Bis, Dana M.: search on Z-Library

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1

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Sh

Journal:

Nature Genetics

Year:

2020

File:

PDF, 4.98 MB

2020

2

Variantpathogenicity evaluationin the community-driven Inherited Neuropathy Variant Browser

Saghira, Cima, Bis, Dana M., Stanek, David, Strickland, Alleene, Herrmann, David N., Reilly, Mary M, Scherer, Steven S., Shy, Michael E, Züchner, Stephan

Journal:

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

3

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 712 KB

english, 2017

4

Assessing non-Mendelian inheritance in inherited axonopathies

Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Su

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 625 KB

2020

5

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Smith, Gaynor A., Lin, Tzu-Huai, Sheehan, Amy E., Van der Goes van Naters, Wynand, Neukomm, Lukas J., Graves, Hillary K., Bis-Brewer, Dana M., Züchner, Stephan, Freeman, Marc R.

Journal:

Year:

2019

Language:

english

File:

PDF, 5.96 MB

english, 2019

6

Prot2HG: a database of protein domains mapped to the human genome

Stanek, David, Bis-Brewer, Dana M, Saghira, Cima, Danzi, Matt C, Seeman, Pavel, Lassuthova, Petra, Zuchner, Stephan

Journal:

Year:

2020

File:

PDF, 722 KB

2020

7

Genetic modifiers and non-Mendelian aspects of CMT

Bis-Brewer, Dana M., Fazal, Sarah, Züchner, Stephan

Journal:

Year:

2020

Language:

english

File:

PDF, 978 KB

english, 2020

8

Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Alqahtani, Norah, Porwal, Suheel K., James, Elle D., Bis, Dana M., Karty, Jonathan A., Lane, Amy L., Viswanathan, Rajesh

Journal:

Organic & Biomolecular Chemistry

Year:

2015

Language:

english

File:

PDF, 8.93 MB

english, 2015

9

Correction: Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Alqahtani, Norah, Porwal, Suheel K., James, Elle D., Bis, Dana M., Karty, Jonathan A., Lane, Amy L., Viswanathan, Rajesh

Journal:

Organic & Biomolecular Chemistry

Year:

2015

Language:

english

File:

PDF, 574 KB

english, 2015

10

A network biology approach to unraveling inherited axonopathies

Bis-Brewer, Dana M., Danzi, Matt C., Wuchty, Stefan, Züchner, Stephan

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 2.29 MB

english, 2019

11

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Cortese, Andrea, Zhu, Yi, Rebelo, Adriana P., Negri, Sara, Courel, Steve, Abreu, Lisa, Bacon, Chelsea J., Bai, Yunhong, Bis-Brewer, Dana M., Bugiardini, Enrico, Buglo, Elena, Danzi, Matt C., Feely, Sh

Journal:

Nature Genetics

Year:

2020

File:

PDF, 521 KB

2020

12

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Maciel, Renata, Bis, Dana M., Rebelo, Adriana P., Saghira, Cima, Züchner, Stephan, Saporta, Mario A.

Journal:

Experimental Neurology

Year:

2018

Language:

english

File:

PDF, 2.86 MB

english, 2018

13

AB022. *Genetic analysis of 11 Sudanese families with congenital hypothyroidism

Shareef, Reham, Watanabe, Yui, Creech, Matthew K., Bis, Dana M., Züchner, Stephan, Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.

Journal:

Pediatric Medicine

Year:

2018

Language:

english

File:

PDF, 93 KB

english, 2018

14

Quantifying drug tissue biodistribution by integrating high content screening with deep-learning analysis

Li, Zhuyin, Xiao, Youping, Peng, Jia, Locke, Darren, Holmes, Derek, Li, Lei, Hamilton, Shannon, Cook, Erica, Myer, Larnie, Vanderwall, Dana, Cloutier, Normand, Siddiqui, Akbar M., Whitehead, Paul, Bis

Journal:

Scientific Reports

Year:

2020

File:

PDF, 2.93 MB

2020

15

A network biology approach to unraveling inherited axonopathies

Bis-Brewer, Dana M., Danzi, Matt C., Wuchty, Stefan, Züchner, Stephan

Journal:

Scientific Reports

Year:

2019

File:

PDF, 2.29 MB

2019

16

Characterization of the Nocardiopsin Biosynthetic Gene Cluster Reveals Similarities to and Differences from the Rapamycin and FK-506 Pathways

Bis, Dana M., Ban, Yang H., James, Elle D., Alqahtani, Norah, Viswanathan, Rajesh, Lane, Amy L.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

17

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Bis-Brewer, Dana M., Züchner, Stephan

Journal:

Frontiers in Neurology

Year:

2018

Language:

english

File:

PDF, 764 KB

english, 2018

18

Large scale in silico characterization of repeat expansion variation in human genomes

Fazal, Sarah, Danzi, Matt C., Cintra, Vivian P., Bis-Brewer, Dana M., Dolzhenko, Egor, Eberle, Michael A., Zuchner, Stephan

Journal:

Scientific Data

Year:

2020

File:

PDF, 2.65 MB

2020

19

POLG mutations presenting as CMT

Phillips, Jade, Courel, Steve, Rebelo, Adriana P., Bis-Brewer, Dana M., Bardakjian, Tanya, Dankwa, Lois, Hamedani, Ali G., Züchner, Stephan, Scherer, Steven S.

Journal:

Journal of the Peripheral Nervous System

Year:

2019

Language:

english

File:

PDF, 1.26 MB

english, 2019

20

Genetic modifiers and non-Mendelian aspects of CMT

Bis-Brewer, Dana M., Fazal, Sarah, Züchner, Stephan

Journal:

Year:

2020

File:

PDF, 978 KB

2020

21

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laur

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 3.57 MB

english, 2016

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