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: rs10839236

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: FOLH1: 1308+80G>A; rs10839236

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs10839236

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.pdf

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: rs10839236

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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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: rs10839236

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Folate-mediated one-carbon metabolism genes and interactions with nutritional factors on colorectal cancer risk: Women's Health Initiative Observational Study.

Cancer

Cheng, Ting-Yuan David TY; Makar, Karen W KW; Neuhouser, Marian L ML; Miller, Joshua W JW; Song, Xiaoling X; Brown, Elissa C EC; Beresford, Shirley A A SA; Zheng, Yingye Y; Poole, Elizabeth M EM; Galbraith, Rachel L RL; Duggan, David J DJ; Habermann, Nina N; Bailey, Lynn B LB; Maneval, David R DR; Caudill, Marie A MA; Toriola, Adetunji T AT; Green, Ralph R; Ulrich, Cornelia M CM

Publication Date: 2015-10-15

Variant appearance in text: rs10839236

PubMed Link: 26108676

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.

Genetic Epidemiology

Boyles, Abee L AL; Wilcox, Allen J AJ; Taylor, Jack A JA; Shi, Min M; Weinberg, Clarice R CR; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Johansen, Anne Marte W AM; Drevon, Christian A CA; Jugessur, Astanand A; Trung, Truc Nguyen TN; Gjessing, Håkon K HK; Vollset, Stein Emil SE; Murray, Jeffrey C JC; Christensen, Kaare K; Lie, Rolv T RT

Publication Date: 2009-04

Variant appearance in text: rs10839236

PubMed Link: 19048631

Variant Present in the following documents:

• Main text

View BVdb publication page

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