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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 21, 2025
Journaling for Parents and Adults With Myhre Syndrome: Using Reflective Writing to Help CopeRachel Gottlieb, Ashley W Wong, Allison L Cirino, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 11, 2025
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X ChromosomeMarisa E Cicione, Ashley W Wong, Eloise Aragon, et al.
American Journal of Medical Genetics. Part A|July 23, 2022
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 phenotypesGregory M Gheewalla, Jay Luther, Saumya Das, et al.
The Journal of Allergy and Clinical Immunology|September 7, 2024
Gain-of-function variants in SMAD4 compromise respiratory epithelial functionMark E Lindsay, Eleanor R Scimone, Joseph Lawton, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
American Journal of Medical Genetics. Part A|May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
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