Canlyniadau Chwilio - Abhyankar, Avinash

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Disease variants in genomes of 44 centenarians gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis gan 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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn

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

Cael y testun llawn Cael y testun llawn Cael y testun llawn