Associated Papers
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
37964426 (PubMed )
Supplement: MDS-39-141-s002.docx
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Drexler KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Harris S et al.
Prenatal Diagnosis, 2023
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Select a paper to view details