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
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
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.
Pindon A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.
Lee Y et al.
The Journal of Clinical Endocrinology and Metabolism, 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
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.
Elias AF
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 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
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
Spineli-Silva S et al.
American Journal of Medical Genetics. Part A, 2025
Gain-of-function variants in SMAD4 compromise respiratory epithelial function.
Lindsay ME et al.
The Journal of Allergy and Clinical Immunology, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R et al.
Journal of Medical Genetics, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
Myhre syndrome: expanding its paediatric phenotypic spectrum.
Brunet-Garcia L et al.
Cardiology in the Young, 2023
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.
Tüysüz B et al.
European Journal of Medical Genetics, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF et al.
Molecular Syndromology, 2023
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F et al.
Genome Medicine, 2022
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Sherafati A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Natural history of Myhre syndrome.
Yang DD et al.
Orphanet Journal of Rare Diseases, 2022
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
Hara-Isono K et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2022