Rezultati - Abhyankar, Avinash

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

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

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

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

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Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links od 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

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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance od 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

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

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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency od 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

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma od 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

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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage od 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

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Differential burden of rare protein truncating variants in Alzheimer’s disease patients compared to centenarians od 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

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A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant od 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

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Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections od 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

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Disease variants in genomes of 44 centenarians od 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

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Deficiency of UBE2T, the E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, causes FA-T subtype of Fanconi anemia od 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

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis od 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

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Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency od 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

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A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination od 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

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New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe od 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

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Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections od 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

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