Associated Papers
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Mittal S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.
Zhu M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
Carrer A et al.
Genes, 2025
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.
Dannheim K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Foveal hypoplasia in Myhre syndrome: a novel association.
Van Haecke H et al.
Ophthalmic Genetics, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Sim H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Thick skin and thicker arteries: case report on a rare cause of hypertension.
Mathew G et al.
Pediatric Nephrology (berlin, Germany), 2025
Research Review of Myhre Syndrome.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Gain-of-function variants in SMAD4 compromise respiratory epithelial function.
Lindsay ME et al.
The Journal of Allergy and Clinical Immunology, 2025
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE et al.
American Journal of Medical Genetics. Part A, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA et al.
American Journal of Human Genetics, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E et al.
European Journal of Human Genetics : Ejhg, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.
Jury J et al.
Prenatal Diagnosis, 2024
Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome.
Tayara A et al.
Ear, Nose, & Throat Journal, 2024
Corrigendum to "Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome".
Unknown Author
American Journal of Medical Genetics. Part A, 2024
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities.
Hui PW et al.
Prenatal Diagnosis, 2023
A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa Y et al.
Japanese Journal of Clinical Oncology, 2023
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Natural history of Myhre syndrome.
Yang DD et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
Kandhaya-Pillai R et al.
Geroscience, 2021
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
Jeon MJ et al.
Pediatric Allergy, Immunology, and Pulmonology, 2021
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A case of Myhre syndrome mimicking juvenile scleroderma.
Jensen B et al.
Pediatric Rheumatology Online Journal, 2020
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2020
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
Gürsoy S et al.
Molecular Syndromology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Canonical TGF-β Signaling Negatively Regulates Neuronal Morphogenesis through TGIF/Smad Complex-Mediated CRMP2 Suppression.
Nakashima H et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR et al.
Nature Neuroscience, 2017
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2016
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
Starr LJ et al.
American Journal of Medical Genetics. Part A, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
Piccolo P et al.
European Journal of Human Genetics : Ejhg, 2014
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V et al.
American Journal of Medical Genetics. Part A, 2014