Publications:

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An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis.

Journal Of Crohn'S & Colitis

Mortlock, Sally S; Lord, Anton A; Montgomery, Grant G; Zakrzewski, Martha M; Simms, Lisa A LA; Krishnaprasad, Krupa K; Hanigan, Katherine K; Doecke, James D JD; Walsh, Alissa A; Lawrance, Ian C IC; Bampton, Peter A PA; Andrews, Jane M JM; Mahy, Gillian G; Connor, Susan J SJ; Sparrow, Miles P MP; Bell, Sally S; Florin, Timothy H TH; Begun, Jakob J; Gearry, Richard B RB; Radford-Smith, Graham L GL

Publication Date: 2022-09-16

Variant appearance in text: rs4151651

PubMed Link: 36111848

Variant Present in the following documents:

• Main text
• jjac121.pdf

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Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Current Issues In Molecular Biology

Gavriilaki, Eleni E; Tsiftsoglou, Stefanos A SA; Touloumenidou, Tasoula T; Farmaki, Evangelia E; Panagopoulou, Paraskevi P; Michailidou, Elissavet E; Koravou, Evaggelia-Evdoxia EE; Mavrikou, Ioulia I; Iosifidis, Elias E; Tsiatsiou, Olga O; Papadimitriou, Eleni E; Papadopoulou-Alataki, Efimia E; Papayanni, Penelope Georgia PG; Varelas, Christos C; Kokkoris, Styliani S; Papalexandri, Apostolia A; Fotoulaki, Maria M; Galli-Tsinopoulou, Assimina A; Zafeiriou, Dimitrios D; Roilides, Emmanuel E; Sakellari, Ioanna I; Anagnostopoulos, Achilles A; Tragiannidis, Athanasios A

Publication Date: 2022-06-28

Variant appearance in text: rs4151651

PubMed Link: 35877417

Variant Present in the following documents:

• cimb-44-00193.pdf

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Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci.

European Journal Of Human Genetics : Ejhg

Zhang, Yu Y; Tian, Lifeng L; Sleiman, Patrick P; Ghosh, Soumitra S; Hakonarson, Hakon H; ,

Publication Date: 2018-02

Variant appearance in text: rs4151651

PubMed Link: 29203833

Variant Present in the following documents:

• Main text

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Crohn's Disease Localization Displays Different Predisposing Genetic Variants.

Plos One

Palmieri, Orazio O; Bossa, Fabrizio F; Valvano, Maria Rosa MR; Corritore, Giuseppe G; Latiano, Tiziana T; Martino, Giuseppina G; D'Incà, Renata R; Cucchiara, Salvatore S; Pastore, Maria M; D'Altilia, Mario M; Scimeca, Daniela D; Biscaglia, Giuseppe G; Andriulli, Angelo A; Latiano, Anna A

Publication Date: 2017

Variant appearance in text: rs4151651

PubMed Link: 28052082

Variant Present in the following documents:

• Main text
• pone.0168821.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4151651

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.

Lancet (London, England)

Cleynen, Isabelle I; Boucher, Gabrielle G; Jostins, Luke L; Schumm, L Philip LP; Zeissig, Sebastian S; Ahmad, Tariq T; Andersen, Vibeke V; Andrews, Jane M JM; Annese, Vito V; Brand, Stephan S; Brant, Steven R SR; Cho, Judy H JH; Daly, Mark J MJ; Dubinsky, Marla M; Duerr, Richard H RH; Ferguson, Lynnette R LR; Franke, Andre A; Gearry, Richard B RB; Goyette, Philippe P; Hakonarson, Hakon H; Halfvarson, Jonas J; Hov, Johannes R JR; Huang, Hailang H; Kennedy, Nicholas A NA; Kupcinskas, Limas L; Lawrance, Ian C IC; Lee, James C JC; Satsangi, Jack J; Schreiber, Stephan S; Théâtre, Emilie E; van der Meulen-de Jong, Andrea E AE; Weersma, Rinse K RK; Wilson, David C DC; , ; Parkes, Miles M; Vermeire, Severine S; Rioux, John D JD; Mansfield, John J; Silverberg, Mark S MS; Radford-Smith, Graham G; McGovern, Dermot P B DP; Barrett, Jeffrey C JC; Lees, Charlie W CW

Publication Date: 2016-01-09

Variant appearance in text: rs4151651

PubMed Link: 26490195

Variant Present in the following documents:

• Main text
• main.pdf

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs4151651

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 1

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Analysis of candidate genes for macular telangiectasia type 2.

Molecular Vision

Parmalee, Nancy L NL; Schubert, Carl C; Merriam, Joanna E JE; Allikmets, Kaija K; Bird, Alan C AC; Gillies, Mark C MC; Peto, Tunde T; Figueroa, Maria M; Friedlander, Martin M; Fruttiger, Marcus M; Greenwood, John J; Moss, Stephen E SE; Smith, Lois E H LE; Toomes, Carmel C; Inglehearn, Chris F CF; Allikmets, Rando R

Publication Date: 2010-12-14

Variant appearance in text: rs4151651

PubMed Link: 21179236

Variant Present in the following documents:

• mv-v16-2718.pdf

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The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)

Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA

Publication Date: 2009-10-01

Variant appearance in text: rs4151651

PubMed Link: 19654554

Variant Present in the following documents:

• Main text

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One

Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB

Publication Date: 2008-05-21

Variant appearance in text: rs4151651

PubMed Link: 18493315

Variant Present in the following documents:

• pone.0002199.s005.pdf

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Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.

Nature

Nejentsev, Sergey S; Howson, Joanna M M JM; Walker, Neil M NM; Szeszko, Jeffrey J; Field, Sarah F SF; Stevens, Helen E HE; Reynolds, Pamela P; Hardy, Matthew M; King, Erna E; Masters, Jennifer J; Hulme, John J; Maier, Lisa M LM; Smyth, Deborah D; Bailey, Rebecca R; Cooper, Jason D JD; Ribas, Gloria G; Campbell, R Duncan RD; Clayton, David G DG; Todd, John A JA; ,

Publication Date: 2007-12-06

Variant appearance in text: rs4151651

PubMed Link: 18004301

Variant Present in the following documents:

• Main text

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