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Recent publications from MSeqDR supported by the UMDF and NIH grants
July 2, 2020 Dr. Lishuang SHEN 0
Contents
Recent publications from MSeqDR supported by:
1. UMDF – The United Mitochondrial Disease Foundation
2. The U24 Project 1U24HD093483-01: Expert curation of pediatric mitochondrial Leigh-like Syndrome genes and Variants
3. The U54 Project #5U54NS078059-06 NAMDC: Overall Research Plan
Title (Link to full-text in PubMed Central) Journal (Link to PubMed abstract) Authors Similar Publications Cited By Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clinics in laboratory medicine. 2020 Jun; 40 (2) :149-161 Shen, Lishuang; McCormick, Elizabeth M; Muraresku, Colleen Clarke; Falk, Marni J; Gai, Xiaowu 
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human Mutation First published: 09 September 2020 https://doi.org/10.1002/humu.24107 Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Lishuang Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel E. Pineda‐ Alvarez, Larry N. Singh, Christine M. Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C. Wallace, Xiaowu Gai, Marni J. Falk Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels. Genome medicine. 2019 11 29; 11 (1) :77 Kanavy, Dona M; McNulty, Shannon M; Jairath, Meera K; Brnich, Sarah E; Bizon, Chris; Powell, Bradford C; Berg, Jonathan S Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer research. 2019 04 01; 79 (7) :1318-1330 Triska, Petr; Kaneva, Kristiyana; Merkurjev, Daria; Sohail, Noor; Falk, Marni J; Triche Jr, Timothy J; Biegel, Jaclyn A; Gai, Xiaowu Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background. Genetics in medicine : official journal of the American College of Medical Genetics. 2019 03; 21 (3) :727-735 Ormond, Kelly E; Hallquist, Miranda L G; Buchanan, Adam H; Dondanville, Danielle; Cho, Mildred K; Smith, Maureen; Roche, Myra; Brothers, Kyle B; Coughlin 2nd, Curtis R; Hercher, Laura; Hudgins, Louanne; Jamal, Seema; Levy, Howard P; Raskin, Misha; Stosic, Melissa; Uhlmann, Wendy; Wain, Karen E; Currey, Erin; Faucett, W Andrew MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Human mutation. 2019 05; 40 (5) :499-515 Ganetzky, Rebecca D; Stendel, Claudia; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C; Klopstock, Thomas; Falk, Marni J Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PloS one. 2019; 14 (9) :e0221829 Gustafson, Margaret A; McCormick, Elizabeth M; Perera, Lalith; Longley, Matthew J; Bai, Renkui; Kong, Jianping; Dulik, Matthew; Shen, Lishuang; Goldstein, Amy C; McCormack, Shana E; Laskin, Benjamin L; Leroy, Bart P; Ortiz-Gonzalez, Xilma R; Ellington, Meredith G; Copeland, William C; Falk, Marni J Mitochondrial Genomics: A complex field now coming of age. Current genetic medicine reports. 2018 Jun; 6 (2) :52-61 McCormick, Elizabeth M; Muraresku, Colleen C; Falk, Marni J Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies. Current genetic medicine reports. 2018 Jun; 6 (2) :62-72 Muraresku, Colleen C; McCormick, Elizabeth M; Falk, Marni J MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Human mutation. 2018 06; 39 (6) :806-810 Shen, Lishuang; Attimonelli, Marcella; Bai, Renkui; Lott, Marie T; Wallace, Douglas C; Falk, Marni J; Gai, Xiaowu Mitochondrial disease patient motivations and barriers to participate in clinical trials. PloS one. 2018; 13 (5) :e0197513 Zolkipli-Cunningham, Zarazuela; Xiao, Rui; Stoddart, Amy; McCormick, Elizabeth M; Holberts, Amy; Burrill, Natalie; McCormack, Shana; Williams, Lauren; Wang, Xiaoyan; Thompson, John L P; Falk, Marni J Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Current opinion in pediatrics. 2018 12; 30 (6) :714-724 McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Falk, Marni J Title (Link to full-text in PubMed Central) Journal (Link to PubMed abstract) Authors Similar Publications Cited By MSeqDR: a centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease Human Mutation 2016 Jun;37(6):540-548.
doi: 10.1002/humu.22974Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro‐Gomez, Jeremy Leipzig, Marie T Lott, Mannis van Oven, Douglas C Wallace, Colleen Clarke Muraresku, Zarazuela Zolkipli‐Cunningham, Patrick F Chinnery, Marcella Attimonelli, Stephan Zuchner, Marni J Falk, Xiaowu Gai Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … Molecular genetics and metabolism 2015. 114 (3), 388-396Marni J Falk, Lishuang Shen, Michael Gonzalez, Jeremy Leipzig, Marie T Lott, Alphons PM Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip Yeske, Renkui Bai, Richard G Boles, Virginia Brilhante, David Ralph, Jeana T DaRe, Robert Shelton, Sharon F Terry, Zhe Zhang, William C Copeland, Mannis van Oven, Holger Prokisch, Douglas C Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Zuchner, Xiaowu Gai, Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church, Rosanna Clima, Bruce H Cohen, Richard G Cotton, IFM de Coo, Olga Derbenevoa, Johan T den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre, Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K Mootha, Yasushi Okazaki, Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe, Claire Sheldon, Eric A Shoubridge, Domenico Simone, Bert Smeets, Jan A Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R Thorburn, Johan Van Hove, Lynne Wolfe, Lee-Jun Wong Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier Bioinformatics 2015. 31 (8), 1310-1312Daniel Navarro-Gomez, Jeremy Leipzig, Lishuang Shen, Marie Lott, Alphons PM Stassen, Douglas C Wallace, Janey L Wiggs, Marni J Falk, Mannis van Oven, Xiaowu Gai HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor Nucleic acids research 2017. 45 (D1), D698-D706 Rosanna Clima, Roberto Preste, Claudia Calabrese, Maria Angela Diroma, Mariangela Santorsola, Gaetano Scioscia, Domenico Simone, Lishuang Shen, Giuseppe Gasparre, Marcella Attimonelli MSeqDR; Mitochondrial Disease Sequence Data Resource; DOI: https://doi.org/10.25504/FAIRsharing.xUkfh7; Last edited: Feb. 13, 2020 FAIRsharing – A curated, informative and educational resource on data and metadata standards, inter-related to databases and data policies 2019 Lishuang Shen, Marni J Falk, Xiaowu Gai ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people