Publications:

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Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.

Children (Basel, Switzerland)

Gupta, Sonal S; Mathur, Praveen P; Mishra, Ashwani Kumar AK; Medicherla, Krishna Mohan KM; Bandapalli, Obul Reddy OR; Suravajhala, Prashanth P

Publication Date: 2023-05-19

Variant appearance in text: rs1141701

PubMed Link: 37238450

Variant Present in the following documents:

• children-10-00902.pdf

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: CDC27: Phe382Leu; rs1141701

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: CDC27: 1146T>G; F382L

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Anti-tumor activity of cetuximab plus avelumab in non-small cell lung cancer patients involves innate immunity activation: findings from the CAVE-Lung trial.

Journal Of Experimental & Clinical Cancer Research : Cr

Della Corte, Carminia Maria CM; Fasano, Morena M; Ciaramella, Vincenza V; Cimmino, Flora F; Cardnell, Robert R; Gay, Carl M CM; Ramkumar, Kavya K; Diao, Lixia L; Di Liello, Raimondo R; Viscardi, Giuseppe G; Famiglietti, Vincenzo V; Ciardiello, Davide D; Martini, Giulia G; Napolitano, Stefania S; Tuccillo, Concetta C; Troiani, Teresa T; Martinelli, Erika E; Wang, Jing J; Byers, Lauren L; Morgillo, Floriana F; Ciardiello, Fortunato F

Publication Date: 2022-03-26

Variant appearance in text: rs1141701

PubMed Link: 35346313

Variant Present in the following documents:

• 13046_2022_2332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: CDC27: F382L

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CDC27: 1146T>G; F382L; rs1141701

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Molecular Genetics & Genomic Medicine

Fontana, Laura L; Bedeschi, Maria F MF; Cagnoli, Giulia A GA; Costanza, Jole J; Persico, Nicola N; Gangi, Silvana S; Porro, Matteo M; Ajmone, Paola F PF; Colapietro, Patrizia P; Santaniello, Carlo C; Crippa, Milena M; Sirchia, Silvia M SM; Miozzo, Monica M; Tabano, Silvia S

Publication Date: 2020-09

Variant appearance in text: CDC27: F382L; rs1141701

PubMed Link: 32627967

Variant Present in the following documents:

• MGG3-8-e1386-s001.xlsx, sheet 3

View BVdb publication page

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KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Bmc Medical Genetics

Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B

Publication Date: 2020-06-26

Variant appearance in text: CDC27: F382L

PubMed Link: 32590954

Variant Present in the following documents:

• 12881_2020_1074_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: CDC27: F382L; rs1141701

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 12

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs1141701

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: CDC27: F382L

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 8
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 3
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 5
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 4
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 2
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 6
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 1
• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 7

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: rs1141701

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: CDC27: F382L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: CDC27: F382L; rs1141701

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 4
• pone.0123569.s008.xls, sheet 8
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 3
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 9
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: CDC27: F382L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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