Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1250258

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: FN1: 148+193G>A; rs1250258

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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A Framework for Efficient N-Way Interaction Testing in Case/Control Studies With Categorical Data.

Ieee Open Journal Of Engineering In Medicine And Biology

Aristodimou, Aristos A; Antoniades, Athos A; Dardiotis, Efthimios E; Loizidou, Eleni E; Spyrou, George G; Votsi, Christina C; Kyproula, Christodoulou C; Pantzaris, Marios M; Grigoriadis, Nikolaos N; Hadjigeorgiou, Georgios G; Kyriakides, Theodoros T; Pattichi, Constantinos C

Publication Date: 2021

Variant appearance in text: rs1250258

PubMed Link: 35402966

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications

Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: rs1250258

PubMed Link: 35078996

Variant Present in the following documents:

• 41467_2021_27850_MOESM1_ESM.pdf

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A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications

Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: rs1250258

PubMed Link: 35078996

Variant Present in the following documents:

• 41467_2021_27850_MOESM1_ESM.pdf

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs1250258

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications

Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N

Publication Date: 2021-10-15

Variant appearance in text: rs1250258

PubMed Link: 34654805

Variant Present in the following documents:

• 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia

Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P

Publication Date: 2021-09

Variant appearance in text: rs1250258

PubMed Link: 34226943

Variant Present in the following documents:

• 125_2021_5491_MOESM1_ESM.pdf

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A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Communications Biology

Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K

Publication Date: 2021-02-03

Variant appearance in text: FN1: 148+193G>A; rs1250258

PubMed Link: 33536631

Variant Present in the following documents:

• 42003_2020_1575_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Gene variants of adhesion molecules predispose to MS: A case-control study.

Neurology. Genetics

Dardiotis, Efthimios E; Panayiotou, Elena E; Siokas, Vasileios V; Aloizou, Athina-Maria AM; Christodoulou, Kyproula K; Hadjisavvas, Andreas A; Pantzaris, Marios M; Grigoriadis, Nikolaos N; Hadjigeorgiou, Georgios M GM; Kyriakides, Theodoros T

Publication Date: 2019-02

Variant appearance in text: rs1250258

PubMed Link: 30697591

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FN1: 148+193G>A; rs1250258

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1250258

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Gene variants of adhesion molecules act as modifiers of disease severity in MS.

Neurology(R) Neuroimmunology & Neuroinflammation

Dardiotis, Efthimios E; Panayiotou, Elena E; Provatas, Antonios A; Christodoulou, Kyproula K; Hadjisavvas, Andreas A; Antoniades, Athos A; Lourbopoulos, Athanasios A; Pantzaris, Marios M; Grigoriadis, Nikolaos N; Hadjigeorgiou, Georgios M GM; Kyriakides, Theodoros T

Publication Date: 2017-07

Variant appearance in text: rs1250258

PubMed Link: 28473999

Variant Present in the following documents:

• Main text
• NEURIMMINFL2016011809.pdf

View BVdb publication page

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Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis.

Human Reproduction (Oxford, England)

Uimari, Outi O; Rahmioglu, Nilufer N; Nyholt, Dale R DR; Vincent, Katy K; Missmer, Stacey A SA; Becker, Christian C; Morris, Andrew P AP; Montgomery, Grant W GW; Zondervan, Krina T KT

Publication Date: 2017-04-01

Variant appearance in text: rs1250258

PubMed Link: 28333195

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs1250258

PubMed Link: 23633020

Variant Present in the following documents:

• jid2013196x1.pdf

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