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Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3239, doi. 10.1172/JCI62949
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
Publication type:
Article
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
By:
- 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
Publication type:
Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
By:
- 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
Publication type:
Article
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.
Published in:
Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01340
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
Publication type:
Article
A Novel Homozygous p.R1105X Mutation of the <i>AP4E1</i> Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058286
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
Publication type:
Article
Inherited MST1 Deficiency Underlies Susceptibility to EVHPV Infections.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044010
By:
- Crequer, Amandine;
- Picard, Capucine;
- Patin, Etienne;
- D'Amico, Aurelia;
- Abhyankar, Avinash;
- Munzer, Martine;
- Debre, Marianne;
- Shen-Ying Zhang;
- de Saint-Basile, Geneviève;
- Fischer, Alain;
- Abel, Laurent;
- Orth, Gérard;
- Casanova, Jean-Laurent;
- Jouanguy, Emmanuelle;
- Wurfel, Mark M.
Publication type:
Article
A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant.
Published in:
PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029708
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
Publication type:
Article
Comparative Sequence Analysis of the Non-Protein- Coding Mitochondrial DNA of Inbred Rat Strains.
Published in:
PLoS ONE, 2009, v. 4, n. 12, p. 1, doi. 10.1371/journal.pone.0008148
By:
- Abhyankar, Avinash;
- Hee-Bok Park;
- Tonolo, Giancarlo;
- Luthman, Holger
Publication type:
Article
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Published in:
Nature Immunology, 2012, v. 13, n. 12, p. 1178, doi. 10.1038/ni.2457
By:
- Boisson, Bertrand;
- Laplantine, Emmanuel;
- Prando, Carolina;
- Giliani, Silvia;
- Israelsson, Elisabeth;
- Xu, Zhaohui;
- Abhyankar, Avinash;
- Israël, Laura;
- Trevejo-Nunez, Giraldina;
- Bogunovic, Dusan;
- Cepika, Alma-Martina;
- MacDuff, Donna;
- Chrabieh, Maya;
- Hubeau, Marjorie;
- Bajolle, Fanny;
- Debré, Marianne;
- Mazzolari, Evelina;
- Vairo, Donatella;
- Agou, Fabrice;
- Virgin, Herbert W
Publication type:
Article
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Published in:
Clinical Case Reports, 2018, v. 6, n. 1, p. 200, doi. 10.1002/ccr3.1284
By:
- Abhyankar, Avinash;
- Lamendola‐Essel, Michelle;
- Brennan, Kelly;
- Giordano, Jessica L.;
- Esteves, Cecilia;
- Felice, Vanessa;
- Wapner, Ronald;
- Jobanputra, Vaidehi
Publication type:
Article
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Published in:
Clinical Genetics, 2023, v. 104, n. 2, p. 210, doi. 10.1111/cge.14365
By:
- Bonini, Katherine E.;
- Thomas‐Wilson, Amanda;
- Marathe, Priya N.;
- Sebastin, Monisha;
- Odgis, Jacqueline A.;
- Di Biase, Miranda;
- Kelly, Nicole R.;
- Ramos, Michelle A.;
- Insel, Beverly J.;
- Scarimbolo, Laura;
- Rehman, Atteeq U.;
- Guha, Saurav;
- Okur, Volkan;
- Abhyankar, Avinash;
- Phadke, Shruti;
- Nava, Caroline;
- Gallagher, Katie M.;
- Elkhoury, Lama;
- Edelmann, Lisa;
- Zinberg, Randi E.
Publication type:
Article
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Published in:
2021
By:
- Odgis, Jacqueline A.;
- Gallagher, Katie M.;
- Suckiel, Sabrina A.;
- Donohue, Katherine E.;
- Ramos, Michelle A.;
- Kelly, Nicole R.;
- Bertier, Gabrielle;
- Blackburn, Christina;
- Brown, Kaitlyn;
- Fielding, Lena;
- Lopez, Jessenia;
- Aguiniga, Karla Lopez;
- Maria, Estefany;
- Rodriguez, Jessica E.;
- Sebastin, Monisha;
- Teitelman, Nehama;
- Watnick, Dana;
- Yelton, Nicole M.;
- Abhyankar, Avinash;
- Abul-Husn, Noura S.
Publication type:
Correction Notice
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Published in:
2021
By:
- Odgis, Jacqueline A.;
- Gallagher, Katie M.;
- Suckiel, Sabrina A.;
- Donohue, Katherine E.;
- Ramos, Michelle A.;
- Kelly, Nicole R.;
- Bertier, Gabrielle;
- Blackburn, Christina;
- Brown, Kaitlyn;
- Fielding, Lena;
- Lopez, Jessenia;
- Aguiniga, Karla Lopez;
- Maria, Estefany;
- Rodriguez, Jessica E.;
- Sebastin, Monisha;
- Teitelman, Nehama;
- Watnick, Dana;
- Yelton, Nicole M.;
- Abhyankar, Avinash;
- Abul-Husn, Noura S.
Publication type:
corrected article
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Published in:
2021
By:
- Odgis, Jacqueline A.;
- Gallagher, Katie M.;
- Suckiel, Sabrina A.;
- Donohue, Katherine E.;
- Ramos, Michelle A.;
- Kelly, Nicole R.;
- Bertier, Gabrielle;
- Blackburn, Christina;
- Brown, Kaitlyn;
- Fielding, Lena;
- Lopez, Jessenia;
- Aguiniga, Karla Lopez;
- Maria, Estefany;
- Rodriguez, Jessica E.;
- Sebastin, Monisha;
- Teitelman, Nehama;
- Watnick, Dana;
- Yelton, Nicole M.;
- Abhyankar, Avinash;
- Abul-Husn, Noura S.
Publication type:
journal article
Disease variants in genomes of 44 centenarians.
Published in:
Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 438, doi. 10.1002/mgg3.86
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
Publication type:
Article
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 14, p. 3096, doi. 10.1093/hmg/ddw150
By:
- Freudenberg-Hua, Yun;
- Wentian Li;
- 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
Publication type:
Article
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. 769, doi. 10.1093/hmg/dds484
By:
- 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
Publication type:
Article
Novel Congenic Strain of the Goto-Kakizaki Rat Reveals Nuclear-Mitochondrial Interactions in Type 2 Diabetes.
Published in:
Diabetes, 2007, v. 56, p. A305
By:
- Abhyankar, Avinash;
- Rosengren, Anders;
- Berger, Karin;
- Renström, Erik;
- Degerman, Eva;
- Tonolo, Giancarlo;
- Luthman, Holger
Publication type:
Article
Increased Renal Arterial Resistance Predicts the Course of Renal Function in Type 2 Diabetes With Microalbuminuria.
Published in:
Diabetes, 2006, v. 55, n. 1, p. 234, doi. 10.2337/diabetes.55.01.06.db05-0881
By:
- Nosadini, Romano;
- Velussi, Mario;
- Brocco, Enrico;
- Abaterusso, Cataldo;
- Carraro, Andrea;
- Piarulli, Francesco;
- Morgia, Giuseppe;
- Satta, Andrea;
- Faedda, Rossana;
- Abhyankar, Avinash;
- Luthman, Holgher;
- Tonolo, Giancarlo
Publication type:
Article
Altered transcapillary escape of albumin and microalbuminuria reflects two different pathogenetic mechanisms.
Published in:
2005
By:
- Nosadini, Romano;
- Velussi, Mario;
- Brocco, Enrico;
- Abaterusso, Cataldo;
- Piarulli, Francesco;
- Morgia, Giuseppe;
- Satta, Andrea;
- Faedda, Rossana;
- Abhyankar, Avinash;
- Luthman, Holger;
- Tonolo, Giancarlo
Publication type:
journal article
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
Published in:
Nature, 2012, v. 491, n. 7426, p. 769, doi. 10.1038/nature11583
By:
- 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
Publication type:
Article
A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470
By:
- Thomas, Sophie;
- Wright, Kevin J.;
- Corre, Stéphanie Le;
- Micalizzi, Alessia;
- Romani, Marta;
- Abhyankar, Avinash;
- Saada, Julien;
- Perrault, Isabelle;
- Amiel, Jeanne;
- Litzler, Julie;
- Filhol, Emilie;
- Elkhartoufi, Nadia;
- Kwong, Mandy;
- Casanova, Jean‐Laurent;
- Boddaert, Nathalie;
- Baehr, Wolfgang;
- Lyonnet, Stanislas;
- Munnich, Arnold;
- Burglen, Lydie;
- Chassaing, Nicolas
Publication type:
Article
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease.
Published in:
Human Mutation, 2012, v. 33, n. 9, p. 1377, doi. 10.1002/humu.22113
By:
- Tsumura, Miyuki;
- Okada, Satoshi;
- Sakai, Hidemasa;
- Yasunaga, Shin'ichiro;
- Ohtsubo, Motoaki;
- Murata, Takuji;
- Obata, Hideto;
- Yasumi, Takahiro;
- Kong, Xiao-Fei;
- Abhyankar, Avinash;
- Heike, Toshio;
- Nakahata, Tatsutoshi;
- Nishikomori, Ryuta;
- Al-Muhsen, Saleh;
- Boisson-Dupuis, Stéphanie;
- Casanova, Jean-Laurent;
- AlZahrani, Mofareh;
- Shehri, Mohammed Al;
- ElGhazali, Geyhad;
- Takihara, Yoshihiro
Publication type:
Article
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.
Published in:
BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-256
By:
- Itan, Yuval;
- Mazel, Mark;
- Mazel, Benjamin;
- Abhyankar, Avinash;
- Nitschke, Patrick;
- Quintana-Murci, Lluis;
- Boisson-Dupuis, Stephanie;
- Boisson, Bertrand;
- Abel, Laurent;
- Shen-Ying Zhang;
- Casanova, Jean-Laurent
Publication type:
Article

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