Publications:

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The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update.

Biomedicines

Tiucă, Robert Aurelian RA; Tiucă, Oana Mirela OM; Pașcanu, Ionela Maria IM

Publication Date: 2023-04-02

Variant appearance in text: RET: L769L

PubMed Link: 37189693

Variant Present in the following documents:

• Main text
• biomedicines-11-01075.pdf

View BVdb publication page

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Genomic profiles of Indonesian colorectal cancer patients.

F1000Research

Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF

Publication Date: 2022

Variant appearance in text: RET: L769L

PubMed Link: 37125020

Variant Present in the following documents:

• Main text
• f1000research-11-144370.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: RET: L769L; rs1800861

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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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: RET: L769L

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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: RET: L769L; rs1800861

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: RET: Leu769Leu; rs1800861

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: RET: Leu769=; rs1800861

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Medullary Thyroid Carcinoma Mutational Spectrum Update and Signaling-Type Inference by Transcriptional Profiles: Literature Meta-Analysis and Study of Tumor Samples.

Cancers

Minna, Emanuela E; Romeo, Paola P; Dugo, Matteo M; De Cecco, Loris L; Aiello, Antonella A; Pistore, Federico F; Carenzo, Andrea A; Greco, Angela A; Borrello, Maria Grazia MG

Publication Date: 2022-04-13

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 35454858

Variant Present in the following documents:

• Main text
• cancers-14-01951.pdf

View BVdb publication page

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Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease's Patients?

Frontiers In Pediatrics

Iskandar, Kristy K; Simanjaya, Susan S; Indrawan, Taufik T; Kalim, Alvin Santoso AS; Marcellus, ; Heriyanto, Didik Setyo DS; Gunadi,

Publication Date: 2022

Variant appearance in text: rs1800861

PubMed Link: 35359901

Variant Present in the following documents:

• Main text
• fped-10-842820.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence.

Journal Of Oncology

Ran, Ran R; Tu, Gang G; Li, Hui H; Wang, Hao H; Mou, Exian E; Liu, Caiyang C

Publication Date: 2021

Variant appearance in text: rs1800861

PubMed Link: 34950210

Variant Present in the following documents:

• Main text
• JO2021-9967599.pdf

View BVdb publication page

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RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Journal Of Thyroid Research

Damavandi, Elia E; Vand-Rajabpour, Fatemeh F; Javadi-Arjmand, Maliheh M; Mohajeri Tehrani, Mohammad-Reza MR; Larijani, Bagher B; Kabuli, Majid M; Ghadami, Mohsen M

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34777782

Variant Present in the following documents:

View BVdb publication page

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Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma.

International Journal Of Molecular Sciences

Skalniak, Anna A; Trofimiuk-Müldner, Małgorzata M; Przybylik-Mazurek, Elwira E; Hubalewska-Dydejczyk, Alicja A

Publication Date: 2021-10-30

Variant appearance in text: RET: L769=; rs1800861

PubMed Link: 34769224

Variant Present in the following documents:

• Main text
• ijms-22-11794.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Bmc Cancer

Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Fang, Xu-Dong XD; Lian, Bi-Jun BJ; Li, Feng F; Wang, Hui-Hong HH; Cao, Zhi-Lie ZL; Zheng, Wei-Hui WH; Cao, Juan J; Chen, Yu Y

Publication Date: 2021-04-07

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: RET: Leu769Leu; rs1800861

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: RET: Leu769=; rs1800861

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33556149

Variant Present in the following documents:

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, 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: RET: L769L; rs1800861

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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A study on genetic polymorphism of RET proto-oncogene in Hirschsprung's disease in children.

African Journal Of Paediatric Surgery : Ajps

Kumari, Madhu M; Das, Chhanda C; Mukhopadhyay, Madhumita M; Patra, Rishav Dev RD; Mitra, Pradip Kumar PK; Mukhopadhyay, Biswanath B

Publication Date: 2020

Variant appearance in text: rs1800861

PubMed Link: 33342844

Variant Present in the following documents:

• AJPS-17-104.pdf

View BVdb publication page

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Current status of the prognostic molecular markers in medullary thyroid carcinoma.

Endocrine Connections

Oczko-Wojciechowska, Malgorzata M; Czarniecka, Agnieszka A; Gawlik, Tomasz T; Jarzab, Barbara B; Krajewska, Jolanta J

Publication Date: 2020-12

Variant appearance in text: RET: L769L

PubMed Link: 33112827

Variant Present in the following documents:

• Main text
• EC-20-0374.pdf

View BVdb publication page

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The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine

Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z

Publication Date: 2020-11

Variant appearance in text: RET: L769L

PubMed Link: 32989896

Variant Present in the following documents:

• JCMM-24-13163.pdf

View BVdb publication page

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Postmortem Examination of an Aggressive Case of Medullary Thyroid Carcinoma Characterized by Catastrophic Genomic Abnormalities.

Jco Precision Oncology

Das, Sudipto S; Kelly, Deirdre D; Moran, Bruce B; Han, Kathleen K; Mulligan, Niall N; Barrett, Ciara C; Buckley, Patrick G PG; McMahon, Peter P; McCaffrey, John J; Van Essen, Hendrik F HF; Connor, Kate K; Lambrechts, Diether D; Ylstra, Bauke B; Gallagher, William M WM; O'Connor, Darran P DP; Kelly, Catherine M CM

Publication Date: 2017

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32913965

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs1800861

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981.pdf

View BVdb publication page

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Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.

F1000Research

Butt, Ejaz E; Alyami, Sabra S; Nageeti, Tahani T; Saeed, Muhammad M; AlQuthami, Khalid K; Bouazzaoui, Abdellatif A; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Al-Allaf, Faisal F; Taher, Mohiuddin M

Publication Date: 2019

Variant appearance in text: RET: Leu769Leu; rs1800861

PubMed Link: 32612806

Variant Present in the following documents:

• Main text
• f1000research-8-27281.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Modulatory Role of Single Nucleotide Polymorphisms of Distinct Genetic Pathways on Clinical Behavior of Medullary Thyroid Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R

Publication Date: 2020-05-01

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32458635

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Frontiers In Endocrinology

Mathiesen, Jes Sloth JS; Nielsen, Søren Grønlund SG; Rasmussen, Åse Krogh ÅK; Kiss, Katalin K; Wadt, Karin K; Hermann, Anne Pernille AP; Nielsen, Morten Frost MF; Larsen, Stine Rosenkilde SR; Brusgaard, Klaus K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; Rossing, Maria M

Publication Date: 2020

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32411094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis.

International Medical Case Reports Journal

Jastania, Raid A RA; Saeed, Muhammad M; Al-Khalidi, Hisham H; AlQuthami, Khalid K; Nageeti, Tahani H TH; Al-Allaf, Faisal A FA; Valerie, Kristoffer K; Taher, Mohiuddin M MM

Publication Date: 2020

Variant appearance in text: RET: Leu769Leu; rs1800861

PubMed Link: 32368160

Variant Present in the following documents:

• Main text
• imcrj-13-123.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1800861

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: N/A

PubMed Link: 32277576

Variant Present in the following documents:

View BVdb publication page

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Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International

Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R

Publication Date: 2020

Variant appearance in text: RET: Leu769Leu

PubMed Link: 32090079

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)

Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL

Publication Date: 2019-12

Variant appearance in text: N/A

PubMed Link: 31896942

Variant Present in the following documents:

View BVdb publication page

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Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports

D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F

Publication Date: 2019-11-21

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 31754145

Variant Present in the following documents:

• 41598_2019_53660_MOESM1_ESM.pdf

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: RET: L769L

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: RET: Leu769=; rs1800861

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton.

Oncology Letters

Taher, Mohiuddin M MM; Hassan, Amal Ali AA; Saeed, Muhammad M; Jastania, Raid A RA; Nageeti, Tahani H TH; Alkhalidi, Hisham H; Dairi, Ghida G; Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Bouazzaoui, Abdellatif A; El-Bjeirami, Wafa M WM; Al-Allaf, Faisal A FA

Publication Date: 2019-11

Variant appearance in text: N/A

PubMed Link: 31612017

Variant Present in the following documents:

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: RET: L769L; rs1800861

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

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Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open

Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU

Publication Date: 2019

Variant appearance in text: rs1800861

PubMed Link: 31423333

Variant Present in the following documents:

• esmoopen-2018-000472supp001.pdf

View BVdb publication page

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Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Cancer Medicine

Mishra, Vasudha V; Kowtal, Pradnya P; Rane, Pallavi P; Sarin, Rajiv R

Publication Date: 2019-10

Variant appearance in text: N/A

PubMed Link: 31408923

Variant Present in the following documents:

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