Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: rs329007

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs329007

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs329007

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Random survival forests identify pathways with polymorphisms predictive of survival in KRAS mutant and KRAS wild-type metastatic colorectal cancer patients.

Scientific Reports

Naseem, Madiha M; Cao, Shu S; Yang, Dongyun D; Millstein, Joshua J; Puccini, Alberto A; Loupakis, Fotios F; Stintzing, Sebastian S; Cremolini, Chiara C; Tokunaga, Ryuma R; Battaglin, Francesca F; Soni, Shivani S; Berger, Martin D MD; Barzi, Afsaneh A; Zhang, Wu W; Falcone, Alfredo A; Heinemann, Volker V; Lenz, Heinz-Josef HJ

Publication Date: 2021-06-09

Variant appearance in text: rs329007

PubMed Link: 34108518

Variant Present in the following documents:

• Main text
• 41598_2021_Article_91330.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: RALBP1: 1053+99G>A; rs329007

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: rs329007

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs329007

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3

View BVdb publication page

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Different treatment strategies and molecular features between right-sided and left-sided colon cancers.

World Journal Of Gastroenterology

Shen, Hong H; Yang, Jiao J; Huang, Qing Q; Jiang, Meng-Jie MJ; Tan, Yi-Nuo YN; Fu, Jian-Fei JF; Zhu, Li-Zhen LZ; Fang, Xue-Feng XF; Yuan, Ying Y

Publication Date: 2015-06-07

Variant appearance in text: rs329007

PubMed Link: 26074686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations in angiopoietin and pericyte pathways and clinical outcome in patients with resected colorectal liver metastases.

Cancer

Stremitzer, Stefan S; Zhang, Wu W; Yang, Dongyun D; Ning, Yan Y; Stintzing, Sebastian S; Sebio, Ana A; Sunakawa, Yu Y; Yamauchi, Shinichi S; Matsusaka, Satoshi S; El-Khoueiry, Rita R; Stift, Judith J; Wrba, Friedrich F; Gruenberger, Thomas T; Lenz, Heinz-Josef HJ

Publication Date: 2015-06-01

Variant appearance in text: rs329007

PubMed Link: 25690670

Variant Present in the following documents:

• Main text

View BVdb publication page

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