| 1 |
IJspeert_2014 |
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes |
IJspeert, Hanna; Driessen, Gertjan J.; Moorhouse, Michael J.; Hartwig, Nico G.; Wolska-Kusnierz, Beata; Kalwak, Krzysztof; Pituch-Noworolska, Anna; Kondratenko, Irina; van Montfrans, Joris M.; Mejstrikova, Ester; Lankester, Arjan C.; Langerak, Anton W.; van Gent, Dik C.; Stubbs, Andrew P.; van Dongen, Jacques J.M.; van der Burg, Mirjam |
2014 |
2014-04-30 |
PMC |
N |
PMC7112318 |
24418478.0 |
10.1016/j.jaci.2013.11.028 |
4l574k3q |
0.801968 |
|
UNKNOWN_1986 |
| 2 |
Häfliger_2019 |
APOB‐associated cholesterol deficiency in Holstein cattle is not a simple recessive disease |
Häfliger, Irene Monika; Hofstetter, Sonja; Mock, Thomas; Stettler, Manuela Hanna; Meylan, Mireille; Mehinagic, Kemal; Stokar‐Regenscheit, Nadine; Drögemüller, Cord |
2019 |
2019-06-18 |
PMC |
N |
PMC7159454 |
31215050.0 |
10.1111/age.12801 |
cvte32fx |
0.703060 |
Zhang_2017, Lan_H_2019, Aylor_2011 |
|
| 3 |
Cox_A_2018 |
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. |
Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk |
2018 |
2018-12-13 |
BioRxiv |
N |
|
|
10.1101/496133 |
j5jrpbst |
0.698572 |
|
Kalia_2016, Cho_K_2018 |
| 4 |
van_de_Vosse_2013 |
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database |
van de Vosse, Esther; Haverkamp, Margje H.; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayşe; Garty, Ben Zion; Sun-Tan, Çağman; Broides, Arnon; de Paus, Roelof A.; Keskin, Özlem; Çağdaş, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I.; Levy, Jacov; Espinosa-Rosales, Francisco J.; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; van Dissel, Jaap T.; Bustamante, Jacinta |
2013 |
2013-08-08 |
PMC |
N |
PMC4104692 |
23864330.0 |
10.1002/humu.22380 |
fz9i597a |
0.693260 |
Gu_W_2004 |
Torres_2010 |
| 5 |
Seifi_2018 |
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms |
Seifi, Morteza; Walter, Michael A. |
2018 |
2018-04-17 |
COMM-USE |
N |
PMC5903617 |
29664915.0 |
10.1371/journal.pone.0195971 |
bkr4ndl2 |
0.690251 |
|
Kalia_2016 |
| 6 |
Merdler-Rabinowicz_2019 |
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease) |
Merdler-Rabinowicz, Rona; Grinberg, Anna; Jacobson, Jeffrey M.; Somekh, Ido; Klein, Christoph; Lev, Atar; Ihsan, Salama; Habib, Adib; Somech, Raz; Simon, Amos J. |
2019 |
2019-07-09 |
PMC |
N |
PMC7086575 |
31288248.0 |
10.1038/s41390-019-0499-0 |
ka9gnwyp |
0.636281 |
Mazumder_2015 |
|
| 7 |
Cho_K_2018 |
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia |
Cho, Kazutoshi; Yamada, Masafumi; Agematsu, Kazunaga; Kanegane, Hirokazu; Miyake, Noriko; Ueki, Masahiro; Akimoto, Takuma; Kobayashi, Norimoto; Ikemoto, Satoru; Tanino, Mishie; Fujita, Atsushi; Hayasaka, Itaru; Miyamoto, Satoshi; Tanaka-Kubota, Mari; Nakata, Koh; Shiina, Masaaki; Ogata, Kazuhiro; Minakami, Hisanori; Matsumoto, Naomichi; Ariga, Tadashi |
2018 |
2018-03-01 |
None |
N |
PMC5985284 |
29455859.0 |
10.1016/j.ajhg.2018.01.019 |
b592ihwk |
0.630689 |
|
Merdler-Rabinowicz_2019 |
| 8 |
Hilton_2017 |
The Intergenic Recombinant HLA-B∗46:01 Has a Distinctive Peptidome that Includes KIR2DL3 Ligands |
Hilton, Hugo G.; McMurtrey, Curtis P.; Han, Alex S.; Djaoud, Zakia; Guethlein, Lisbeth A.; Blokhuis, Jeroen H.; Pugh, Jason L.; Goyos, Ana; Horowitz, Amir; Buchli, Rico; Jackson, Ken W.; Bardet, Wilfred; Bushnell, David A.; Robinson, Philip J.; Mendoza, Juan L.; Birnbaum, Michael E.; Nielsen, Morten; Garcia, K. Christopher; Hildebrand, William H.; Parham, Peter |
2017 |
2017-05-16 |
None |
N |
PMC5510751 |
28514659.0 |
10.1016/j.celrep.2017.04.059 |
v805u6zu |
0.627473 |
|
|
| 9 |
Manderstedt_2018 |
Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients |
Manderstedt, Eric; Lind-Halldén, Christina; Lethagen, Stefan; Halldén, Christer |
2018 |
2018-02-01 |
COMM-USE |
N |
PMC5794141 |
29389944.0 |
10.1371/journal.pone.0192024 |
7ll7sd3o |
0.605990 |
Wang_2010 |
Yang_2011 |
| 10 |
Toncheva_2014 |
NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy |
Toncheva, D.; Mihailova-Hristova, M.; Vazharova, R.; Staneva, R.; Karachanak, S.; Dimitrov, P.; Simeonov, V.; Ivanov, S.; Balabanski, L.; Serbezov, D.; Malinov, M.; Stefanovic, V.; Čukuranović, R.; Polenakovic, M.; Jankovic-Velickovic, L.; Djordjevic, V.; Jevtovic-Stoimenov, T.; Plaseska-Karanfilska, D.; Galabov, A.; Djonov, V.; Dimova, I. |
2014 |
2014-05-15 |
COMM-USE |
N |
PMC4052113 |
24949484.0 |
10.1155/2014/920723 |
f72hl6du |
0.574082 |
Nogales_2019 |
Yang_2011, Torres_2010 |
| 11 |
Nakano_2012 |
Common Variants in CDKN2B-AS1 Associated with Optic-Nerve Vulnerability of Glaucoma Identified by Genome-Wide Association Studies in Japanese |
Nakano, Masakazu; Ikeda, Yoko; Tokuda, Yuichi; Fuwa, Masahiro; Omi, Natsue; Ueno, Morio; Imai, Kojiro; Adachi, Hiroko; Kageyama, Masaaki; Mori, Kazuhiko; Kinoshita, Shigeru; Tashiro, Kei |
2012 |
2012-03-12 |
COMM-USE |
N |
PMC3299784 |
22428042.0 |
10.1371/journal.pone.0033389 |
zmhobi0r |
0.555325 |
|
Yang_2011, Kuo_H_2014 |
| 12 |
Benjafield_2004 |
No association of Angiotensin-Converting enzyme 2 gene (ACE2) polymorphisms with essential hypertension |
Benjafield, Adam V.; Wang, William Y.S.; Morris, Brian J. |
2004 |
2004-07-31 |
PMC |
N |
PMC7110370 |
15233982.0 |
10.1016/j.amjhyper.2004.02.022 |
bpkktgmp |
0.523126 |
|
Dettogni_2013 |
| 13 |
Luo_C_2011 |
VP-1 Quasispecies in Human Infection with Polyomavirus BK |
Luo, Chunqing; Hirsch, Hans; Kant, Jeffrey; Randhawa, Parmjeet |
2011 |
2011-11-03 |
PMC |
N |
PMC3220780 |
22052529.0 |
10.1002/jmv.22147 |
43dy5siv |
0.511756 |
Gu_W_2004 |
|
| 14 |
Glinsky_2019 |
Impacts of genomic networks governed by human-specific regulatory sequences and genetic loci harboring fixed human-specific neuro-regulatory single nucleotide mutations on phenotypic traits of Modern Humans |
Gennadi V. Glinsky |
2019 |
2019-11-20 |
BioRxiv |
N |
|
|
10.1101/848762 |
r03f3874 |
0.500347 |
|
|
| 15 |
Doyle_2010 |
THE IL-6 (−174, C/C) GENOTYPE PREDICTS GREATER RHINOVIRUS ILLNESS |
Doyle, William J.; Casselbrant, Margaretha L.; Li-Korotky, Ha-Sheng; Cullen Doyle, Allison P.; Lo, Chia-Yee; Turner, Ronald; Cohen, Sheldon |
2010 |
2010-01-15 |
PMC |
N |
PMC2943745 |
20001857.0 |
10.1086/649559 |
8tovupdm |
0.485352 |
Scagnolari_2012, Astudillo_2019 |
Wang_2014 |
| 16 |
Lupiañez_2016 |
Common Genetic Polymorphisms within NFκB-Related Genes and the Risk of Developing Invasive Aspergillosis |
Lupiañez, Carmen B.; Villaescusa, María T.; Carvalho, Agostinho; Springer, Jan; Lackner, Michaela; Sánchez-Maldonado, José M.; Canet, Luz M.; Cunha, Cristina; Segura-Catena, Juana; Alcazar-Fuoli, Laura; Solano, Carlos; Fianchi, Luana; Pagano, Livio; Potenza, Leonardo; Aguado, José M.; Luppi, Mario; Cuenca-Estrella, Manuel; Lass-Flörl, Cornelia; Einsele, Hermann; Vázquez, Lourdes; Ríos-Tamayo, Rafael; Loeffler, Jurgen; Jurado, Manuel; Sainz, Juan |
2016 |
2016-08-12 |
COMM-USE |
N |
PMC4982195 |
27570521.0 |
10.3389/fmicb.2016.01243 |
lx8lowf7 |
0.300323 |
Zhang_2014, Scagnolari_2012, Nogales_2019 |
Torres_2010, Liu_C_2016, Wang_2014 |