Publications:

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Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Frontiers In Immunology

Vignesh, Pandiarajan P; Rawat, Amit A; Kumrah, Rajni R; Singh, Ankita A; Gummadi, Anjani A; Sharma, Madhubala M; Kaur, Anit A; Nameirakpam, Johnson J; Jindal, Ankur A; Suri, Deepti D; Gupta, Anju A; Khadwal, Alka A; Saikia, Biman B; Minz, Ranjana Walker RW; Sharma, Kaushal K; Desai, Mukesh M; Taur, Prasad P; Gowri, Vijaya V; Pandrowala, Ambreen A; Dalvi, Aparna A; Jodhawat, Neha N; Kambli, Priyanka P; Madkaikar, Manisha Rajan MR; Bhattad, Sagar S; Ramprakash, Stalin S; Cp, Raghuram R; Jayaram, Ananthvikas A; Sivasankaran, Meena M; Munirathnam, Deenadayalan D; Balaji, Sarath S; Rajendran, Aruna A; Aggarwal, Amita A; Singh, Komal K; Na, Fouzia F; George, Biju B; Mehta, Ankit A; Lashkari, Harsha Prasada HP; Uppuluri, Ramya R; Raj, Revathi R; Bartakke, Sandip S; Gupta, Kirti K; Sreedharanunni, Sreejesh S; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Chan, Koon Wing KW; Leung, Daniel D; Ohara, Osamu O; Nonoyama, Shigeaki S; Hershfield, Michael M; Lau, Yu-Lung YL; Singh, Surjit S

Publication Date: 2020

Variant appearance in text: ADA: 301C>T; R101W

PubMed Link: 33628209

Variant Present in the following documents:

• Main text
• fimmu-11-619146.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ADA: 301C>T

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ADA: 301C>T; rs121908717

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research

Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: ADA: R101W; rs121908717

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: ADA: R101W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ADA: R101W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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