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2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

3. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

4. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

5. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

7. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

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