Publications:

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: P399L; rs1554818362

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Plos Genetics

Kuil, Laura E LE; MacKenzie, Katherine C KC; Tang, Clara S CS; Windster, Jonathan D JD; Le, Thuy Linh TL; Karim, Anwarul A; de Graaf, Bianca M BM; van der Helm, Robert R; van Bever, Yolande Y; Sloots, Cornelius E J CEJ; Meeussen, Conny C; Tibboel, Dick D; de Klein, Annelies A; Wijnen, René M H RMH; Amiel, Jeanne J; Lyonnet, Stanislas S; Garcia-Barcelo, Maria-Mercè MM; Tam, Paul K H PKH; Alves, Maria M MM; Brooks, Alice S AS; Hofstra, Robert M W RMW; Brosens, Erwin E

Publication Date: 2021-08

Variant appearance in text: RET: 1196C>T

PubMed Link: 34358225

Variant Present in the following documents:

• Main text
• pgen.1009698.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RET: 1196C>T; P399L

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The advances of genetics research on Hirschsprung's disease.

Pediatric Investigation

Ke, Juntao J; Zhu, Ying Y; Miao, Xiaoping X

Publication Date: 2018-09

Variant appearance in text: RET: 1196C>T; P399L

PubMed Link: 32851260

Variant Present in the following documents:

• Main text
• PED4-2-189.pdf

View BVdb publication page

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Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Orphanet Journal Of Rare Diseases

Lantieri, Francesca F; Gimelli, Stefania S; Viaggi, Chiara C; Stathaki, Elissavet E; Malacarne, Michela M; Santamaria, Giuseppe G; Grossi, Alice A; Mosconi, Manuela M; Sloan-Béna, Frédérique F; Prato, Alessio Pini AP; Coviello, Domenico D; Ceccherini, Isabella I

Publication Date: 2019-11-25

Variant appearance in text: RET: P399L

PubMed Link: 31767031

Variant Present in the following documents:

• 13023_2019_Article_1205.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: HSCR1: P399L

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: RET: P399L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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