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Molecular Genetics & Genomic Medicine|February 26, 2024
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing lossRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.American Journal of Medical Genetics. Part A|August 21, 2024
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 AlphaRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.Cell Reports|March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.Pageof 1