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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn SequencingLilian Downie, Julie Yeo, Thomas Minten, et al.
Life Science Alliance|January 5, 2024
<i>USP27X</i> variants underlying X-linked intellectual disability disrupt protein function via distinct mechanismsIntisar Koch, Maya Slovik, Yuling Zhang, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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