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  1. Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.

    Publication

  2. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

    Publication

  3. A human pleiotropic multiorgan condition caused by deficient Wnt secretion.

    Publication

  4. Developmental and temporal characteristics of clonal sperm mosaicism.

    Publication

  5. Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly.

    Publication

  6. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

    Publication

  7. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

    Publication

  8. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

    Publication

  9. Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

    Publication

  10. Paternally inherited cis-regulatory structural variants are associated with autism.

    Publication

  11. Biallelic variants in KIF14 cause intellectual disability with microcephaly.

    Publication

  12. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.

    Publication

  13. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder.

    Publication

  14. Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features.

    Publication

  15. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.

    Publication

  16. Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly.

    Publication

  17. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development.

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  18. Inactivating mutations in MFSD2A required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

    Publication

  19. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

    Publication

  20. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Publication

  21. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

    Publication

  22. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

    Publication

  23. The genetic landscape of autism spectrum disorders.

    Publication

  24. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

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  25. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

    Publication

  26. Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia.

    Publication

  27. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

    Publication

  28. Exome sequencing can improve diagnosis and alter patient management.

    Publication

  29. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

    Publication

  30. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

    Publication

  31. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

    Publication

  32. Modeling human disease in humans: The ciliopathies.

    Publication