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1. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

5. Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

8. Secondary structure of the human mitochondrial genome affects formation of deletions

9. Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

11. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

15. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

20. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

21. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

22. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

23. Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

25. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

27. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

28. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

29. Comparative analysis of the transcriptome across distant species.

30. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

32. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

33. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

34. Landscape of transcription in human cells

39. Low number of fixed somatic mutations in a long-lived oak tree

42. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

43. Additional file 1 of Secondary structure of the human mitochondrial genome affects formation of deletions

44. Additional file 2 of Secondary structure of the human mitochondrial genome affects formation of deletions

45. Additional file 4 of Secondary structure of the human mitochondrial genome affects formation of deletions

46. Additional file 3 of Secondary structure of the human mitochondrial genome affects formation of deletions

50. Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

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