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1.

Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.

Jackson, Suellen; Freeman, Rebecca; Noronha, Adriana; Jamil, Hafsah; Chavez, Eric; Carmichael, Jason; Ruiz, Kaylee M; Miller, Christine; Benke, Sarah; Perrot, Rosalie; Hockley, Maryam; Murphy, Kady; Casillan, Aimiel; Radanovich, Lily; Deforest, Roger; Nunes, Mark E; Galarreta-Aima, Carolina; Sidlow, Richard; Einhorn, Yaron; Woods, Jeremy.

Am J Med Genet A; 194(5): e63505, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38168469

2.

Next generation phenotyping with quantitative narration for DEGCAGS syndrome.

Freeman, Rebecca; Noronha, Adriana; Woods, Jeremy.

Am J Med Genet A; 191(4): 1020-1025, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36607994

3.

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Tise, Christina G; Verscaj, Courtney P; Mendelsohn, Bryce A; Woods, Jeremy; Lee, Chung U; Enns, Gregory M; Stander, Zinandré; Hall, Patricia L; Cowan, Tina M; Cusmano-Ozog, Kristina P.

Am J Med Genet A; 191(6): 1492-1501, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-36883293

4.

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

Galarreta, Carolina I; Wong, Karen; Carmichael, Jason; Woods, Jeremy; Tise, Christina G; Niehaus, Annie D; Schildt, Alison J; Verscaj, Courtney P; Cusmano-Ozog, Kristina P.

Am J Med Genet A; 191(8): 2057-2063, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37144748

5.

Technoeconomic and life-cycle analysis of single-step catalytic conversion of wet ethanol into fungible fuel blendstocks.

Hannon, John R; Lynd, Lee R; Andrade, Onofre; Benavides, Pahola Thathiana; Beckham, Gregg T; Biddy, Mary J; Brown, Nathan; Chagas, Mateus F; Davison, Brian H; Foust, Thomas; Junqueira, Tassia L; Laser, Mark S; Li, Zhenglong; Richard, Tom; Tao, Ling; Tuskan, Gerald A; Wang, Michael; Woods, Jeremy; Wyman, Charles E.

Proc Natl Acad Sci U S A; 117(23): 12576-12583, 2020 06 09.

Artículo en Inglés | MEDLINE | ID: mdl-31767762

6.

Life cycle assessment (LCA): informing the development of a sustainable circular bioeconomy?

Sevigné-Itoiz, Eva; Mwabonje, Onesmus; Panoutsou, Calliope; Woods, Jeremy.

Philos Trans A Math Phys Eng Sci; 379(2206): 20200352, 2021 Sep 20.

Artículo en Inglés | MEDLINE | ID: mdl-34334023

7.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee, Hane; Huang, Alden Y; Wang, Lee-Kai; Yoon, Amanda J; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D; Woods, Jeremy D; Dell'Angelica, Esteban C; Fogel, Brent L; Martin, Martin G; Butte, Manish J; Parker, Neil H; Wang, Richard T; Shieh, Perry B; Wong, Derek A; Gallant, Natalie; Singh, Kathryn E; Tavyev Asher, Y Jane; Sinsheimer, Janet S; Krakow, Deborah; Loo, Sandra K; Allard, Patrick; Papp, Jeanette C; Palmer, Christina G S; Martinez-Agosto, Julian A; Nelson, Stanley F.

Genet Med; 22(3): 490-499, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31607746

8.

A well-tolerated core needle muscle biopsy process suitable for children and adults.

Barthelemy, Florian; Woods, Jeremy D; Nieves-Rodriguez, Shirley; Douine, Emilie D; Wang, Richard; Wanagat, Jonathan; Miceli, M Carrie; Nelson, Stanley F.

Muscle Nerve; 62(6): 688-698, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32820569

9.

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Woods, Jeremy D; Khanlou, Negar; Lee, Hane; Signer, Rebecca; Shieh, Perry; Chen, Johnathan; Herzog, Matthew; Palmer, Christina; Martinez-Agosto, Julian; Nelson, Stanley F.

Neuropathology; 40(3): 302-307, 2020 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-32037607

10.

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

Woods, Jeremy D; Payton, Kurlen S E; Sanchez-Lara, Pedro A; Au, Margaret; Simmons, Charles F; Graham, John M.

J Pediatr; 211: 207-210, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31079856

11.

An integrated framework for optimal infrastructure planning for decarbonising heating.

Hoseinpoori, Pooya; Woods, Jeremy; Shah, Nilay.

MethodsX; 10: 102184, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37168775

12.

Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings.

Leong, Matthew; Sathi, Bindu; Davis, Amy; Hamid, Syed; Wu, Sandy; Woods, Jeremy; Kharbanda, Sandhya; Li, Xiaomo; Hou, Jean.

J Pediatr Endocrinol Metab; 36(12): 1186-1190, 2023 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-37979187

13.

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.

Nieves-Rodriguez, Shirley; Barthélémy, Florian; Woods, Jeremy D; Douine, Emilie D; Wang, Richard T; Scripture-Adams, Deirdre D; Chesmore, Kevin N; Galasso, Francesca; Miceli, M Carrie; Nelson, Stanley F.

Front Genet; 14: 1216066, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37576554

14.

Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy.

Mendell, Jerry R; Shieh, Perry B; McDonald, Craig M; Sahenk, Zarife; Lehman, Kelly J; Lowes, Linda P; Reash, Natalie F; Iammarino, Megan A; Alfano, Lindsay N; Sabo, Brenna; Woods, Jeremy D; Skura, Christy L; Mao, Howard C; Staudt, Loretta A; Griffin, Danielle A; Lewis, Sarah; Wang, Shufang; Potter, Rachael A; Singh, Teji; Rodino-Klapac, Louise R.

Front Cell Dev Biol; 11: 1167762, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37497476

15.

Perspective: A new hope for Africa.

Lynd, Lee R; Woods, Jeremy.

Nature; 474(7352): S20-1, 2011 Jun 22.

Artículo en Inglés | MEDLINE | ID: mdl-21697839

16.

The use of system dynamics for energy and environmental education.

Strapasson, Alexandre; Ferreira, Marcello; Cruz-Cano, Diego; Woods, Jeremy; do Nascimento Maia Soares, Marco Paulo; da Silva Filho, Olavo Leopoldino.

Int J Educ Technol High Educ; 19(1): 5, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-35106364

17.

Accompanying effects of sewage sludge and pine needle biochar with selected organic additives on the soil and plant variables.

Fatima, Bushra; Bibi, Farhana; Ishtiaq Ali, Muhammad; Woods, Jeremy; Ahmad, Mushtaq; Mubashir, Muhammad; Shariq Khan, Mohd; Bokhari, Awais; Khoo, Kuan Shiong.

Waste Manag; 153: 197-208, 2022 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-36108538

18.

A hybrid approach to identifying and assessing interactions between climate action (SDG13) policies and a range of SDGs in a UK context.

Stevenson, Samuel; Collins, Alexandra; Jennings, Neil; Koberle, Alexandre; Laumann, Felix; Laverty, Anthony A; Vineis, Paolo; Woods, Jeremy; Gambhir, Ajay.

Discov Sustain; 2(1): 43, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-35425918

19.

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.

Woods, Jeremy; Cederbaum, Stephen.

Mol Genet Metab Rep; 21: 100517, 2019 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31641589

20.

Policies for accelerating access to clean energy, improving health, advancing development, and mitigating climate change.

Haines, Andy; Smith, Kirk R; Anderson, Dennis; Epstein, Paul R; McMichael, Anthony J; Roberts, Ian; Wilkinson, Paul; Woodcock, James; Woods, Jeremy.

Lancet; 370(9594): 1264-81, 2007 Oct 06.

Artículo en Inglés | MEDLINE | ID: mdl-17868819

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