Shaping faces: genetic and epigenetic control of craniofacial morphogenesis

L Selleri, FM Rijli - Nature Reviews Genetics, 2023 - nature.com
Major differences in facial morphology distinguish vertebrate species. Variation of facial
traits underlies the uniqueness of human individuals, and abnormal craniofacial …

[HTML][HTML] Where the genome meets the connectome: understanding how genes shape human brain connectivity

A Arnatkeviciute, BD Fulcher, MA Bellgrove, A Fornito - Neuroimage, 2021 - Elsevier
The integration of modern neuroimaging methods with genetically informative designs and
data can shed light on the molecular mechanisms underlying the structural and functional …

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

V Warrier, EM Stauffer, QQ Huang, EM Wigdor… - Nature …, 2023 - nature.com
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

[HTML][HTML] Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses

A Mansour, M Mousa, D Abdelmannan, G Tay… - Frontiers in …, 2023 - frontiersin.org
Background Type 2 diabetes mellitus (T2DM) is a chronic, metabolic disorder in which
concomitant insulin resistance and β-cell impairment lead to hyperglycemia, influenced by …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

[HTML][HTML] Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain

CC Fan, R Loughnan, C Makowski, D Pecheva… - Nature …, 2022 - nature.com
The molecular determinants of tissue composition of the human brain remain largely
unknown. Recent genome-wide association studies (GWAS) on this topic have had limited …

[PDF][PDF] DNA-guided transcription factor cooperativity shapes face and limb mesenchyme

S Kim, E Morgunova, S Naqvi, S Goovaerts, M Bader… - Cell, 2024 - cell.com
Transcription factors (TFs) can define distinct cellular identities despite nearly identical DNA-
binding specificities. One mechanism for achieving regulatory specificity is DNA-guided TF …

Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure

L Balagué-Dobón, A Cáceres… - Briefings in …, 2022 - academic.oup.com
Single nucleotide polymorphisms (SNPs) are the most abundant type of genomic variation
and the most accessible to genotype in large cohorts. However, they individually explain a …