Search Results - Abhyankar, Avinash

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  1. 1
    Comparative Sequence Analysis of the Non-Protein-Coding Mitochondrial DNA of Inbred Rat Strains

    Comparative Sequence Analysis of the Non-Protein-Coding Mitochondrial DNA of Inbred Rat Strains by Abhyankar, Avinash, Park, Hee-Bok, Tonolo, Giancarlo, Luthman, Holger

    Published 2009
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  2. 2
    Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

    Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency by Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi

    Published 2017
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  3. 3
    Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies

    Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies by Jobanputra, Vaidehi, Andrews, Peter, Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Robinson, Dino, London, Ferrah, Hakker, Inessa, Wrzeszczynski, Kazimierz, Ronemus, Michael

    Published 2020
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  4. 4
    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 by Itan, Yuval, Zhang, Shen-Ying, Vogt, Guillaume, Abhyankar, Avinash, Herman, Melina, Nitschke, Patrick, Fried, Dror, Quintana-Murci, Lluis, Abel, Laurent, Casanova, Jean-Laurent

    Published 2013
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  5. 5
    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 by Rickman, Kimberly A., Noonan, Raymond J., Lach, Francis P., Sridhar, Sunandini, Wang, Anderson T., Abhyankar, Avinash, Huang, Athena, Kelly, Michael, Auerbach, Arleen D., Smogorzewska, Agata

    Published 2020
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  6. 6
    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 by Itan, Yuval, Mazel, Mark, Mazel, Benjamin, Abhyankar, Avinash, Nitschke, Patrick, Quintana-Murci, Lluis, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent

    Published 2014
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  7. 7
    A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

    A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease by Kong, Xiao-Fei, Bousfiha, Aziz, Rouissi, Abdelfettah, Itan, Yuval, Abhyankar, Avinash, Bryant, Vanessa, Okada, Satoshi, Ailal, Fatima, Bustamante, Jacinta, Casanova, Jean-Laurent, Hirst, Jennifer, Boisson-Dupuis, Stéphanie

    Published 2013
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  8. 8
    CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

    CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency by Requena, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D., Cooper, David N., Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent, Itan, Yuval

    Published 2018
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  9. 9
    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 by Byun, Minji, Abhyankar, Avinash, Lelarge, Virginie, Plancoulaine, Sabine, Palanduz, Ayse, Telhan, Leyla, Boisson, Bertrand, Picard, Capucine, Dewell, Scott, Zhao, Connie, Jouanguy, Emmanuelle, Feske, Stefan, Abel, Laurent, Casanova, Jean-Laurent

    Published 2010
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  10. 10
    Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

    Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage by Belkadi, Aziz, Pedergnana, Vincent, Cobat, Aurélie, Itan, Yuval, Vincent, Quentin B., Abhyankar, Avinash, Shang, Lei, El Baghdadi, Jamila, Bousfiha, Aziz, Alcais, Alexandre, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent

    Published 2016
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  11. 11
    Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians

    Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians by Freudenberg-Hua, Yun, Li, Wentian, Abhyankar, Avinash, Vacic, Vladimir, Cortes, Vanessa, Ben-Avraham, Danny, Koppel, Jeremy, Greenwald, Blaine, Germer, Soren, Darnell, Robert B., Barzilai, Nir, Freudenberg, Jan, Atzmon, Gil, Davies, Peter

    Published 2016
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  12. 12
    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 by Bolze, Alexandre, Abhyankar, Avinash, Grant, Audrey V., Patel, Bhavi, Yadav, Ruchi, Byun, Minji, Caillez, Daniel, Emile, Jean-Francois, Pastor-Anglada, Marçal, Abel, Laurent, Puel, Anne, Govindarajan, Rajgopal, de Pontual, Loic, Casanova, Jean-Laurent

    Published 2012
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  13. 13
    Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

    Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections by Crequer, Amandine, Picard, Capucine, Patin, Etienne, D’Amico, Aurelia, Abhyankar, Avinash, Munzer, Martine, Debré, Marianne, Zhang, Shen-Ying, de Saint-Basile, Geneviève, Fischer, Alain, Abel, Laurent, Orth, Gérard, Casanova, Jean-Laurent, Jouanguy, Emmanuelle

    Published 2012
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  14. 14
    Disease variants in genomes of 44 centenarians

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

    Published 2014
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  15. 15
    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 by Rickman, Kimberly A., Lach, Francis P., Abhyankar, Avinash, Donovan, Frank X., Sanborn, Erica M., Kennedy, Jennifer A., Sougnez, Carrie, Gabriel, Stacey B., Elemento, Olivier, Chandrasekharappa, Settara C., Schindler, Detlev, Auerbach, Arleen D., Smogorzewska, Agata

    Published 2015
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  16. 16
    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis by Michot, Caroline, Le Goff, Carine, Goldenberg, Alice, Abhyankar, Avinash, Klein, Céline, Kinning, Esther, Guerrot, Anne-Marie, Flahaut, Philippe, Duncombe, Alice, Baujat, Genevieve, Lyonnet, Stanislas, Thalassinos, Caroline, Nitschke, Patrick, Casanova, Jean-Laurent, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie

    Published 2012
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  17. 17
    Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

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

    Published 2010
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  18. 18
    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 by Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata

    Published 2015
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  19. 19
    New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

    New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe by Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László

    Published 2013
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  20. 20
    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 by Crequer, Amandine, Troeger, Anja, Patin, Etienne, Ma, Cindy S., Picard, Capucine, Pedergnana, Vincent, Fieschi, Claire, Lim, Annick, Abhyankar, Avinash, Gineau, Laure, Mueller-Fleckenstein, Ingrid, Schmidt, Monika, Taieb, Alain, Krueger, James, Abel, Laurent, Tangye, Stuart G., Orth, Gérard, Williams, David A., Casanova, Jean-Laurent, Jouanguy, Emmanuelle

    Published 2012
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