Publications:

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: DNMT3A: L422L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: DNMT3A: L422L

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: DNMT3A: Leu422Leu

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

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Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.

Haematologica

Daniele, Giulia G; Simonetti, Giorgia G; Fusilli, Caterina C; Iacobucci, Ilaria I; Lonoce, Angelo A; Palazzo, Antonio A; Lomiento, Mariana M; Mammoli, Fabiana F; Marsano, Renè Massimiliano RM; Marasco, Elena E; Mantovani, Vilma V; Quentmeier, Hilmar H; Drexler, Hans G HG; Ding, Jie J; Palumbo, Orazio O; Carella, Massimo M; Nadarajah, Niroshan N; Perricone, Margherita M; Ottaviani, Emanuela E; Baldazzi, Carmen C; Testoni, Nicoletta N; Papayannidis, Cristina C; Ferrari, Sergio S; Mazza, Tommaso T; Martinelli, Giovanni G; Storlazzi, Clelia Tiziana CT

Publication Date: 2017-07

Variant appearance in text: DNMT3A: L422L

PubMed Link: 28411256

Variant Present in the following documents:

• 1021204.pdf

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Evaluation of DNMT3A genetic polymorphisms as outcome predictors in AML patients.

Oncotarget

Yuan, Xiao-Qing XQ; Zhang, Dao-Yu DY; Yan, Han H; Yang, Yong-Long YL; Zhu, Ke-Wei KW; Chen, Yan-Hong YH; Li, Xi X; Yin, Ji-Ye JY; Li, Xiao-Lin XL; Zeng, Hui H; Chen, Xiao-Ping XP

Publication Date: 2016-09-13

Variant appearance in text: DNMT3A: Leu422Leu

PubMed Link: 27528035

Variant Present in the following documents:

• Main text

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