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Science Advances|May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associationsRanjay Jayadev, Mychel R P T Morais, Jamie M Ellingford, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acidSadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Orphanet Journal of Rare Diseases|April 27, 2020
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disordersMichael Smith, Elizabeth Alexander, Ruta Marcinkute, et al.
Oncotarget|December 23, 2011
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Oncotarget|January 8, 2019
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human heightKatrina Tatton-Brown, Sandra Hanks, Elise Ruark, et al.
Archives of Disease in Childhood|May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencingArunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Human Genetics|August 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosisAndrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, et al.
Nature Communications|February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidineVíctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
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