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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

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Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

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Diagnostic exome sequencing in persons with severe intellectual disability

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Genome sequencing identifies major causes of severe intellectual disability

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The genetic architecture of the human cerebral cortex

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Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature

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A de novo paradigm for mental retardation.

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The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

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Presence of Genetic Variants Among Young Men With Severe COVID-19

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

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Diagnostic genome profiling in mental retardation

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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Novel genetic loci associated with hippocampal volume

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Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics

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