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American Journal of Human Genetics|September 6, 2008
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndromeClaudia Canzonetta, Claire Mulligan, Samuel Deutsch, et al.
Nature|April 18, 2014
Domains of genome-wide gene expression dysregulation in Down's syndromeAudrey Letourneau, Federico A Santoni, Ximena Bonilla, et al.
EMBO Molecular Medicine|May 31, 2017
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotesZine-Eddine Kherraf, Marie Christou-Kent, Thomas Karaouzene, et al.
Plos Genetics|May 3, 2014
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingPatrick Callier, Pierre Calvel, Armine Matevossian, et al.
Genome Research|June 21, 2013
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndromeM Reza Sailani, Periklis Makrythanasis, Armand Valsesia, et al.
HGG Advances|May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeCongcong Ma, Na Chen, Angad Jolly, et al.
European Journal of Human Genetics : EJHG|December 20, 2012
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversityTõnu Esko, Massimo Mezzavilla, Mari Nelis, et al.
Plos One|January 13, 2012
Evidence for transcript networks composed of chimeric RNAs in human cellsSarah Djebali, Julien Lagarde, Philipp Kapranov, et al.
Plos One|May 9, 2009
Genetic structure of Europeans: a view from the North-EastMari Nelis, Tõnu Esko, Reedik Mägi, et al.
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