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: rs3816587

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies.

Nar Genomics And Bioinformatics

Mieth, Bettina B; Rozier, Alexandre A; Rodriguez, Juan Antonio JA; Höhne, Marina M C MMC; Görnitz, Nico N; Müller, Klaus-Robert KR

Publication Date: 2021-09

Variant appearance in text: rs3816587

PubMed Link: 34296082

Variant Present in the following documents:

• Main text
• lqab065.pdf

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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: ANAPC4: 1901+82C>T; rs3816587

PubMed Link: 30319441

Variant Present in the following documents:

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

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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: rs3816587

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Combining Multiple Hypothesis Testing with Machine Learning Increases the Statistical Power of Genome-wide Association Studies.

Scientific Reports

Mieth, Bettina B; Kloft, Marius M; Rodríguez, Juan Antonio JA; Sonnenburg, Sören S; Vobruba, Robin R; Morcillo-Suárez, Carlos C; Farré, Xavier X; Marigorta, Urko M UM; Fehr, Ernst E; Dickhaus, Thorsten T; Blanchard, Gilles G; Schunk, Daniel D; Navarro, Arcadi A; Müller, Klaus-Robert KR

Publication Date: 2016-11-28

Variant appearance in text: rs3816587

PubMed Link: 27892471

Variant Present in the following documents:

• Main text
• srep36671.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs3816587

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

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Bayes factor based on the trend test incorporating Hardy-Weinberg disequilibrium: more power to detect genetic association.

Annals Of Human Genetics

Xu, Jinfeng J; Yuan, Ao A; Zheng, Gang G

Publication Date: 2012-07

Variant appearance in text: rs3816587

PubMed Link: 22607017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.

Bmc Proceedings

Bermejo, Justo Lorenzo JL; Fischer, Christine C; Schulz, Anke A; Cremer, Nadine N; Hein, Rebecca R; Beckmann, Lars L; Chang-Claude, Jenny J; Hemminki, Kari K

Publication Date: 2009-12-15

Variant appearance in text: rs3816587

PubMed Link: 20017963

Variant Present in the following documents:

• Main text
• 1753-6561-3-S7-S10.pdf

View BVdb publication page

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Rheumatoid arthritis association at 6q23.

Nature Genetics

Thomson, Wendy W; Barton, Anne A; Ke, Xiayi X; Eyre, Steve S; Hinks, Anne A; Bowes, John J; Donn, Rachelle R; Symmons, Deborah D; Hider, Samantha S; Bruce, Ian N IN; , ; Wilson, Anthony G AG; Marinou, Ioanna I; Morgan, Ann A; Emery, Paul P; , ; Carter, Angela A; Steer, Sophia S; Hocking, Lynne L; Reid, David M DM; Wordsworth, Paul P; Harrison, Pille P; Strachan, David D; Worthington, Jane J

Publication Date: 2007-12

Variant appearance in text: rs3816587

PubMed Link: 17982455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Nature

,

Publication Date: 2007-06-07

Variant appearance in text: rs3816587

PubMed Link: 17554300

Variant Present in the following documents:

• Main text

View BVdb publication page

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