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3. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

4. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

5. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

6. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

7. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

8. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

13. Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

15. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

16. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

19. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

20. Pathogenic Variants in GPC4 Cause Keipert Syndrome

24. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

25. Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

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