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American Journal of Medical Genetics. Part A|November 25, 2022
Genetic and phenotypic spectrum in the NONO-associated syndromic disorderFranziska Roessler, Anita E Beck, Ball Susie, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.
Brain : a Journal of Neurology|October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephalyDiana Alcantara, Andrew E Timms, Karen Gripp, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Human Molecular Genetics|February 12, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaMathilde Huckert, Corinne Stoetzel, Supawich Morkmued, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Mainstreaming of clinical genetic testing: A conceptual frameworkMichael P Mackley, Julie Richer, Andrea Guerin, et al.
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