Publications:

---

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: rs4468448

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: rs4468448

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs4468448

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Leukotriene B4 receptor locus gene characterisation and association studies in asthma.

Bmc Medical Genetics

Tulah, Asif S AS; Beghé, Bianca B; Barton, Sheila J SJ; Holloway, John W JW; Sayers, Ian I

Publication Date: 2012-11-20

Variant appearance in text: rs4468448

PubMed Link: 23167751

Variant Present in the following documents:

• Main text
• 1471-2350-13-110.pdf

View BVdb publication page

---

Leukotriene A4 hydrolase haplotype, diet and atherosclerosis: a twin study.

Atherosclerosis

Zhao, Jinying J; Goldberg, Jack J; Vaccarino, Viola V

Publication Date: 2013-01

Variant appearance in text: rs4468448

PubMed Link: 23153620

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of ALOX5AP, LTA4H and LTB4R polymorphisms in determining baseline lung function and COPD susceptibility in UK smokers.

Bmc Medical Genetics

Tulah, Asif S AS; Parker, Stuart G SG; Moffatt, Miriam F MF; Wardlaw, Andrew J AJ; Connolly, Martin J MJ; Sayers, Ian I

Publication Date: 2011-12-29

Variant appearance in text: rs4468448

PubMed Link: 22206291

Variant Present in the following documents:

• Main text
• 1471-2350-12-173.pdf

View BVdb publication page

---

Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights

Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK

Publication Date: 2009-07-30

Variant appearance in text: rs4468448

PubMed Link: 20401335

Variant Present in the following documents:

• Main text
• gei-2-2009-023.pdf

View BVdb publication page

---