Clinical genetics and therapeutics

396 - Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD

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386 - The Value of pLI When Disease Mechanism Is Not Well-Established: Classifying LoF Variants in a Clinical Laboratory 

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398 - Prenatal and Postnatal 10q24.32 Duplications Detected by SNP microarray
401 - Novel Findings of Craniosynostosis and Horseshoe Kidney Associated with NOG Pathogenic Variant and Stapes Ankylosis with Broad Thumbs and Toes (SABTT)
405 - Integrating Facial Recognition Analysis to Routine Clinical Practice: Lessons from the Evaluation of 30 Undiagnosed Individuals
408 - Effect of Long-Term Migalastat Treatment on Lyso-Gb3 Levels in Patients With Fabry Disease: Results From ATTRACT and Open-Label Extension Studies
410 - A De Novo Homozygous SPTAN1 Variant with Uniparental Isodisomy 9 Resulting in Autosomal Recessive Ataxia and Intellectual Disability
417 - Paternal Isodisomy and Blended Phenotypes: A Pediatric Case with Mosaic Trisomy 8 and a Homozygous CSGALNACT1 Missense Variant
420 - Emerging Genetic Disorders and Addressing Phenotypic Variability: Xia-Gibbs Syndrome
422 - An Analysis of Clinical Documentation Submitted with Diagnostic Exome Sequencing Orders and the Added Burden or Benefit of Insurance Billing
424 - A Precision Whole Genomic Approach in Individuals with Vision and Hearing Loss
425 - Applying the ClinGen Gene-Disease Validity Framework During Reporting for a Clinical Whole Genome Sequencing Test