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Deanna Church
Deanna Church
Executive in Residence, General Inception
Bestätigte E-Mail-Adresse bei generalinception.com
Titel
Zitiert von
Zitiert von
Jahr
Initial sequencing and analysis of the human genome
US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ...
nature 409 (6822), 860-921, 2001
301982001
Initial sequencing and comparative analysis of the mouse genome
European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ...
Nature 420 (6915), 520-562, 2002
85312002
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82352012
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
ME MacDonald, CM Ambrose, MP Duyao, RH Myers, C Lin, L Srinidhi, ...
Cell 72 (6), 971-983, 1993
73251993
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Management Group Liefer Laura A. 51 Wetterstrand Kris A. 51 Good Peter J. 51 ...
nature 447 (7146), 799-816, 2007
59962007
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
JD Brook, ME McCurrach, HG Harley, AJ Buckler, D Church, H Aburatani, ...
Cell 68 (4), 799-808, 1992
32921992
Database resources of the national center for biotechnology information
EW Sayers, T Barrett, DA Benson, E Bolton, SH Bryant, K Canese, ...
Nucleic acids research 39 (suppl_1), D38-D51, 2010
31462010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ...
The American Journal of Human Genetics 86 (5), 749-764, 2010
31202010
ClinVar: public archive of relationships among sequence variation and human phenotype
MJ Landrum, JM Lee, GR Riley, W Jang, WS Rubinstein, DM Church, ...
Nucleic acids research 42 (D1), D980-D985, 2014
27222014
Database resources of the national center for biotechnology information
DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, V Chetvernin, ...
Nucleic acids research 36 (suppl_1), D13-D21, 2007
22092007
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
R Shiang, LM Thompson, YZ Zhu, DM Church, TJ Fielder, M Bocian, ...
Cell 78 (2), 335-342, 1994
15991994
Database resources of the National Center for Biotechnology
DL Wheeler, DM Church, S Federhen, AE Lash, TL Madden, JU Pontius, ...
Nucleic acids research 31 (1), 28-33, 2003
10872003
Database resources of the national center for biotechnology information
DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, V Chetvernin, ...
Nucleic acids research 34 (suppl_1), D173-D180, 2006
884*2006
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe, N Bouk, HC Chen, PA Kitts, ...
Genome research 27 (5), 849-864, 2017
8792017
Direct determination of diploid genome sequences
NI Weisenfeld, V Kumar, P Shah, DM Church, DB Jaffe
Genome research 27 (5), 757-767, 2017
7952017
Multi-platform discovery of haplotype-resolved structural variation in human genomes
MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ...
Nature communications 10 (1), 1784, 2019
7502019
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms
Genome sequence of red jungle fowl: Washington University School of Medicine ...
Nature 432 (7018), 717-722, 2004
6242004
Lineage-specific biology revealed by a finished genome assembly of the mouse
DM Church, L Goodstadt, LDW Hillier, MC Zody, S Goldstein, X She, ...
PLoS biology 7 (5), e1000112, 2009
6132009
Database resources of the national center for biotechnology information
DL Wheeler, T Barrett, DA Benson, SH Bryant, K Canese, DM Church, ...
Nucleic acids research 33 (suppl_1), D39-D45, 2005
5972005
Modernizing reference genome assemblies
DM Church, VA Schneider, T Graves, K Auger, F Cunningham, N Bouk, ...
PLoS biology 9 (7), e1001091, 2011
5832011
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