The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine

Por Blau, Ashley, Brown, Alison, Mahanta, Lisa, Amr, Sami S.
Publicado no J Pers Med (2016)

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

Por Azab, Belal, Dardas, Zain, Hamarsheh, Mohannad, Alsalem, Mohammad, Kilani, Zaid, Kilani, Farah, Awidi, Abdalla, Jafar, Hanan, Amr, Sami
Publicado no Mol Genet Metab Rep (2017)

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Por Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.
Publicado no Genet Med (2016)

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Por Amr, Sami , Heisey, Cindy , Zhang, Min , Xia, Xia-Juan , Shows, Kathryn H. , Ajlouni, Kamel , Pandya, Arti , Satin, Leslie S. , El-Shanti, Hatem , Shiang, Rita 
Publicado em 2007

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Por Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.
Publicado no Mol Genet Genomic Med (2015)

HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay

Por Sunshine, Sara, Kirchner, Rory, Amr, Sami S., Mansur, Leandra, Shakhbatyan, Rimma, Kim, Michelle, Bosque, Alberto, Siliciano, Robert F., Planelles, Vicente, Hofmann, Oliver, Ho Sui, Shannan, Li, Jonathan Z.
Publicado no J Virol (2016)

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

Por Jones, Melanie A., Amr, Sami, Ferebee, Aerial, Huynh, Phung, Rosenfeld, Jill A., Miles, Michael F., Davies, Andrew G., Korey, Christopher A., Warrick, John M., Shiang, Rita, Elsea, Sarah H., Girirajan, Santhosh, Grotewiel, Mike
Publicado em 2014

Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans

Por Carmona, Juan J., Accomando, William P., Binder, Alexandra M., Hutchinson, John N., Pantano, Lorena, Izzi, Benedetta, Just, Allan C., Lin, Xihong, Schwartz, Joel, Vokonas, Pantel S., Amr, Sami S., Baccarelli, Andrea A., Michels, Karin B.
Publicado no NPJ Genom Med (2017)

Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss

Por Basaria, Shehzad, Jasuja, Ravi, Huang, Grace, Wharton, Whitney, Pan, Hong, Pencina, Karol, Li, Zhuoying, Travison, Thomas G., Bhawan, Jag, Gonthier, Renaud, Labrie, Fernand, Dury, Alain Y., Serra, Carlo, Papazian, Allen, O'Leary, Michael, Amr, Sami, Storer, Thomas W., Stern, Emily, Bhasin, Shalender
Publicado no J Clin Endocrinol Metab (2016)