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  1. 1
    The human gene connectome as a map of short cuts for morbid allele discovery

    The human gene connectome as a map of short cuts for morbid allele discovery por Yuval Itan, Shen‐Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschké, Dror Fried, Lluís Quintana‐Murci, Laurent Abel, Jean‐Laurent Casanova

    Publicado em 2013
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  2. 2
    Increased Renal Arterial Resistance Predicts the Course of Renal Function in Type 2 Diabetes With Microalbuminuria

    Increased Renal Arterial Resistance Predicts the Course of Renal Function in Type 2 Diabetes With Microalbuminuria por R. Nosadini, Mario Velussi, Enrico Brocco, Cataldo Abaterusso, Andrea Carraro, Francesco Piarulli, Giuseppe Morgia, Andrea Satta, Rossana Faedda, Avinash Abhyankar, Holgher Luthman, Giancarlo Tonolo

    Publicado em 2006
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  3. 3
    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance por Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschké, Lluı́s Quintana-Murci, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    Publicado em 2014
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  4. 4
    Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

    Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links por Kimberly A. Rickman, Raymond J. Noonan, Francis P. Lach, Sunandini Sridhar, Anderson T. Wang, Avinash Abhyankar, Athena L. Huang, Michael C. Kelly, Arleen D. Auerbach, Agata Smogorzewska

    Publicado em 2020
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  5. 5
    Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

    Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma por Minji Byun, Avinash Abhyankar, Virginie Lelarge, Sabine Plancoulaine, Ayşe Palandüz, Leyla Telhan, Bertrand Boisson, Capucine Pïcard, Scott Dewell, Connie Zhao, Emmanuelle Jouanguy, Stefan Feske, Laurent Abel, Jean‐Laurent Casanova

    Publicado em 2010
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  6. 6
    Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

    Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia por Kimberly A. Rickman, Francis P. Lach, Avinash Abhyankar, Frank X. Donovan, Erica Sanborn, Jennifer A. Kennedy, Carrie Sougnez, Stacey Gabriel, Olivier Elemento, Settara C. Chandrasekharappa, Detlev Schindler, Arleen D. Auerbach, Agata Smogorzewska

    Publicado em 2015
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  7. 7
    Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

    Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections por Amandine Créquer, Capucine Pïcard, Étienne Patin, Aurelia D’amico, Avinash Abhyankar, Martine Münzer, Marianne Debré, Shen‐Ying Zhang, Geneviève de Saint Basile, Alain Fischer, Laurent Abel, Gérard Orth, Jean‐Laurent Casanova, Emmanuelle Jouanguy

    Publicado em 2012
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  8. 8
    A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

    A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant por Alexandre Bolze, Avinash Abhyankar, Audrey V. Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean‐François Emile, Marçal Pastor‐Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loïc de Pontual, Jean‐Laurent Casanova

    Publicado em 2012
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  9. 9
    Disease variants in genomes of 44 centenarians

    Disease variants in genomes of 44 centenarians por Yun Freudenberg‐Hua, Jan Freudenberg, Vladimir Vacic, Avinash Abhyankar, Anne‐Katrin Emde, Danny Ben‐Avraham, Nir Barzilai, Dayna M. Oschwald, Erika Christen, Jeremy Koppel, Blaine Greenwald, Robert B. Darnell, Søren Germer, Gil Atzmon, Peter Davies

    Publicado em 2014
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  10. 10
    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis por Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne‐Marie Guerrot, Philippe Flahaut, A. Duncombe, Geneviève Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschké, Jean‐Laurent Casanova, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    Publicado em 2012
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  11. 11
    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease por Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda Thomas‐Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung

    Publicado em 2023
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  12. 12
    A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

    A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination por Anderson T. Wang, Tae Ho Kim, John E. Wagner, Brooke A. Conti, Francis P. Lach, Athena L. Huang, Henrik Molina, Erica Sanborn, Heather Zierhut, Belinda K. Cornes, Avinash Abhyankar, Carrie Sougnez, Stacey Gabriel, Arleen D. Auerbach, Stephen C. Kowalczykowski, Agata Smogorzewska

    Publicado em 2015
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  13. 13
    Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

    Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency por Alexandre Bolze, Minji Byun, David McDonald, Neil V. Morgan, Avinash Abhyankar, Lakshmanane Premkumar, Anne Puel, Chris M. Bacon, Frédéric Rieux‐Laucat, Ki Pang, Alison Britland, Laurent Abel, Andrew J. Cant, Eamonn R. Maher, Stefan J. Riedl, Sophie Hambleton, Jean‐Laurent Casanova

    Publicado em 2010
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  14. 14
    New and recurrent gain-of-function<i>STAT1</i>mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

    New and recurrent gain-of-function<i>STAT1</i>mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe por Beáta Soltész, Beáta Tóth, Nadejda Shabashova, Анастасія Бондаренко, Satoshi Okada, Sophie Cypowyj, Avinash Abhyankar, Gabriella Csorba, Szilvia Taskó, Adrien Katalin Sarkadi, Leonóra Méhes, P Rozsíval, David Neumann, Л.И. Чернышова, Zsolt Tulassay, Anne Puel, Jean‐Laurent Casanova, Anna Šedivá, Jiří Litzman, László Maródi

    Publicado em 2013
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  15. 15
    A novel mutation in the POLE2 gene causing combined immunodeficiency

    A novel mutation in the POLE2 gene causing combined immunodeficiency por Francesco Frugoni, Kerry Dobbs, Kerstin Felgentreff, Hasan Al‐Dhekri, Bandar K. Al Saud, Rand Arnaout, Afshan A. Ali, Avinash Abhyankar, Fayhan Alroqi, Silvia Giliani, Mayra Martinez Ojeda, Erdyni N. Tsitsikov, Sung‐Yun Pai, Jean‐Laurent Casanova, Luigi D. Notarangelo, John P. Manis

    Publicado em 2015
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  16. 16
    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

    De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy por Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara‐Rao Gazula, Maile R. Brown, Maéva Langouët, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschké, Anna Kaminśka, Nathalie Boddaert, Jean‐Laurent Casanova, Isabelle Desguerre, Arnold Münnich, Olivier Dulac, Leonard K. Kaczmarek, Laurence Colleaux, Rima Nabbout

    Publicado em 2012
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  17. 17
    Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

    Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections por Amandine Créquer, Anja Troeger, Étienne Patin, S. Cindy, Capucine Pïcard, Vincent Pedergnana, Claire Fieschi, Apiradee Lim, Avinash Abhyankar, Laure Gineau, Ingrid Mueller-Fleckenstein, Monika Schmidt, Alain Taı̈eb, James G. Krueger, Laurent Abel, Stuart G. Tangye, Gérard Orth, David A. Williams, Jean‐Laurent Casanova, Emmanuelle Jouanguy

    Publicado em 2012
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  18. 18
    Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

    Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease por Miyuki Tsumura, Satoshi Okada, Hidemasa Sakai, Shin’ichiro Yasunaga, Motoaki Ohtsubo, Takuji Murata, Hideto Obata, Takahiro Yasumi, Xiao‐Fei Kong, Avinash Abhyankar, Toshio Heike, Tatsutoshi Nakahata, Ryuta Nishikomori, Saleh Al‐Muhsen, Stéphanie Boisson‐Dupuis, Jean‐Laurent Casanova, Mofareh AlZahrani, Mohammed Al Shehri, Geyhad ElGhazali, Yoshihiro Takihara, Masao Kobayashi

    Publicado em 2012
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  19. 19
    Heterozygous <i>TBK1</i> mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

    Heterozygous <i>TBK1</i> mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood por Melina Herman, Michael J. Ciancanelli, Yi-Hung Ou, Lazaro Lorenzo, Maja Klaudel‐Dreszler, Elodie Pauwels, Vanessa Sancho‐Shimizu, Rebeca Pérez de Diego, Avinash Abhyankar, Elisabeth Israelsson, Yiqi Guo, Annabelle Cardon, Flore Rozenberg, Pierre Lebon, Marc Tardieu, Edyta Heropolitańska–Pliszka, Damien Chaussabel, Michael A. White, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    Publicado em 2012
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  20. 20
    Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

    Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells por Fabien G. Lafaille, Itai M. Pessach, Shen‐Ying Zhang, Michael J. Ciancanelli, Melina Herman, Avinash Abhyankar, Shui‐Wang Ying, Sotirios Keros, Peter A. Goldstein, Gustavo Mostoslavsky, José Ordovás-Montañés, Emmanuelle Jouanguy, Sabine Plancoulaine, Edmund Y. Tu, Yechiel Elkabetz, Saleh Al‐Muhsen, Marc Tardieu, Thorsten M. Schlaeger, George Q. Daley, Laurent Abel, Jean‐Laurent Casanova, Lorenz Studer, Luigi D. Notarangelo

    Publicado em 2012
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