engineered with a HER2-targeted chimeric antigen receptor in patients with recurrent glioblastoma
• Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing
• John M Opitz: Physician, morphologist, scholar, editor (1935-2023)
• Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays
• Late endosomal/lysosomal accumulation of a neurotransmitter receptor in a cellular model of Smith-Lemli-Opitz syndrome
• MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome
• Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome
• MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
• Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations
• Medical treatment of pulmonary hypertension in adults with congenital heart disease: updated and extended results from the International COMPERA-CHD Registry
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients
• Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice
• Multi-omics profiles of the intestinal microbiome in irritable bowel syndrome and its bowel habit subtypes
• Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation
• Novel Combination of Surface Markers for the Reliable and Comprehensive Identification of Human Thymic Epithelial Cells by Flow Cytometry: Quantitation and Transcriptional Characterization of Thymic Stroma in a Pediatric Cohort
• Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome
• Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant
• Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
• Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome
• Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics
• Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis
• Rapid progression of myelofibrosis in polycythemia vera patient carrying SRSF2 c.284C&gt;A p.(Pro95His) and unique ASXL1 splice site c.1720-2A&gt;G variant
• Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation
• Self-Induced Bilateral Retinal Detachments and Traumatic Cataracts in a Patient With Bohring-Opitz Syndrome
• Smith-Lemli-Opitz Syndrome
• Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient
• Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis
• Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience
• Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up
• Statins for Smith-Lemli-Opitz syndrome
• Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model
• Sterol biosynthesis regulates TLR signaling and the innate immune response in Smith-Lemli-Opitz syndrome model
• Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk
• Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis
• Surgical management of lung cancer during the COVID-19 pandemic - a narrative review and single-centre report
• Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report
• Surgical Treatment of Type III Laryngotracheoesophageal Clefts: Techniques and Outcomes
• Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice
• Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome
• The CBIT + TMS trial: study protocol for a two-phase randomized controlled trial testing neuromodulation to augment behavior therapy for youth with chronic tics
• Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome
• Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult
• Two cases of hepatoblastoma in Bohring-Opitz syndrome: An emerging association
• Type 2 laryngeal cleft associated with OpitzG/BBB syndrome
• Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
• Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis