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: rs2657878

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GLS2: 1449+50G>A; rs2657878

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: GLS2: 1449+50G>A; rs2657878

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

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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: GLS2: 1449+50G>A; rs2657878

PubMed Link: 30319441

Variant Present in the following documents:

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

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Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia.

Plos Genetics

Scott, William K WK; Medie, Felix Mba FM; Ruffin, Felicia F; Sharma-Kuinkel, Batu K BK; Cyr, Derek D DD; Guo, Shengru S; Dykxhoorn, Derek M DM; Skov, Robert L RL; Bruun, Niels E NE; Dahl, Anders A; Lerche, Christian J CJ; Petersen, Andreas A; Larsen, Anders Rhod AR; Lauridsen, Trine Kiilerich TK; Johansen, Helle Krogh HK; Ullum, Henrik H; Sørensen, Erik E; Hassager, Christian C; Bundgaard, Henning H; Schønheyder, Henrik C HC; Torp-Pedersen, Christian C; Østergaard, Louise Bruun LB; Arpi, Magnus M; Rosenvinge, Flemming F; Erikstrup, Lise T LT; Chehri, Mahtab M; Søgaard, Peter P; Andersen, Paal S PS; Fowler, Vance G VG

Publication Date: 2018-10

Variant appearance in text: rs2657878

PubMed Link: 30289878

Variant Present in the following documents:

• Main text
• pgen.1007667.pdf

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