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Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links
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 in Genes & development (01.06.2020)
Published in Genes & development (01.06.2020)
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K, Colleaux, Laurence, Nabbout, Rima
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination
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 in Molecular cell (06.08.2015)
Published in Molecular cell (06.08.2015)
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Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells
Lafaille, Fabien G., Pessach, Itai M., Zhang, Shen-Ying, Ciancanelli, Michael J., Herman, Melina, Abhyankar, Avinash, Ying, Shui-Wang, Keros, Sotirios, Goldstein, Peter A., Mostoslavsky, Gustavo, Ordovas-Montanes, Jose, Jouanguy, Emmanuelle, Plancoulaine, Sabine, Tu, Edmund, Elkabetz, Yechiel, Al-Muhsen, Saleh, Tardieu, Marc, Schlaeger, Thorsten M., Daley, George Q., Abel, Laurent, Casanova, Jean-Laurent, Studer, Lorenz, Notarangelo, Luigi D.
Published in Nature (London) (29.11.2012)
Published in Nature (London) (29.11.2012)
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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Amendola, Laura M., Muenzen, Kathleen, Biesecker, Leslie G., Bowling, Kevin M., Cooper, Greg M., Dorschner, Michael O., Driscoll, Catherine, Foreman, Ann Katherine M., Golden-Grant, Katie, Greally, John M., Hindorff, Lucia, Kanavy, Dona, Jobanputra, Vaidehi, Johnston, Jennifer J., Kenny, Eimear E., McNulty, Shannon, Murali, Priyanka, Ou, Jeffrey, Powell, Bradford C., Rehm, Heidi L., Rolf, Bradley, Roman, Tamara S., Van Ziffle, Jessica, Guha, Saurav, Abhyankar, Avinash, Crosslin, David, Venner, Eric, Yuan, Bo, Zouk, Hana, Jarvik, Gail P.
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood
Herman, Melina, Ciancanelli, Michael, Ou, Yi-Hung, Lorenzo, Lazaro, Klaudel-Dreszler, Maja, Pauwels, Elodie, Sancho-Shimizu, Vanessa, Pérez de Diego, Rebeca, Abhyankar, Avinash, Israelsson, Elisabeth, Guo, Yiqi, Cardon, Annabelle, Rozenberg, Flore, Lebon, Pierre, Tardieu, Marc, Heropolitańska-Pliszka, Edyta, Chaussabel, Damien, White, Michael A., Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent
Published in The Journal of experimental medicine (27.08.2012)
Published in The Journal of experimental medicine (27.08.2012)
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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia
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 in Cell reports (Cambridge) (07.07.2015)
Published in Cell reports (Cambridge) (07.07.2015)
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human gene connectome as a map of short cuts for morbid allele discovery
Itan, Yuval, Zhang, Shen-Ying, Vogt, Guillaume, Abhyankar, Avinash, Herman, Melina, Nitschke, Patrick, Fried, Dror, Quintana-Murci, Lluis, Abel, Laurent, Casanova, Jean-Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (02.04.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (02.04.2013)
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Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections
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 in PloS one (27.08.2012)
Published in PloS one (27.08.2012)
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
Le Goff, Carine, Mahaut, Clémentine, Abhyankar, Avinash, Le Goff, Wilfried, Serre, Valérie, Afenjar, Alexandra, Destrée, Anne, di Rocco, Maja, Héron, Delphine, Jacquemont, Sébastien, Marlin, Sandrine, Simon, Marleen, Tolmie, John, Verloes, Alain, Casanova, Jean-Laurent, Munnich, Arnold, Cormier-Daire, Valérie
Published in Nature genetics (01.01.2012)
Published in Nature genetics (01.01.2012)
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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
Byun, Minji, Ma, Cindy S., Akçay, Arzu, Pedergnana, Vincent, Palendira, Umaimainthan, Myoung, Jinjong, Avery, Danielle T., Liu, Yifang, Abhyankar, Avinash, Lorenzo, Lazaro, Schmidt, Monika, Lim, Hye Kyung, Cassar, Olivier, Migaud, Melanie, Rozenberg, Flore, Canpolat, Nur, Aydoğan, Gönül, Fleckenstein, Bernhard, Bustamante, Jacinta, Picard, Capucine, Gessain, Antoine, Jouanguy, Emmanuelle, Cesarman, Ethel, Olivier, Martin, Gros, Philippe, Abel, Laurent, Croft, Michael, Tangye, Stuart G., Casanova, Jean-Laurent
Published in The Journal of experimental medicine (26.08.2013)
Published in The Journal of experimental medicine (26.08.2013)
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A novel mutation in the POLE2 gene causing combined immunodeficiency
Frugoni, Francesco, Dobbs, Kerry, Felgentreff, Kerstin, Aldhekri, Hasan, Al Saud, Bandar K., Arnaout, Rand, Ali, Afshan Ashraf, Abhyankar, Avinash, Alroqi, Fayhan, Giliani, Silvia, Ojeda, Mayra Martinez, Tsitsikov, Erdyni, Pai, Sung-Yun, Casanova, Jean Laurent, Notarangelo, Luigi D., Manis, John P.
Published in Journal of allergy and clinical immunology (01.02.2016)
Published in Journal of allergy and clinical immunology (01.02.2016)
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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
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 in BMC genomics (03.04.2014)
Published in BMC genomics (03.04.2014)
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P635: Validating fetal RNA sequencing to improve classification of splicing variants in prenatal diagnosis
Han, Ted, Rehman, Atteeq, Krithivasan, Priya, Shea, Patrick, Lam, Alicia, Ficurilli, Michael, Hegedus, Endre, Cadet, Junior, Felice, Vanessa, Giordano, Jessica, Abhyankar, Avinash, Wapner, Ronald, Jobanputra, Vaidehi
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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P135: Integrating germline analysis with tumor sequencing: Advancing cancer genomics
Okur, Volkan, Melas, Marilena, Elder, Bruce, Srinivasa, Sowmya Thirumalai, Guha, Saurav, Primiano, Michelle, Wilson, Ashley, Kandasamy, Shree Lekha, Abhyankar, Avinash, Sternberg, Cora, Guevara, Daniela, Jobanputra, Vaidehi
Published in Genetics in Medicine Open (2025)
Published in Genetics in Medicine Open (2025)
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Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
Kong, Xiao-Fei, Vogt, Guillaume, Itan, Yuval, Macura-Biegun, Anna, Szaflarska, Anna, Kowalczyk, Danuta, Chapgier, Ariane, Abhyankar, Avinash, Furthner, Dieter, Djambas Khayat, Claudia, Okada, Satoshi, Bryant, Vanessa L., Bogunovic, Dusan, Kreins, Alexandra, Moncada-Vélez, Marcela, Migaud, Mélanie, Al-Ajaji, Sulaiman, Al-Muhsen, Saleh, Holland, Steven M., Abel, Laurent, Picard, Capucine, Chaussabel, Damien, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in Human molecular genetics (15.02.2013)
Published in Human molecular genetics (15.02.2013)
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A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease
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 in PloS one (05.03.2013)
Published in PloS one (05.03.2013)
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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
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 in PloS one (04.01.2012)
Published in PloS one (04.01.2012)
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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
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 in Frontiers in immunology (27.06.2018)
Published in Frontiers in immunology (27.06.2018)
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O44: Genome sequencing as a first-tier prenatal diagnostic test
Jobanputra, Vaidehi, Giordano, Jessica, Pervola, Josie, Wilson, Ashley, Guha, Saurav, Thomas-Wilson, Amanda, Rehman, Atteeq, Okur, Volkan, Han, Ted, Esteves, Cecilia, Tinfow, Alexandra, Galloway, Stephanie, Srinivasa, Sowmya T., Khan, Shahid, Brace, Poppy, Nava, Caroline, Perrin, Hannah, Elder, Bruce, Hegedus, Endre, Felice, Vanessa, Phadke, Shruti, Abhyankar, Avinash, Wapner, Ronald
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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