A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Engineered materials for organoid systems

MJ Kratochvil, AJ Seymour, TL Li, SP Paşca… - Nature Reviews …, 2019 - nature.com
Organoids are 3D cell culture systems that mimic some of the structural and functional
characteristics of an organ. Organoid cultures provide the opportunity to study organ-level …

Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis

A Jourdon, F Wu, J Mariani, D Capauto, S Norton… - Nature …, 2023 - nature.com
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear
how convergent biological processes in affected individuals may give rise to symptoms …

Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

The rise of three-dimensional human brain cultures

SP Pașca - Nature, 2018 - nature.com
Pluripotent stem cells show a remarkable ability to self-organize and differentiate in vitro in
three-dimensional aggregates, known as organoids or organ spheroids, and to recapitulate …

Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility

V Volpato, C Webber - Disease models & mechanisms, 2020 - journals.biologists.com
Induced pluripotent stem cell (iPSC) technologies have provided in vitro models of
inaccessible human cell types, yielding new insights into disease mechanisms especially for …

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

ASE Cuomo, DD Seaton, DJ McCarthy… - Nature …, 2020 - nature.com
Recent developments in stem cell biology have enabled the study of cell fate decisions in
early human development that are impossible to study in vivo. However, understanding how …

Common genetic variation drives molecular heterogeneity in human iPSCs

H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo… - Nature, 2017 - nature.com
Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous
potential to provide improved cellular models of human disease. However, variable genetic …

Intratumoral heterogeneity: more than just mutations

K Hinohara, K Polyak - Trends in cell biology, 2019 - cell.com
Most human tumors are composed of genetically and phenotypically heterogeneous cancer
cell populations, which poses a major challenge for the clinical management of cancer …

Induced pluripotent stem cells 10 years later: for cardiac applications

Y Yoshida, S Yamanaka - Circulation research, 2017 - Am Heart Assoc
Induced pluripotent stem cells (iPSCs) are reprogrammed cells that have features similar to
embryonic stem cells, such as the capacity of self-renewal and differentiation into many …