E-LIB Suche - Ergebnisse für: Navarro-Gomez, Daniel

1

Individualized, heterologous chimpanzee adenovirus and self..:

Palmer, Christine D. ; Rappaport, Amy R. ; Davis, Matthew J....
Nature Medicine. 28 (2022) 8 - p. 1619-1629 , 2022

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

2

Copy-number variation contributes 9% of pathogenicity in th..:

Zampaglione, Erin ; Kinde, Benyam ; Place, Emily M....
Genetics in Medicine. 22 (2020) 6 - p. 1079-1087 , 2020

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

3

A combined RNA-seq and whole genome sequencing approach for..:

Pierce, Eric A ; Gamm, David M ; Bujakowska, Kinga M...
Human Molecular Genetics. 29 (2020) 6 - p. 967-979 , 2020

Link: https://doi.org/10.1093/..

4

Contribution of noncoding pathogenic variants to RPGRIP1-me..:

Jamshidi, Farzad ; Place, Emily M. ; Mehrotra, Sudeep...
Genetics in Medicine. 21 (2019) 3 - p. 694-704 , 2019

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

5

Copy-number variation is an important contributor to the ge..:

Bujakowska, Kinga M. ; Fernandez-Godino, Rosario ; Place, Emily...
Genetics in Medicine. 19 (2017) 6 - p. 643-651 , 2017

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

6

The Genetic Basis of Pericentral Retinitis Pigmentosa—A For..:

Comander, Jason ; Weigel-DiFranco, Carol ; Maher, Matthew...
Genes. 8 (2017) 10 - p. 256 , 2017

Link: https://doi.org/10.3390/..

7

Whole exome sequencing identification of novel candidate ge..:

Ung, Cindy ; Sanchez, Angie V. ; Shen, Lishuang...
Vision Research. 139 (2017) - p. 168-176 , 2017

Link: https://doi.org/10.1016/..

8

International mentoring as a new educational approach to al..:

Soriano-Carot, María ; Bretón-Romero, Rosa ; López-Herraiz, Joaquín...
Nature Biotechnology. 35 (2017) 3 - p. 285-288 , 2017

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

9

NOD2 genetic variants and sarcoidosis-associated uveitis:

Davoudi, Samaneh ; Navarro-Gomez, Daniel ; Shen, Lishuang...
American Journal of Ophthalmology Case Reports. 3 (2016) - p. 39-42 , 2016

Link: https://doi.org/10.1016/..

10

Mitochondrial Disease Sequence Data Resource (MSeqDR): A gl..:

Falk, Marni J. ; Shen, Lishuang ; Gonzalez, Michael...
Molecular Genetics and Metabolism. 114 (2015) 3 - p. 388-396 , 2015

Link: https://doi.org/10.1016/..

11

MSeqDR: Making genomics accessible to the mitochondrial dis..:

Falk, Marni J. ; Shen, Lishuang ; Gonzalez, Michael...
Mitochondrion. 24 (2015) - p. S2-S3 , 2015

Link: https://doi.org/10.1016/..

12

Panel-based genetic diagnostic testing for inherited eye di..:

Consugar, Mark B. ; Navarro-Gomez, Daniel ; Place, Emily M....
Genetics in Medicine. 17 (2015) 4 - p. 253-261 , 2015

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

13

Phy-Mer: a novel alignment-free and reference-independent m..:

Navarro-Gomez, Daniel ; Leipzig, Jeremy ; Shen, Lishuang...
Bioinformatics. 31 (2014) 8 - p. 1310-1312 , 2014

Link: https://doi.org/10.1093/..

14

Copy-number variation contributes 9% of pathogenicity in th..:

Zampaglione, Erin ; Kinde, Benyam ; Place, Emily M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272325/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Contribution of non-coding mutations to RPGRIP1-mediated in..:

Jamshidi, Farzad ; Place, Emily M ; Mehrotra, Sudeep...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075/. , 2018

Link: http://www.ncbi.nlm.nih...