Last Updated: 09/26/2026
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Found 28 publications
Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.
Journal: HGG advances
Published: November 19, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Prenatal Diagnosis of ANKLE2-Related Microcephaly Mimicking Zika Infection.
Journal: Neuropediatrics
Published: September 12, 2025
Carbonic anhydrase VA deficiency due to a novel CA5A variant.
Journal: Molecular genetics and metabolism reports
Published: August 18, 2025
Prenatal Diagnosis of a Large Lymphovascular Malformation.
Journal: NeoReviews
Published: June 09, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Journal: American journal of human genetics
Published: January 02, 2025
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 23, 2024
Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.
Journal: Prenatal diagnosis
Published: June 23, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Journal: Prenatal diagnosis
Published: March 31, 2023
Last Updated: 09/26/2026