ReviewAnnals of the New York Academy of Sciences2010
Genetic regulation of human brain development: lessons from Mendelian diseases.
Review in Annals of the New York Academy of Sciences, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- MNeuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Article
- NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.bioRxiv : the preprint server for biology · 2024Article
- A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in theDiagnostics (Basel, Switzerland) · 2021Article
- Progenitor cell diversity in the developing mouse neocortex.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Article
- CRISPR Gene-Editing Models Geared Toward Therapy for Hereditary and Developmental Neurological Disorders.Frontiers in pediatrics · 2021Review
- A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect.The Journal of biological chemistry · 2018Article
- Genetic associations with reflexive visual attention in infancy and childhood.Developmental science · 2017Article
- Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.The Journal of biological chemistry · 2016Article
- MAOA Influences the Trajectory of Attentional Development.Frontiers in human neuroscience · 2016Article
- Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study.Journal of neurodevelopmental disorders · 2015Article
- Neurobiology: building a bigger brain.Nature · 2014Article
- Roles of heat shock factor 1 in neuronal response to fetal environmental risks and its relevance to brain disorders.Neuron · 2014Article
- A chronological expression profile of gene activity during embryonic mouse brain development.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
One of the fundamental goals in human genetics is to link gene function to phenotype, yet the function of the majority of the genes in the human body is still poorly understood. This is especially true for the developing human brain. The study of human phenotypes that result from inherited, mutated alleles is the most direct evidence for the requirement of a gene in human physiology. Thus, the study of Mendelian central nervous system (CNS) diseases can be an extremely powerful approach to elucidate such phenotypic/genotypic links and to increase our understanding of the key components required for development of the human brain. In this review, we highlight examples of how the study of inherited neurodevelopmental disorders contributes to our knowledge of both the "normal" and diseased human brain, as well as elaborate on the future of this type of research. Mendelian disease research has been, and will continue to be, key to understanding the molecular mechanisms that underlie human brain function, and will ultimately form a basis for the design of intelligent, mechanism-specific treatments for nervous system disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.