Publications:

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs4647905

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs4647905

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs4647905

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs4647905

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

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: rs4647905

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Correlation between facial morphology and gene polymorphisms in the Uygur youth population.

Oncotarget

He, Huiyu H; Mi, Xue X; Zhang, Jiayu J; Zhang, Qin Q; Yao, Yuan Y; Zhang, Xu X; Xiao, Feng F; Zhao, Chunping C; Zheng, Shutao S

Publication Date: 2017-04-25

Variant appearance in text: rs4647905

PubMed Link: 28415752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of FGFR1 Variants to Craniofacial Variations in East Asians.

Plos One

Adel, Mohamed M; Yamaguchi, Tetsutaro T; Tomita, Daisuke D; Nakawaki, Takatoshi T; Kim, Yong-Il YI; Hikita, Yu Y; Haga, Shugo S; Takahashi, Masahiro M; Nadim, Mohamed A MA; Kawaguchi, Akira A; Isa, Mutsumi M; El-Kenany, Walid H WH; El-Kadi, Abbadi A AA; Park, Soo-Byung SB; Ishida, Hajime H; Maki, Koutaro K; Kimura, Ryosuke R

Publication Date: 2017

Variant appearance in text: rs4647905

PubMed Link: 28129408

Variant Present in the following documents:

• Main text
• pone.0170645.pdf

View BVdb publication page

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Detecting genetic association of common human facial morphological variation using high density 3D image registration.

Plos Computational Biology

Peng, Shouneng S; Tan, Jingze J; Hu, Sile S; Zhou, Hang H; Guo, Jing J; Jin, Li L; Tang, Kun K

Publication Date: 2013

Variant appearance in text: rs4647905

PubMed Link: 24339768

Variant Present in the following documents:

• Main text
• pcbi.1003375.pdf

View BVdb publication page

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs4647905

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5
• pone.0018158.s001.xls, sheet 2

View BVdb publication page

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Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.

The Journal Of Clinical Endocrinology And Metabolism

Gajdos, Zofia K Z ZK; Butler, Johannah L JL; Henderson, Katherine DeLellis KD; He, Chunyan C; Supelak, Pamela J PJ; Egyud, Matthew M; Price, Alkes A; Reich, David D; Clayton, Peter E PE; Le Marchand, Loic L; Hunter, David J DJ; Henderson, Brian E BE; Palmert, Mark R MR; Hirschhorn, Joel N JN

Publication Date: 2008-11

Variant appearance in text: rs4647905

PubMed Link: 18728166

Variant Present in the following documents:

• Main text

View BVdb publication page

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