Useful for the KNL1/CASC5 experimental rationale and bibliography trail.
Atlas / Bibliography
MCPH Literature Map
This page starts from Mario Santamaria Canas' 2021 Master's thesis bibliography, then turns it into a living reading map for primary microcephaly, KNL1/CASC5, neural progenitors, genome editing, and cross-condition genetic intersections.
PanelApp, HGNC, OMIM, Gene2Phenotype, Open Targets, GWAS Catalog, ClinGen.
Extracted seed bibliography
Important sources already visible in Mario's thesis.
KNL1 / CASC5 and kinetochore biology
- Genin et al. 2012. Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
- Caldas and DeLuca 2014. KNL1: bringing order to the kinetochore.
- Cheeseman et al. 2004, 2006, 2008. Core kinetochore assembly and KMN network function.
- Kiyomitsu et al. 2007. Human Blinkin/AF15q14 in chromosome alignment and mitotic checkpoint control.
- Takimoto 2017. D40/KNL1/CASC5 and autosomal recessive primary microcephaly.
Primary microcephaly genetics
- Jayaraman, Bae, and Walsh 2018. The genetics of primary microcephaly.
- Jean, Stuart, and Tarailo-Graovac 2020. Dissecting the genetic and etiological causes of primary microcephaly.
- Saadi et al. 2016. Refining the phenotype associated with CASC5 mutation.
- Szczepanski et al. 2016. Homozygous splicing mutation of CASC5 causing primary microcephaly.
- Verloes, Drunat, and Passemard 2020. ASPM primary microcephaly, GeneReviews.
Brain evolution and neural development
- Finlay and Darlington 1995. Linked regularities in mammalian brain development and evolution.
- Montgomery et al. 2011. Adaptive evolution of four microcephaly genes in anthropoid primates.
- Montgomery, Mundy, and Barton 2014. ASPM and mammalian brain evolution.
- Sousa et al. 2017. Evolution of the human nervous system: function, structure, and development.
- Miller et al. 2019. Cellular diversity in the human cerebral cortex.
iPSC and genome editing methods
- Takahashi and Yamanaka 2006. Induction of pluripotent stem cells.
- Shi, Inoue, Wu, and Yamanaka 2017. iPSC technology: a decade of progress.
- Ran et al. 2013. Genome engineering using the CRISPR-Cas9 system.
- Komor, Badran, and Liu 2017. CRISPR-based technologies for eukaryotic genome manipulation.
- Anzalone, Koblan, and Liu 2020. Genome editing with Cas nucleases, base editors, transposases, and prime editors.
Update queue
What the next literature pass should add.
Mario's bibliography is useful but not enough for this atlas. It is focused on KNL1/CASC5, CRISPR editing, iPSCs, and brain evolution. The next pass should add systematic sources for the full MCPH gene set, recent clinical panels, current gene-disease validity, and cross-condition association evidence. This includes newer microcephaly reviews, PanelApp Severe Microcephaly evidence levels, Gene2Phenotype mechanisms, OMIM phenotypes, ClinGen validity where curated, and Open Targets/GWAS Catalog disease-trait associations.
The first structured expansion is now in the deep research map, which adds a reproducible search protocol, recent cohort papers, KNL1/CASC5 literature, Gabriel Santpere's developmental-genomics line, and cross-disorder psychiatric-genomics anchors.
Reading themes
The bibliography should answer biological questions, not just list papers.
Why microcephaly genes hit progenitors
Centrosomes, spindle orientation, kinetochore function, chromosome segregation, DNA repair, and cell-cycle timing converge on neural progenitor output.
Why MCPH genes intersect psychiatric traits
The heatmap's trait columns ask whether developmental brain-size genes also carry signal in ASD, SCZ, cognition, neuroticism, AD, PD, and related traits.
Why symbol history matters
KNL1/CASC5 and TRAPPC14/C7orf43 show how database age can hide real genes unless alias normalization is explicit.
Why the plot needs explanation
The original figure is a compressed multi-omics argument. The atlas must unpack each visual block into data source, transformation, and biological interpretation.