• <em>MN1</em> C-Terminal Truncation Syndrome
• A 10-year systematic review of HIV/AIDS mass communication campaigns: Have we made progress?
• A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4
• A Second Family with Myhre Syndrome Caused by the Same Recurrent <em>SMAD4</em> Pathogenic Variation (p.Arg496Cys)
• A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
• Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
• An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes
• Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
• Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome
• Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
• Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
• Failure to thrive in HIV-infected children: incidence, prevalence, and clinical correlates
• First case of Myhre syndrome with schizophrenia
• Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome
• Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
• Gastrointestinal polyposis syndromes
• Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2)
• Help for Africa in the campaign against AIDS
• HIV/AIDS communication campaigns: progress and prospects
• Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification
• Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
• Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome
• Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome
• MN1 C-Terminal Truncation Syndrome
• Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report
• Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
• Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
• Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation
• Myhre syndrome: Age-dependent progressive phenotype
• Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
• Myhre syndrome: the first case in Korea
• Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions
• Natural history of Myhre syndrome
• Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome
• Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in <em>SMAD4</em> cause a Multisystem Fibroproliferative Response
• Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
• Ruvalcaba-Myhre-Smith syndrome
• SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
• SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome
• The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity