Megan L. Landsverk: search on Z-Library

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1

Clinical and Laboratory Interpretation of Mitochondrial mRNA Variants

Wong, LeeâJun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Tang, Sha, Landsverk, Megan, Li, Fangyuan, Zhang, Shulin, Wang, Yue, Zhang, Victor Wei, Craigen, William J.

Journal:

Year:

2020

File:

PDF, 588 KB

2020

2

A novel mitochondrial tRNA lysine variant, m.8358A>G, associated with exercise intolerance, muscle weakness, and fatigue

Megan Landsverk⁎, Jing Wang, Daniel Boué, Zarife Sahenk, Eric Schmitt, Lee-Jun Wong

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

3

Benign or pathogenic: Using computer based algorithms for POLG mutation prediction

Jing Wang⁎, Li Chieh Chen, Megan Landsverk, Eric S. Schmitt, Lee-Jun Wong

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

4

Molecular confirmation of VLCAD deficiencies in newborns

Megan Landsverk⁎, Fernando Scaglia, Lee-Jun Wong

Journal:

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

5

First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era

Sha Tang, Jing Wang, Fangyuan Li, Victor Wei Zhang, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Eric S. Schmitt, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

6

Lessons learned from the analyses of 1500 mitochondrial genomes by NGS

Zhang, Victor Wei, Li, Fangyuan, Wang, Guoli, Truong, Cavatina K., Yu, Hui, Chen, David, Cui, Hong, Tian, Xia, Wang, Hao, Landsverk, Megan, Wang, Jing, Wong, Lee-Jun

Journal:

Year:

2013

Language:

english

File:

PDF, 65 KB

english, 2013

7

Clinical delineation of the PACS1 -related syndrome-Report on 19 patients

Schuurs-Hoeijmakers, Janneke H. M., Landsverk, Megan L., Foulds, Nicola, Kukolich, Mary K., Gavrilova, Ralitza H., Greville-Heygate, Stephanie, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Glass, Jenn

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 475 KB

english, 2016

8

Correction: Interpretation of mitochondrial tRNA variants

Wong, Lee-Jun C., Chen, Ting, Wang, Jing, Tang, Sha, Schmitt, Eric S., Landsverk, Megan, Li, Fangyuan, Wang, Yue, Zhang, Shulin, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 180 KB

2020

9

Correction: Interpretation of mitochondrial tRNA variants

Wong, Lee-Jun C., Chen, Ting, Wang, Jing, Tang, Sha, Schmitt, Eric S., Landsverk, Megan, Li, Fangyuan, Wang, Yue, Zhang, Shulin, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 196 KB

2020

10

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation

Gary Fruhman, Megan L. Landsverk, Timothy E. Lotze, Jill V. Hunter, Michael F. Wangler, Adekunle M. Adesina, Lee-Jun C. Wong, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 2.00 MB

english, 2011

11

Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders

Megan L. Landsverk, Jing Wang, Eric S. Schmitt, Amber N. Pursley, Lee-Jun C. Wong

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 832 KB

english, 2011

12

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Cui, Hong, Li, Fangyuan, Chen, David, Wang, Guoli, Truong, Cavatina K., Enns, Gregory M., Graham, Brett, Milone, Margherita, Landsverk, Megan L., Wang, Jing, Zhang, Wei, Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

13

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience

Wang, Jing, Schmitt, Eric S., Landsverk, Megan L., Zhang, Victor Wei, Li, Fang-Yuan, Graham, Brett H., Craigen, William J., Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 626 KB

english, 2012

14

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Tang, Sha, Wang, Jing, Zhang, Victor Wei, Li, Fang-Yuan, Landsverk, Megan, Cui, Hong, Truong, Cavatina K., Wang, Guoli, Chen, Li Chieh, Graham, Brett, Scaglia, Fernando, Schmitt, Eric S., Craigen, Wil

Journal:

Year:

2013

Language:

english

File:

PDF, 2.25 MB

english, 2013

15

Diagnostic approaches to apparent homozygosity

Landsverk, Megan L., Douglas, Ganka V., Tang, Sha, Zhang, Victor W., Wang, Guo-Li, Wang, Jing, Wong, Lee-Jun C.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 285 KB

english, 2012

16

UNC-98 Links an Integrin-Associated Complex to Thick Filaments in Caenorhabditis elegans Muscle

Rachel K. Miller, Hiroshi Qadota, Megan L. Landsverk, Kristina B. Mercer, Henry F. Epstein and Guy M. Benian

Journal:

The Journal of Cell Biology

Year:

2006

Language:

english

File:

PDF, 1.41 MB

english, 2006

17

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 655 KB

english, 2014

18

The UNC-45 Chaperone Mediates Sarcomere Assembly through Myosin Degradation in Caenorhabditis elegans

Megan L. Landsverk, Shumin Li, Alex H. Hutagalung, Ayaz Najafov, Thorsten Hoppe, José M. Barral and Henry F. Epstein

Journal:

The Journal of Cell Biology

Year:

2007

Language:

english

File:

PDF, 1.32 MB

english, 2007

19

Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle

Milone, Margherita, Klassen, Bryan T., Landsverk, Megan L., Haas, Richard H., Wong, Lee-Jun

Journal:

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

20

The UNC-45 chaperone mediates sarcomere assembly through myosin degradation in Caenorhabditis elegans

Landsverk, Megan L., Li, Shumin, Hutagalung, Alex H., Najafov, Ayaz, Hoppe, Thorsten, Barral, José M., Epstein, Henry F.

Journal:

The Journal of Cell Biology

Year:

2007

Language:

english

File:

PDF, 1.50 MB

english, 2007

21

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome

Cain, Jacob T., Kim, Dae I., Quast, Megan, Shivega, Winnie G., Patrick, Ryan J., Moser, Chuanpit, Reuter, Suzanne, Perez, Myrza, Myers, Angela, Weimer, Jill M., Roux, Kyle J., Landsverk, Megan

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 780 KB

english, 2017

22

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Johnson, Tyler B., Mechels, Keegan, Anderson, Ruth Ellen, Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.37 MB

english, 2018

23

Interpretation of mitochondrial tRNA variants

Wong, Lee-Jun C., Chen, Ting, Wang, Jing, Tang, Sha, Schmitt, Eric S., Landsverk, Megan, Li, Fangyuan, Wang, Yue, Zhang, Shulin, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 396 KB

2020

24

Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Johnson, Tyler B., Mechels, Keegan, Anderson, Ruthellen H., Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.

Journal:

Scientific Reports

Year:

2020

File:

PDF, 619 KB

2020

25

Response to Bai et al.

Wong, Lee-Jun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Zhang, Shulin, Landsverk, Megan, Li, Fangyuan, Tang, Sha, Wang, Yue, Zhang, Victor Wei, Craigen, William J.

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 244 KB

2020