developmental disorders phenotype

Aliases

DD

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Mentioned in (22)

Papers in which this entity is mentioned.

• Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders. (2025)
• Transcription start sites experience a high influx of heritable variants fueled by early development. (2025)
• Subcortical volume in middle-aged adults with fetal alcohol spectrum disorders. (2024)
• mutations, genetic mosaicism and human disease. (2022)
• Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
• Neurodevelopment in adolescents and adults with fetal alcohol spectrum disorders (FASD): A magnetic resonance region of interest analysis. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• The enduring impact of neurulation stage alcohol exposure: A combined behavioral and structural neuroimaging study in adult male and female C57BL/6J mice. (2018)
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
• Gene-environment interactions in development and disease. (2017)
• Fetal Alcohol Spectrum Disorders: A Case Study. (2017)
• Fast and Accurate Genomic Analyses using Genome Graphs (2017)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Computed tomography assessment of peripubertal craniofacial morphology in a sheep model of binge alcohol drinking in the first trimester. (2015)
• Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate. (2013)
• Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
• The quest for a neurobehavioral profile of heavy prenatal alcohol exposure. (2011)
• Fetal alcohol spectrum disorders: research challenges and opportunities. (2011)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. (2009)
• GitHub - im3sanger/dndscv: dN/dS methods to quantify selection in cancer and somatic evolution · GitHub

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