Torthaí cuardaigh - Adam Chamberlin

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  1. 1
    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome de réir Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman

    Foilsithe / Cruthaithe 2022
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  2. 2
    Hydrophobic plug functions as a gate in voltage-gated proton channels

    Hydrophobic plug functions as a gate in voltage-gated proton channels de réir Adam Chamberlin, Feng Qiu, Santiago Rebolledo, Yibo Wang, Sergei Y. Noskov, H. Peter Larsson

    Foilsithe / Cruthaithe 2013
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  3. 3
    Current state of theoretical and experimental studies of the voltage-dependent anion channel (VDAC)

    Current state of theoretical and experimental studies of the voltage-dependent anion channel (VDAC) de réir Sergei Y. Noskov, Tatiana K. Rostovtseva, Adam Chamberlin, Oscar Teijido, Wei Jiang, Sergey M. Bezrukov

    Foilsithe / Cruthaithe 2016
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  4. 4
    Acidification Asymmetrically Affects Voltage-dependent Anion Channel Implicating the Involvement of Salt Bridges

    Acidification Asymmetrically Affects Voltage-dependent Anion Channel Implicating the Involvement of Salt Bridges de réir Oscar Teijido, Shay M. Rappaport, Adam Chamberlin, Sergei Y. Noskov, Vicente M. Aguilella, Tatiana K. Rostovtseva, Sergey M. Bezrukov

    Foilsithe / Cruthaithe 2014
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  5. 5
    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes de réir Tina Pesaran, Rachid Karam, Robert Huether, S. Li, Suzette Farber-Katz, Adam Chamberlin, Hansook Kim Chong, Holly LaDuca, Aaron Elliott

    Foilsithe / Cruthaithe 2016
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  6. 6
    Molecular mechanism of Zn <sup>2+</sup> inhibition of a voltage-gated proton channel

    Molecular mechanism of Zn <sup>2+</sup> inhibition of a voltage-gated proton channel de réir Feng Qiu, Adam Chamberlin, Briana M. Watkins, Alina Ionescu, Marta E. Perez, René Barro-Soria, Carlos González, Sergei Y. Noskov, H. Peter Larsson

    Foilsithe / Cruthaithe 2016
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  7. 7
    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

    REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification de réir Yuan Tian, Tina Pesaran, Adam Chamberlin, R. Bryn Fenwick, Shuwei Li, Chia‐Ling Gau, Elizabeth Chao, Hsiao‐Mei Lu, Mary Helen Black, Dajun Qian

    Foilsithe / Cruthaithe 2019
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  8. 8
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities de réir Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjærsgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes R. Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra

    Foilsithe / Cruthaithe 2017
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  9. 9
    Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis

    Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis de réir Joseph D. Sherrill, Kiran KC, Xinjian Wang, Ting Wen, Adam Chamberlin, Emily M. Stucke, Margaret H. Collins, J. Pablo Abonia, Yanyan Peng, Qiang Wu, Philip E. Putnam, Phillip J. Dexheimer, Bruce J. Aronow, Leah C. Kottyan, Kenneth M. Kaufman, John B. Harley, Taosheng Huang, Marc E. Rothenberg

    Foilsithe / Cruthaithe 2018
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  10. 10
    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia

    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia de réir Katherine L. Helbig, Ulrike B. S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Lüdger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

    Foilsithe / Cruthaithe 2016
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