M. Landsverk

发表

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Requirement of Inositol 1,4,5-Trisphosphate Receptors for Tumor-mediated Lymphocyte Apoptosis*

J. Barral, D. Boehning, M. Landsverk, 2008, Journal of Biological Chemistry.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

S. Mane, K. Bilguvar, Sabrina C Burn, 2015, Tremor and other hyperkinetic movements.

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

W. Craigen, A. El-Hattab, B. Sadikovic, 2010, PloS one.

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

C. Gau, Negar M Ghahramani, H. LaDuca, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

J. Rosenfeld, S. Wells, S. Mane, 2016, American journal of human genetics.

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

M. Milone, B. Klassen, R. Haas, 2013, JAMA neurology.

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

Li Chieh Chen, W. Craigen, B. Graham, 2013, Human mutation.

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

Michael F. Wangler, J. Hunter, M. Wangler, 2011, Molecular genetics and metabolism.

Interpretation of mitochondrial tRNA variants

W. Craigen, L. Wong, Jing Wang, 2020, Genetics in Medicine.

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

The UCS family of myosin chaperones

M. Landsverk, H. F. Epstein, A. Hutagalung, 2002, Journal of Cell Science.

Clinical Molecular Diagnostic Techniques: A Brief Review

L. Wong, M. Landsverk, 2013 .

Algorithms and Guidelines for Interpretation of DNA Variants

Jing Wang, M. Landsverk, 2013 .

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Ubiquilin-1 Is a Molecular Chaperone for the Amyloid Precursor Protein*

A. Oberhauser, Yao Xiao, Efraín Siller, 2011, The Journal of Biological Chemistry.

UNC-98 links an integrin-associated complex to thick filaments in Caenorhabditis elegans muscle

H. Qadota, G. Benian, M. Landsverk, 2006, The Journal of cell biology.

Delivering Precision Oncology in a Community Cancer Program: Results From a Prospective Observational Study.

P. Thompson, M. Mazurczak, S. Powell, 2018, JCO precision oncology.

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

Tyler B. Johnson, Ruthellen H. Anderson, K. Roux, 2018, Scientific Reports.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

H. Mefford, E. Eichler, K. Buysse, 2009, Journal of Medical Genetics.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

J. Buchan, A. Brice, T. Bird, 2009, Neurology.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

J. Rosenfeld, S. Lalani, Yaping Yang, 2019, Neurology: Genetics.

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

L. Wong, Jing Wang, A. Pursley, 2011, Molecular genetics and metabolism.

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

Wei Zhang, Guoli Wang, Gregory M. Enns, 2013, Genetics in Medicine.

Diagnostic approaches to apparent homozygosity

L. Wong, Jing Wang, Sha Tang, 2012, Genetics in Medicine.

Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions

J. Barral, M. Landsverk, H. F. Epstein, 2002, Journal of Cell Science.

Molecular Diagnostic Techniques : A Brief Review

L. Wong, M. Landsverk, 2017 .

Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders.

M. Landsverk, M. Cornwell, Meagan E. Palculict, 2012, Methods in molecular biology.

Clinical and laboratory interpretation of mitochondrial mRNA variants

W. Craigen, L. Wong, Jing Wang, 2020, Human mutation.

Interpretation of mitochondrial tRNA variants

W. Craigen, L. Wong, Jing Wang, 2020, Genetics in Medicine.

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

T. Hoppe, J. Barral, M. Landsverk, 2007, The Journal of cell biology.

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

K. Roux, D. Kim, M. Landsverk, 2017, American journal of medical genetics. Part A.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

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

H. Andersson, L. Wong, M. Landsverk, 2014, Molecular genetics and metabolism reports.

Alternative Splicing of sept9a and sept9b in Zebrafish Produces Multiple mRNA Transcripts Expressed Throughout Development

M. Hannibal, D. Kimelman, Douglas C. Weiser, 2010, PloS one.

Novel variants identified in CKAP2L in two siblings with Filippi syndrome

M. Landsverk, J. Weimer, Ryan J. Patrick, 2021, Cold Spring Harbor molecular case studies.

Genetic analysis of myosin II assembly and organization in model organisms

M. Landsverk, H. F. Epstein, 2005, Cellular and Molecular Life Sciences CMLS.

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

W. Craigen, B. Graham, L. Wong, 2012, Genetics in Medicine.

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

L. Wong, Jing Wang, A. Pursley, 2011, Molecular genetics and metabolism.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Marni J. Falk, J. Rosenfeld, S. Wells, 2016, American journal of human genetics.