Resultats de la cerca - Michael F. Wangler

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  1. 1
    In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

    In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em> per J. Michael Harnish, Samantha L. Deal, Hsiao‐Tuan Chao, Michael F. Wangler, Shinya Yamamoto

    Publicat 2019
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  2. 2
    Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

    Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients per Aimee S. Chang, Kelle H. Moley, Michael F. Wangler, Andrew P. Feinberg, Michael R. DeBaun

    Publicat 2005
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  3. 3
    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i>

    Missense variants in the middle domain of<i>DNM1L</i>in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in<i>Drosophila</i> per Yu-Hsin Chao, Laurie Robak, Fan Xia, Mary Kay Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler

    Publicat 2016
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  4. 4
    Racial disparity in the frequency of recurrence of preterm birth

    Racial disparity in the frequency of recurrence of preterm birth per Zachary A.-F. Kistka, Lisanne Palomar, Kirstin A. Lee, Sarah Boslaugh, Michael F. Wangler, F. Sessions Cole, Michael R. DeBaun, Louis J. Muglia

    Publicat 2007
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  5. 5
    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research per Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M. Boycott, Philippe M. Campeau, Hugo J. Bellen

    Publicat 2017
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  6. 6
    Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

    Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision per Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl, Stephen C. Pak, John H. Postlethwait, Jimann Shin, Lilianna Solnica‐Krezel, Hugo J. Bellen, Monte Westerfield

    Publicat 2021
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  7. 7
    Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

    Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines per Nancy Braverman, Gerald V. Raymond, William B. Rizzo, Ann B. Moser, Mark Wilkinson, Edwin M. Stone, Steven J. Steinberg, Michael F. Wangler, Eric T. Rush, Joseph G. Hacia, Mousumi Bose

    Publicat 2015
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  8. 8
    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum per Taraka Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa Emrick, Sarah H. Elsea

    Publicat 2016
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  9. 9
    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

    Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene per Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

    Publicat 2010
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  10. 10
    Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms

    Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms per Kai Li Tan, Nele A. Haelterman, Callie Kwartler, Ellen S. Regalado, Pei-Tseng Lee, Sonal Nagarkar-Jaiswal, Dongchuan Guo, Lita Duraine, Michael F. Wangler, Michael J. Bamshad, Deborah A. Nickerson, Guang Lin, Dianna M. Milewicz, Hugo J. Bellen

    Publicat 2018
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  11. 11
    The phenotypic spectrum of Xia‐Gibbs syndrome

    The phenotypic spectrum of Xia‐Gibbs syndrome per Yunyun Jiang, Michael F. Wangler, Amy L. McGuire, James R. Lupski, Jennifer E. Posey, Michael M. Khayat, David R. Murdock, Luis Sánchez‐Pulido, Chris P. Ponting, Fan Xia, Jill V. Hunter, Qingchang Meng, Mullai Murugan, Richard A. Gibbs

    Publicat 2018
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  12. 12
    A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

    A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers per Michael F. Wangler, Leroy Hubert, Taraka Donti, Meredith J. Ventura, Marcus J. Miller, Nancy Braverman, Kelly M. Gawron, Mousumi Bose, Ann B. Moser, Richard O. Jones, William B. Rizzo, V. Reid Sutton, Qin Sun, Adam D. Kennedy, Sarah H. Elsea

    Publicat 2018
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  13. 13
    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy per Hyunglok Chung, Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld, Lindsay C. Burrage, Pengfei Liu, David R. Murdock, Shinya Yamamoto, Michael F. Wangler, Hsiao‐Tuan Chao, Hongyu Long, Li Feng, Carlos A. Bacino, Hugo J. Bellen, Bo Xiao

    Publicat 2020
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  14. 14
    Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

    Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth per Jevon Plunkett, Mary F. Feitosa, Michelle Trusgnich, Michael F. Wangler, Lisanne Palomar, Zachary A.-F. Kistka, Emily DeFranco, Tammy Shen, Adrienne E.D. Stormo, Hilkka Puttonen, Mikko Hallman, Ritva Haataja, Aino Luukkonen, Vineta Fellman, Leena Peltonen, Aarno Palotie, E. Warwick Daw, Ping An, Kari Teramo, Ingrid B. Borecki, Louis J. Muglia

    Publicat 2009
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  15. 15
    Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

    Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome per Danny Halim, Erwin Brosens, Françoise Müller, Michael F. Wangler, Arthur L. Beaudet, James R. Lupski, Zeynep H. Coban Akdemir, Michael Doukas, Hans Stoop, Bianca M. de Graaf, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Jean‐François Oury, Jonathan Rosenblatt, Alan J. Burns, Dick Tibboel, Robert M.W. Hofstra, Maria M. Alves

    Publicat 2017
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  16. 16
    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders per Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti, S. Kim, Lucian Li, Jill A. Rosenfeld, Linyan Meng, Lindsay C. Burrage, Michael F. Wangler, Shinya Yamamoto, Martha Guadalupe Zárate Santana, Victor L. Perez, Priyank Shukla, Christine M. Eng, Brendan Lee, Bo Yuan, Fan Xia, Hugo J. Bellen, Pengfei Liu, Zhandong Liu

    Publicat 2024
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  17. 17
    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially per Xi Luo, Jill A. Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J. Wierenga, Matthew Pastore, Dennis Bartholomew, Mauricio R. Delgado, Joshua Rotenberg, Richard A. Lewis, Lisa Emrick, Carlos A. Bacino, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Fan Xia, Yaping Yang, Seema R. Lalani, Timothy Lotze, James R. Lupski, Brendan Lee, Hugo J. Bellen, Michael F. Wangler

    Publicat 2017
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  18. 18
    Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

    Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome per Michael F. Wangler, Claudia Gonzaga‐Jauregui, Tomasz Gambin, Samantha Penney, Timothy J. M. Moss, Atul R. Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven L. Werlin, Ieva Eglite, Liene Korņejeva, Carlos A. Bacino, Dustin Baldridge, Jeffrey L. Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski, Arthur L. Beaudet

    Publicat 2014
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  19. 19
    Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

    Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration per Wan Hee Yoon, Héctor Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Nele A. Haelterman, Nagireddy Putluri, Vasanta Putluri, Arun Sreekumar, Tülay Tos, Ayşe Aksoy, Taraka Donti, Brett H. Graham, Mikiko Ohno, Eiichiro Nishi, Jill V. Hunter, Donna M. Muzny, Jason Carmichael, Joseph Shen, Valerie A. Arboleda, Stanley F. Nelson, Michael F. Wangler, Ender Karaca, James R. Lupski, Hugo J. Bellen

    Publicat 2016
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  20. 20
    A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

    A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins per Annabel Guichard, Shenzhao Lu, Oguz Kanca, Daniel Bressan, Yan Huang, Mengqi Ma, Sara Sanz Juste, Jonathan C. Andrews, Kristy L. Jay, Marketta Sneider, Ruth Schwartz, Mei‐Chu Huang, Danqing Bei, Hongling Pan, Liwen Ma, Wen‐Wen Lin, Ankush Auradkar, Pranjali Bhagwat, Soohyung Park, Kenneth H. Wan, Takashi Ohsako, Toshiyuki Takano‐Shimizu, S Celniker, Michael F. Wangler, Shinya Yamamoto, Hugo J. Bellen, Ethan Bier

    Publicat 2023
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