Canlyniadau Chwilio - Lynne A. Wolfe

Mireinio'r Canlyniadau
  1. 1
    Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

    Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors gan Bobby G. Ng, Lynne A. Wolfe, Mie Ichikawa, Thomas C. Markello, Miao He, Cynthia J. Tifft, W. A. Gahl, Hudson H. Freeze

    Cyhoeddwyd 2015
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  2. 2
    A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1

    A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1 gan Eric Delpire, Lynne A. Wolfe, Bianca Flores, Rainelli Koumangoye, Cara C. Schornak, Salma Omer, Barbara N. Pusey, Christopher Lau, Thomas C. Markello, David R. Adams

    Cyhoeddwyd 2016
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  3. 3
    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

    Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... gan Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Döederlein Schwartz, Éva Morava

    Cyhoeddwyd 2021
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  4. 4
    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells gan Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, Jiro Kato, Hiroko Ishiwata-Endo, Linda A. Stevens, Atsushi Kasamatsu, Lynne A. Wolfe, Camilo Toro, David R. Adams, Thomas C. Markello, William A. Gahl, Joel Moss

    Cyhoeddwyd 2019
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  5. 5
    Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

    Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay gan Miao He, Lisa E. Kratz, Joshua J. Michel, Abbe N. Vallejo, Laura K. Ferris, Richard I. Kelley, Jacqueline J. Hoover, D.M. Jukic, K. Michael Gibson, Lynne A. Wolfe, Dhanya Ramachandran, Michael E. Zwick, Jerry Vockley

    Cyhoeddwyd 2011
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  6. 6
    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience gan Lauren Lawrence, Murat Sincan, Thomas C. Markello, David R. Adams, Fred A. Gill, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Colleen E. Wahl, Lynne A. Wolfe, William A. Gahl, Cornelius F. Boerkoel

    Cyhoeddwyd 2014
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  7. 7
    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia

    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia gan Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G. Bönnemann, Martin G. Bialer, Christine Moore, Lynne A. Wolfe, Cynthia J. Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K. Chung

    Cyhoeddwyd 2016
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  8. 8
    A recurrent de novo missense mutation in UBTF causes developmental neuroregression

    A recurrent de novo missense mutation in UBTF causes developmental neuroregression gan Camilo Toro, Roderick Hori, May Christine V. Malicdan, Cynthia J. Tifft, Amy Goldstein, William A. Gahl, David R. Adams, Harper B Fauni, Lynne A. Wolfe, Jianfeng Xiao, Mohammad Moshahid Khan, Jun Tian, Kevin A. Hope, Lawrence T. Reiter, Michel G. Tremblay, Tom Moss, Alexis L. Franks, Chris Balak, Mark S. LeDoux

    Cyhoeddwyd 2017
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  9. 9
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society gan Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andrea Gropman, Richard Haas, Michio Hirano, Philip G. Morgan, Katherine B. Sims, Mark A. Tarnopolsky, Johan L.K. Van Hove, Lynne A. Wolfe, Salvatore DiMauro

    Cyhoeddwyd 2014
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  10. 10
    Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

    Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment gan Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner

    Cyhoeddwyd 2014
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  11. 11
    The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

    The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases gan William A. Gahl, Thomas C. Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Fred A. Gill, Hannah Carlson-Donohoe, Andrea Gropman, Tyler Mark Pierson, Gretchen Golas, Lynne A. Wolfe, Catherine Groden, Rena A. Godfrey, Michele Nehrebecky, Colleen E. Wahl, Dennis M.D. Landis, Sandra Yang, Anne C. Madeo, James C. Mullikin, Cornelius F. Boerkoel, Cynthia J. Tifft, David R. Adams

    Cyhoeddwyd 2012
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  12. 12
    Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

    Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation gan Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich, Camilo Toro, Lea Latham, Wadih M. Zein, Tanya Lehky, Carmen C. Brewer, Eva H. Baker, Audrey Thurm, Cristan Farmer, Sergio D. Rosenzweig, Jonathan J. Lyons, John M. Schreiber, Andrea Gropman, Shilpa Lingala, Marc G. Ghany, Beth Solomon, Ellen F. Macnamara, Mariska Davids, Constantine A. Stratakis, Virginia Kimonis, William A. Gahl, Lynne A. Wolfe

    Cyhoeddwyd 2016
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  13. 13
    Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

    Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity gan David R. Adams, Hongjie Yuan, Todd Holyoak, Katrina H. Arajs, Parvin Hakimi, Thomas C. Markello, Lynne A. Wolfe, Thierry Vilboux, Barbara K. Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C. M. Smith, G.A. Wells, Yan Huang, Hugo Vega, James P. Snyder, Gretchen Golas, Cynthia J. Tifft, Cornelius F. Boerkoel, Richard W. Hanson, Stephen F. Traynelis, Douglas S. Kerr, William A. Gahl

    Cyhoeddwyd 2014
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  14. 14
    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

    Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors gan Christina Lam, Gretchen Golas, Mariska Davids, Marjan Huizing, Megan Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih M. Zein, Andrea Gropman, Maya Lodish, Constantine A. Stratakis, Irina Marić, Sergio D. Rosenzweig, Eva H. Baker, Carlos R. Ferreira, Noelle R. Danylchuk, Stephen G. Kahler, Adolfo D. Garnica, G. Bradley Schaefer, Cornelius F. Boerkoel, William A. Gahl, Lynne A. Wolfe

    Cyhoeddwyd 2015
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  15. 15
    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

    Nutritional interventions in primary mitochondrial disorders: Developing an evidence base gan Kathryn Camp, Danuta Krotoski, Melissa A. Parisi, Katrina Gwinn, Bruce H. Cohen, Christine Cox, Gregory M. Enns, Marni J. Falk, Amy Goldstein, Rashmi Gopal-Srivastava, Gráinne S. Gorman, Stephen P. Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin MacLeod, Robert McFarland, Charles Mohan, Andrew E. Mulberg, Joanne Odenkirchen, Sumit Parikh, Patricia J. Rutherford, Shawne K. Suggs-Anderson, W.H. Wilson Tang, Jerry Vockley, Lynne A. Wolfe, Steven Yannicelli, Philip E. Yeske, Paul M. Coates

    Cyhoeddwyd 2016
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  16. 16
    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy gan Amanda Kahn-Kirby, Akiko Amagata, Céline I. Maeder, Janet J. Mei, Steve Sideris, Yuko Kosaka, A. Scott Hinman, Stephanie Malone, Joel Bruegger, Leslie Wang, Virna Kim, William D. Shrader, Kevin G. Hoff, Joey C. Latham, Euan A. Ashley, Matthew T. Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi‐Vici, Kimberly A. Chapman, Gregory M. Enns, William A. Gahl, Lynne A. Wolfe, Russell P. Saneto, Simon C. Johnson, Jeffrey K. Trimmer, Matthew B. Klein, Charles R. Holst

    Cyhoeddwyd 2019
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  17. 17
    Defining the clinical phenotype of Saul–Wilson syndrome

    Defining the clinical phenotype of Saul–Wilson syndrome gan Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte G. Haug, Luis Rohena, Hanne Hove, Zhi‐Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn Earl, Emma Tham, Gen Nishimura, John A. Phillips, William A. Gahl, Rizwan Hamid, Andrew P. Jackson, Giedre Grigelioniené, Michael B. Bober

    Cyhoeddwyd 2020
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  18. 18
    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability gan Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher M. Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Joanna Poulton, Héctor García‐Moreno, Paola Giunti, Carlos Alberto de Moura Aschoff, Jonas Alex Morales Saute, Amelia Jeanne Kirby, Camilo Toro, Lynne A. Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S. Gorman, Andrew M. Schaefer, Claes M. Gustafsson, Robert W. Taylor, Maria Falkenberg, Thomas J. Nicholls

    Cyhoeddwyd 2023
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  19. 19
    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency gan William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David D. Draper, Elise D. Flynn, Marta Gîrdea, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Julius O.B. Jacobsen, Sebastian Köhler, Elizabeth M.J. Lee, Amanda E. Links, Thomas C. Markello, Chris Mungall, Michele Nehrebecky, Peter N. Robinson, Murat Sincan, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Heather Trang, Elise Valkanas, Nicole Vasilevsky, Colleen E. Wahl, Lynne A. Wolfe, Cornelius F. Boerkoel, Michael Brudno, Melissa Haendel, William A. Gahl, Damian Smedley

    Cyhoeddwyd 2015
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  20. 20
    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features gan Mari Tokita, Chun‐An Chen, David Chitayat, Ellen F. Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne A. Wolfe, Colleen E. Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson‐Kahn, Shirley Shuster, Pilar Magoulas, Vipulkumar Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan Lee, Christian P. Schaaf, Yaping Yang, Xia Wang

    Cyhoeddwyd 2018
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