| | Title | Authors / Editors | Date |
|
unige:157600 |
Lessons learned from 40 novel PIGA patients and a review of the literature |
Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; ... Møller, Rikke S |
2020 |
|
unige:116068 |
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia |
BELNEU Consortium, EU EOD Consortium |
2018 |
|
unige:128287 |
De novo variants in neurodevelopmental disorders with epilepsy |
Heyne, Henrike O; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; ... Lemke, Johannes R |
2018 |
|
unige:107418 |
GSTA1 Genetic Variants and Conditioning Regimen: Missing Key Factors in Dosing Guidelines of Busulfan in Pediatric Hematopoietic Stem Cell Transplantation |
Nava, Tiago; Rezgui, Mohamed A; Uppugunduri Satyanarayana, Chakradhara Rao; Curtis, Patricia; ... Bittencourt, Henrique |
2017 |
|
unige:42274 |
Guidelines for investigating causality of sequence variants in human disease |
MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; ... Gunter, C |
2014 |
|
unige:90578 |
Defining the role of common variation in the genomic and biological architecture of adult human height |
Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja; ... Goddard, Michael E |
2014 |
|
unige:34328 |
Transcriptome and genome sequencing uncovers functional variation in humans |
Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil |
2013 |
|
unige:43643 |
Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls |
Brenner, Darren R; Brennan, Paul; Boffetta, Paolo; Amos, Christopher I; ... Hung, Rayjean J |
2013 |
|
unige:40633 |
Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies |
Nguyen, Khanh-Dung H; Pihur, Vasyl; Ganesh, Santhi K; Rakha, Ankit; ... Chakravarti, Aravinda |
2013 |
|
unige:45216 |
An integrated map of genetic variation from 1,092 human genomes |
1000 Genomes Project Consortium |
2012 |
|
unige:45205 |
Identification of VPS35 mutations replicated in French families with Parkinson disease |
Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A |
2012 |
|
unige:32177 |
Insights into hominid evolution from the gorilla genome sequence |
Scally, Aylwyn |
2012 |
|
unige:37818 |
An integrated encyclopedia of DNA elements in the human genome |
ENCODE Project Consortium |
2012 |
|
unige:45211 |
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies |
Nalls, Michael A; Plagnol, Vincent; Hernandez, Dena G; Sharma, Manu; ... Wood, Nicholas W |
2011 |
|
unige:45219 |
A map of human genome variation from population-scale sequencing |
1000 Genomes Project Consortium |
2010 |
|
unige:9143 |
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project |
Birney, Ewan |
2007 |
|
unige:39540 |
Identification of low frequency knockout mutants in Dictyostelium discoideum created by single or double homologous recombination |
Charette, Steve; Cornillon, Sophie Marie; Cosson, Pierre |
2006 |
|
unige:30558 |
Comparative architectures of mammalian and chicken genomes reveal highly variable rates of genomic rearrangements across different lineages |
Bourque, Guillaume; Zdobnov, Evgeny; Bork, Peer; Pevzner, Pavel A; Tesler, Glenn |
2005 |
|
unige:8717 |
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment |
Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos |
2004 |
|
unige:2130 |
Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis |
Quintana-Murci, Lluís; Veitia, Reiner; Fellous, Marc; Semino, Ornella; Poloni, Estella S. |
2003 |
Genetic Variation/genetics
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