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Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.
The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotypeBertrand Isidor, Frédéric Ebstein, Anna Hurst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
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