Publications:

---

Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.

Epigenetics & Chromatin

Salma, Mohammad M; Alaterre, Elina E; Moreaux, Jérôme J; Soler, Eric E

Publication Date: 2023-06-14

Variant appearance in text: SDHA: R465Q

PubMed Link: 37312221

Variant Present in the following documents:

• Main text
• 13072_2023_Article_497.pdf

View BVdb publication page

---

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: SDHA: R465Q

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

---

New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One

Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D

Publication Date: 2022

Variant appearance in text: SDHA: 1394G>A; Arg465Gln; rs138277996

PubMed Link: 36155654

Variant Present in the following documents:

• pone.0275121.s002.xlsx, sheet 2

View BVdb publication page

---

Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: SDHA: 1394G>A; Arg465Gln

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

---

Cellular and genetic drivers of RNA editing variation in the human brain.

Nature Communications

Cuddleston, Winston H WH; Li, Junhao J; Fan, Xuanjia X; Kozenkov, Alexey A; Lalli, Matthew M; Khalique, Shahrukh S; Dracheva, Stella S; Mukamel, Eran A EA; Breen, Michael S MS

Publication Date: 2022-05-30

Variant appearance in text: SDHA: 1394G>A; R465Q

PubMed Link: 35637184

Variant Present in the following documents:

• 41467_2022_30531_MOESM5_ESM.xlsx, sheet 3
• 41467_2022_30531_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: SDHA: 1394G>A

PubMed Link: 35441217

Variant Present in the following documents:

• hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 2

View BVdb publication page

---

Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Frontiers In Molecular Biosciences

Ke, Lixin L; Shen, Jianming J; Feng, Jikun J; Chen, Jialin J; Shen, Shunli S; Li, Shaoqiang S; Kuang, Ming M; Liang, Lijian L; Lu, Cuncun C; Li, Dongming D; He, Qiang Q; Peng, Baogang B; Hua, Yunpeng Y

Publication Date: 2021

Variant appearance in text: SDHA: 1394G>A; R465Q

PubMed Link: 35118119

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

---

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances

Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK

Publication Date: 2021-10-26

Variant appearance in text: SDHA: 1394G>A; Arg465Gln; rs138277996

PubMed Link: 34535012

Variant Present in the following documents:

• advancesADV2021004562-suppl2.xlsx, sheet 8

View BVdb publication page

---

The emerging clinical relevance of genomic profiling in neuroendocrine tumours.

Bmc Cancer

Burak, Guney Isa GI; Ozge, Sonmezler S; Cem, Mujde M; Gulgun, Buyukdereli B; Zeynep, Dogruca Yapar DY; Atil, Bisgin B

Publication Date: 2021-03-06

Variant appearance in text: SDHA: R465Q

PubMed Link: 33676450

Variant Present in the following documents:

• Main text
• 12885_2021_Article_7961.pdf

View BVdb publication page

---

A glioneuronal tumor with CLIP2-MET fusion.

Npj Genomic Medicine

Chowdhury, Tamrin T; Lee, Yeajina Y; Kim, Sojin S; Yu, Hyeon Jong HJ; Ji, So Young SY; Bae, Jeong Mo JM; Won, Jae Kyung JK; Shin, Joo Heon JH; Weinberger, Daniel R DR; Choi, Seung Hong SH; Park, Chul-Kee CK; Kim, Jong-Il JI; Park, Sung-Hye SH

Publication Date: 2020

Variant appearance in text: SDHA: R465Q; rs138277996

PubMed Link: 32550005

Variant Present in the following documents:

• 41525_2020_131_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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: SDHA: 1394G>A; Arg465Gln

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

---

Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: SDHA: R465Q; rs138277996

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Cell Reports

Roper, Nitin N; Gao, Shaojian S; Maity, Tapan K TK; Banday, A Rouf AR; Zhang, Xu X; Venugopalan, Abhilash A; Cultraro, Constance M CM; Patidar, Rajesh R; Sindiri, Sivasish S; Brown, Anna-Leigh AL; Goncearenco, Alexander A; Panchenko, Anna R AR; Biswas, Romi R; Thomas, Anish A; Rajan, Arun A; Carter, Corey A CA; Kleiner, David E DE; Hewitt, Stephen M SM; Khan, Javed J; Prokunina-Olsson, Ludmila L; Guha, Udayan U

Publication Date: 2019-03-05

Variant appearance in text: SDHA: R465Q

PubMed Link: 30840888

Variant Present in the following documents:

• NIHMS1523294-supplement-6.xlsx, sheet 8
• NIHMS1523294-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Molecular Genetics & Genomic Medicine

Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2019-03

Variant appearance in text: SDHA: R465Q; rs138277996

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na-s007.xlsx, sheet 2

View BVdb publication page

---

Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.

Clinical Epigenetics

Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM

Publication Date: 2019-01-07

Variant appearance in text: SDHA: 1394G>A; R465Q

PubMed Link: 30616628

Variant Present in the following documents:

• Main text
• 13148_2018_Article_594.pdf

View BVdb publication page

---

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: SDHA: 1394G>A; Arg465Gln

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SDHA: R465Q; rs138277996

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive immunoproteogenomic analyses of malignant pleural mesothelioma.

Jci Insight

Lee, Hyun-Sung HS; Jang, Hee-Jin HJ; Choi, Jong Min JM; Zhang, Jun J; de Rosen, Veronica Lenge VL; Wheeler, Thomas M TM; Lee, Ju-Seog JS; Tu, Thuydung T; Jindra, Peter T PT; Kerman, Ronald H RH; Jung, Sung Yun SY; Kheradmand, Farrah F; Sugarbaker, David J DJ; Burt, Bryan M BM

Publication Date: 2018-04-05

Variant appearance in text: SDHA: R465Q

PubMed Link: 29618661

Variant Present in the following documents:

• jciinsight-3-98575-s002.xlsx, sheet 1

View BVdb publication page

---

The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHA: 1394G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

---