# Genetics and Neurodevelopmental Disorders
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/
## Facts
| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11772 |
| Works | 420 |
## Topic papers all
Showing 15 of 420.
- [Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls](https://scholariq.org/papers/genome-wide-association-study-of-14-000-cases-of-seven-common-diseases-and-3-000/)
- [Construction of a genetic linkage map in man using restriction fragment length polymorphisms.](https://scholariq.org/papers/construction-of-a-genetic-linkage-map-in-man-using-restriction-fragment-length/)
- [Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease](https://scholariq.org/papers/cloning-of-a-gene-bearing-missense-mutations-in-early-onset-familial-alzheimer-s/)
- [Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression](https://scholariq.org/papers/genome-wide-association-analyses-identify-44-risk-variants-and-refine-the/)
- [A genome-wide association study identifies novel risk loci for type 2 diabetes](https://scholariq.org/papers/a-genome-wide-association-study-identifies-novel-risk-loci-for-type-2-diabetes/)
- [Synaptic, transcriptional and chromatin genes disrupted in autism](https://scholariq.org/papers/synaptic-transcriptional-and-chromatin-genes-disrupted-in-autism/)
- [Global prevalence of autism: A systematic review update](https://scholariq.org/papers/global-prevalence-of-autism-a-systematic-review-update/)
- [Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism](https://scholariq.org/papers/large-scale-exome-sequencing-study-implicates-both-developmental-and-functional/)
- [Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs](https://scholariq.org/papers/genetic-relationship-between-five-psychiatric-disorders-estimated-from-genome/)
- [Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder](https://scholariq.org/papers/discovery-of-the-first-genome-wide-significant-risk-loci-for-attention-deficit/)
- [Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes](https://scholariq.org/papers/variant-of-transcription-factor-7-like-2-tcf7l2-gene-confers-risk-of-type-2/)
- [Genome-wide association study identifies five new schizophrenia loci](https://scholariq.org/papers/genome-wide-association-study-identifies-five-new-schizophrenia-loci/)
- [Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis](https://scholariq.org/papers/twelve-type-2-diabetes-susceptibility-loci-identified-through-large-scale/)
- [Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection](https://scholariq.org/papers/common-schizophrenia-alleles-are-enriched-in-mutation-intolerant-genes-and-in/)
- [Genome-wide association study identifies 30 loci associated with bipolar disorder](https://scholariq.org/papers/genome-wide-association-study-identifies-30-loci-associated-with-bipolar/)
## Topic primary papers
Showing 15 of 98.
- [Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders](https://scholariq.org/papers/mutations-in-the-gene-encoding-the-synaptic-scaffolding-protein-shank3-are/)
- [Rett syndrome: Revised diagnostic criteria and nomenclature](https://scholariq.org/papers/rett-syndrome-revised-diagnostic-criteria-and-nomenclature/)
- [doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein](https://scholariq.org/papers/doublecortin-a-brain-specific-gene-mutated-in-human-x-linked-lissencephaly-and/)
- [A developmental and genetic classification for malformations of cortical development: update 2012](https://scholariq.org/papers/a-developmental-and-genetic-classification-for-malformations-of-cortical-2/)
- [Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates](https://scholariq.org/papers/fragile-x-premutation-tremor-ataxia-syndrome-molecular-clinical-and-neuroimaging/)
- [A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice](https://scholariq.org/papers/a-humanized-version-of-foxp2-affects-cortico-basal-ganglia-circuits-in-mice/)
- [Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056](https://scholariq.org/papers/epigenetic-modification-of-the-i-fmr1-i-gene-in-fragile-x-syndrome-is-associated/)
- [Hepatic specification of the gut endoderm in vitro: cell signaling and transcriptional control.](https://scholariq.org/papers/hepatic-specification-of-the-gut-endoderm-in-vitro-cell-signaling-and/)
- [Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation](https://scholariq.org/papers/oligophrenin-1-encodes-a-rhogap-protein-involved-in-x-linked-mental-retardation/)
- [Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome](https://scholariq.org/papers/specific-mutations-in-i-methyl-cpg-binding-protein-2-i-confer-different-severity/)
- [Association of FMR1 repeat size with ovarian dysfunction](https://scholariq.org/papers/association-of-fmr1-repeat-size-with-ovarian-dysfunction/)
- [GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction](https://scholariq.org/papers/grin2a-mutations-in-acquired-epileptic-aphasia-and-related-childhood-focal/)
- [Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)](https://scholariq.org/papers/genetic-contributions-to-variation-in-general-cognitive-function-a-meta-analysis/)
- [Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo](https://scholariq.org/papers/genome-wide-association-for-major-depressive-disorder-a-possible-role-for-the/)
- [Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder](https://scholariq.org/papers/genome-wide-copy-number-variation-study-associates-metabotropic-glutamate/)
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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.