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European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.
Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, 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.
Ophthalmology|March 26, 2017
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal DiseaseRachel L Taylor, Neil R A Parry, Stephanie J Barton, 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.
Clinical Genetics|July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementSofia Douzgou, Myfanwy Rawson, Eulalia Baselga, 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.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.
Human Molecular Genetics|January 6, 2017
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disordersJochem M G Evers, Roman A Laskowski, Marta Bertolli, et al.
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