E-LIB Suche - Ergebnisse für: Vives, Laura

1

Corrigendum: Discovery and genotyping of structural variati..:

Huddleston, John ; Chaisson, Mark J.P. ; Steinberg, Karyn Meltz...
Genome Research. 28 (2018) 1 - p. 144-144 , 2018

Link: https://doi.org/10.1101/..

2

Targeted sequencing identifies 91 neurodevelopmental-disord..:

Stessman, Holly A F ; Xiong, Bo ; Coe, Bradley P...
Nature Genetics. 49 (2017) 4 - p. 515-526 , 2017

Link: https://doi.org/10.1038/..

3

Corrigendum: The evolution of African great ape subtelomeri..:

Ventura, Mario ; Catacchio, Claudia R. ; Sajjadian, Saba...
Genome Research. 27 (2017) 9 - p. 1621.1-1621.1 , 2017

Link: https://doi.org/10.1101/..

4

Discovery and genotyping of structural variation from long-..:

Huddleston, John ; Chaisson, Mark J.P. ; Steinberg, Karyn Meltz...
Genome Research. 27 (2016) 5 - p. 677-685 , 2016

Link: https://doi.org/10.1101/..

5

De novo genic mutations among a Chinese autism spectrum dis..:

Wang, Tianyun ; Guo, Hui ; Xiong, Bo...
Nature Communications. 7 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

6

Excess of rare, inherited truncating mutations in autism:

Krumm, Niklas ; Turner, Tychele N ; Baker, Carl...
Nature Genetics. 47 (2015) 6 - p. 582-588 , 2015

Link: https://doi.org/10.1038/..

7

Whole-Genome Sequencing of Individuals from a Founder Popul..:

Campbell, Catarina D. ; Mohajeri, Kiana ; Malig, Maika...
PLoS ONE. 9 (2014) 8 - p. e104396 , 2014

Link: https://doi.org/10.1371/..

8

Palindromic GOLGA8 core duplicons promote chromosome 15q13...:

Antonacci, Francesca ; Dennis, Megan Y ; Huddleston, John...
Nature Genetics. 46 (2014) 12 - p. 1293-1302 , 2014

Link: https://doi.org/10.1038/..

9

The contribution of de novo coding mutations to autism spec..:

Iossifov, Ivan ; O'Roak, Brian J. ; Sanders, Stephan J....
Nature. 515 (2014) 7526 - p. 216-221 , 2014

Link: https://doi.org/10.1038/..

10

Hominoid fission of chromosome 14/15 and the role of segmen..:

Giannuzzi, Giuliana ; Pazienza, Michele ; Huddleston, John...
Genome Research. 23 (2013) 11 - p. 1763-1773 , 2013

Link: https://doi.org/10.1101/..

11

Multiplex Targeted Sequencing Identifies Recurrently Mutate..:

O'Roak, Brian J. ; Vives, Laura ; Fu, Wenqing...
Science. 338 (2012) 6114 - p. 1619-1622 , 2012

Link: https://www.jstor.org/st..

12

Estimating the human mutation rate using autozygosity in a ..:

Campbell, Catarina D ; Chong, Jessica X ; Malig, Maika...
Nature Genetics. 44 (2012) 11 - p. 1277-1281 , 2012

Link: https://doi.org/10.1038/..

13

The evolution of African great ape subtelomeric heterochrom..:

Ventura, Mario ; Catacchio, Claudia R. ; Sajjadian, Saba...
Genome Research. 22 (2012) 6 - p. 1036-1049 , 2012

Link: https://doi.org/10.1101/..

14

Structural diversity and African origin of the 17q21.31 inv..:

Steinberg, Karyn Meltz ; Antonacci, Francesca ; Sudmant, Peter H...
Nature Genetics. 44 (2012) 8 - p. 872-880 , 2012

Link: https://doi.org/10.1038/..

15

Sporadic autism exomes reveal a highly interconnected prote..:

O'Roak, Brian J. ; Vives, Laura ; Girirajan, Santhosh...
Nature. 485 (2012) 7397 - p. 246-250 , 2012

Link: https://doi.org/10.1038/..