Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Opportunities and challenges of whole-genome and-exome sequencing

BS Petersen, B Fredrich, MP Hoeppner, D Ellinghaus… - BMC genetics, 2017 - Springer
Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …

Species-specific segmentation clock periods are due to differential biochemical reaction speeds

M Matsuda, H Hayashi, J Garcia-Ojalvo… - Science, 2020 - science.org
Although mechanisms of embryonic development are similar between mice and humans,
the time scale is generally slower in humans. To investigate these interspecies differences in …

Immunogenicity of induced pluripotent stem cells

T Zhao, ZN Zhang, Z Rong, Y Xu - Nature, 2011 - nature.com
Induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells with defined
factors, hold great promise for regenerative medicine as the renewable source of autologous …

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

H Skaletsky, T Kuroda-Kawaguchi, PJ Minx… - Nature, 2003 - nature.com
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and
comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of …

NKX2-5eGFP/w hESCs for isolation of human cardiac progenitors and cardiomyocytes

DA Elliott, SR Braam, K Koutsis, ES Ng, R Jenny… - Nature …, 2011 - nature.com
NKX2-5 is expressed in the heart throughout life. We targeted eGFP sequences to the NKX2-
5 locus of human embryonic stem cells (hESCs); NKX2-5 eGFP/w hESCs facilitate …

Systematic mapping of nuclear domain-associated transcripts reveals speckles and lamina as hubs of functionally distinct retained introns

AR Barutcu, M Wu, U Braunschweig, BJA Dyakov… - Molecular cell, 2022 - cell.com
The nucleus is highly compartmentalized through the formation of distinct classes of
membraneless domains. However, the composition and function of many of these structures …

MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping

WP Lee, MP Stromberg, A Ward, C Stewart… - PloS one, 2014 - journals.plos.org
MOSAIK is a stable, sensitive and open-source program for mapping second and third-
generation sequencing reads to a reference genome. Uniquely among current mapping …

A physical map of the human genome.

JD McPherson, M Marra, LD Hillier, RH Waterston… - …, 2001 - search.ebscohost.com
Reports the construction of the whole-genome bacterial artificial chromosome (BAC) map
and its integration with previous landmark maps and information from mapping efforts …

Complete humanization of the mouse immunoglobulin loci enables efficient therapeutic antibody discovery

EC Lee, Q Liang, H Ali, L Bayliss, A Beasley… - Nature …, 2014 - nature.com
If immunized with an antigen of interest, transgenic mice with large portions of unrearranged
human immunoglobulin loci can produce fully human antigen-specific antibodies; several …