Publications:

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Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.

European Journal Of Pediatrics

Luo, Xi X; Zhao, Min M; Chen, Cheng C; Lin, Fengji F; Li, Xiaodong X; Huang, Haiyun H; Dou, Lei L; Feng, Jinxing J; Xiao, Shanqiu S; Liu, Dong D; He, Junli J; Yu, Jialin J

Publication Date: 2023-02-09

Variant appearance in text: rs10857795

PubMed Link: 36757497

Variant Present in the following documents:

• 431_2022_4779_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs10857795

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Metabolic enzyme gene polymorphisms predict the effects of antioxidant treatment on idiopathic male infertility.

Asian Journal Of Andrology

Zhang, Hong-Yan HY; Mu, Yi Y; Chen, Pan P; Liu, Dong-Dong DD; Chen, Ke-Hang KH; Yu, Qi Q; He, Jun J; Sun, Fa F; Xing, Jun-Ping JP; Tang, Kai-Fa KF

Publication Date: 2022

Variant appearance in text: rs10857795

PubMed Link: 34806654

Variant Present in the following documents:

• Main text
• AJA-24-430.pdf

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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: rs10857795

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs10857795

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs10857795

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: rs10857795

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs10857795

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2019-04

Variant appearance in text: rs10857795

PubMed Link: 29445914

Variant Present in the following documents:

• Main text

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: rs10857795

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Interactions between dietary acrylamide intake and genes for ovarian cancer risk.

European Journal Of Epidemiology

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2017-05

Variant appearance in text: rs10857795

PubMed Link: 28391539

Variant Present in the following documents:

• Main text
• 10654_2017_Article_244.pdf

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The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk.

Scientific Reports

Hogervorst, Janneke G F JG; van den Brandt, Piet A PA; Godschalk, Roger W L RW; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2016-10-07

Variant appearance in text: rs10857795

PubMed Link: 27713515

Variant Present in the following documents:

• Main text

View BVdb publication page

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