• A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia
• A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family
• A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection
• Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene
• Autosomal dominant mental retardation type 5 caused by <em>SYNGAP1</em> gene mutations: a report of 8 cases and literature review
• Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact
• Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
• Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis
• Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature
• Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the <em>CHRND</em> gene
• Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
• Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
• Case Report: Novel compound heterozygous variants in <em>CHRNA1</em> gene leading to lethal multiple pterygium syndrome: A case report
• Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
• Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease
• Clinical and Genetic Features of <em>NR2E3</em>-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review
• Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
• Clinical efficacy of a new surgical technique of oral mucosal epithelial transplantation for severe ocular surface disorders
• Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
• Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report
• Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer's Disease
• Effect of apolipoprotein genotype and educational attainment on cognitive function in autosomal dominant Alzheimer's disease
• Escobar Syndrome with Monodactyly: A Rare Case Report
• FMRI Complexity Correlates with Tau-PET and Cognitive Decline in Late-Onset and Autosomal Dominant Alzheimer's Disease
• Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G&gt;A (p.D249N) autosomal dominant mutation in TUBB4A
• Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
• Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia
• Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)
• Lethal multiple pterygium syndrome in a newborn, a case report
• Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies
• Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita
• Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture
• Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
• NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
• Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants
• Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report
• Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• Plasma inflammation for predicting phenotypic conversion and clinical progression of autosomal dominant frontotemporal lobar degeneration
• Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
• Proximal Dominant Hereditary Motor and Sensory Neuropathy with <em>TFG</em> Mutation: First Case Report from India
• Pterygium Syndrome
• Pterygium Syndrome
• Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1₂β1δε
• Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α1₂β1δε
• Rescue of autosomal dominant hearing loss by in vivo delivery of mini dCas13X-derived RNA base editor
• Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man
• Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
• Sex differences in blood biomarkers and cognitive performance in individuals with autosomal dominant Alzheimer's disease
• Tau accumulation in autosomal dominant Alzheimer's disease: a longitudinal [¹⁸F]flortaucipir study
• The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children
• Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer's disease with multi-modal PET and plasma GFAP