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: rs1330684

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: ENG: 1687-117G>A; rs1330684

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: ENG: 1687-117G>A; rs1330684

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Orphanet Journal Of Rare Diseases

Giraud, Sophie S; Bardel, Claire C; Dupuis-Girod, Sophie S; Carette, Marie-France MF; Gilbert-Dussardier, Brigitte B; Riviere, Sophie S; Saurin, Jean-Christophe JC; Eyries, Mélanie M; Patri, Sylvie S; Decullier, Evelyne E; Calender, Alain A; Lesca, Gaëtan G

Publication Date: 2020-09-22

Variant appearance in text: rs1330684

PubMed Link: 32962750

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1533.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs1330684

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: ENG: 1687-117G>A; rs1330684

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1330684

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genes involved with folate uptake and distribution and their association with colorectal cancer risk.

Cancer Causes & Control : Ccc

Figueiredo, Jane C JC; Levine, A Joan AJ; Lee, Won H WH; Conti, David V DV; Poynter, Jenny N JN; Campbell, Peter T PT; Duggan, David D; Lewinger, Juan Pablo JP; Martinez, Maria Elena ME; Ulrich, Cornelia M CM; Newcomb, Polly P; Potter, John J; Limburg, Paul J PJ; Hopper, John J; Jenkins, Mark A MA; Le Marchand, Loic L; Baron, John A JA; Haile, Robert W RW

Publication Date: 2010-04

Variant appearance in text: rs1330684

PubMed Link: 20037791

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Stroke

Santiago-Sim, Teresa T; Mathew-Joseph, Sumy S; Pannu, Hariyadarshi H; Milewicz, Dianna M DM; Seidman, Christine E CE; Seidman, J G JG; Kim, Dong H DH

Publication Date: 2009-05

Variant appearance in text: rs1330684

PubMed Link: 19299629

Variant Present in the following documents:

• Main text

View BVdb publication page

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