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4 Records found.
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1.
Fountain, M.D.* et al.: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet. Med., accepted (2019)
2.
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
3.
Witteveen, J.S.* et al.: Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat. Genet. 48, 877-887 (2016)
4.
Jacquemont, S.* et al.: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478, 97-102 (2011)