Torthaí cuardaigh - Abhyankar, Avinash

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Disease variants in genomes of 44 centenarians de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán