Publications:

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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: SDHA: D38V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

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: SDHA: 113A>T; Asp38Val; rs34635677

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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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: SDHA: D38V

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: SDHA: 113A>T; Asp38Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 8

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SDHA: 113A>T; Asp38Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: SDHA: 113A>T; rs34635677

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: SDHA: D38V

PubMed Link: 29929473

Variant Present in the following documents:

• Main text
• 12881_2018_605_MOESM3_ESM.xlsx, sheet 3
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
• 12881_2018_605_MOESM3_ESM.xlsx, sheet 6
• 12881_2018_Article_605.pdf
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: SDHA: 113A>T; Asp38Val; rs34635677

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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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: 113A>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Endocrine-Related Cancer

Dumanski, Jan P JP; Rasi, Chiara C; Björklund, Peyman P; Davies, Hanna H; Ali, Abir S AS; Grönberg, Malin M; Welin, Staffan S; Sorbye, Halfdan H; Grønbæk, Henning H; Cunningham, Janet L JL; Forsberg, Lars A LA; Lind, Lars L; Ingelsson, Erik E; Stålberg, Peter P; Hellman, Per P; Tiensuu Janson, Eva E

Publication Date: 2017-08

Variant appearance in text: SDHA: Asp38Val; rs34635677

PubMed Link: 28634180

Variant Present in the following documents:

• Main text
• erc-24-427.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHA: 113A>T; Asp38Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Molecular Genetics & Genomic Medicine

Casey, Ruth T RT; Ascher, David B DB; Rattenberry, Eleanor E; Izatt, Louise L; Andrews, Katrina A KA; Simpson, Helen L HL; Challis, Benjamen B; Park, Soo-Mi SM; Bulusu, Venkata R VR; Lalloo, Fiona F; Pires, Douglas E V DEV; West, Hannah H; Clark, Graeme R GR; Smith, Philip S PS; Whitworth, James J; Papathomas, Thomas G TG; Taniere, Phillipe P; Savisaar, Rosina R; Hurst, Laurence D LD; Woodward, Emma R ER; Maher, Eamonn R ER

Publication Date: 2017-05

Variant appearance in text: SDHA: 113A>T; Asp38Val

PubMed Link: 28546994

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SDHA: D38V; rs34635677

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: rs34635677

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: SDHA: D38V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: SDHA: D38V; rs34635677

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: SDHA: 113A>T; D38V; rs34635677

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: SDHA: D38V

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SDHA: D38V; rs34635677

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

The International Journal Of Biochemistry & Cell Biology

Miettinen, Markku M; Lasota, Jerzy J

Publication Date: 2014-08

Variant appearance in text: SDHA: 113A>T; D38V

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

View BVdb publication page

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SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

Bmc Cancer

Italiano, Antoine A; Chen, Chun-Liang CL; Sung, Yun-Shao YS; Singer, Samuel S; DeMatteo, Ronald P RP; LaQuaglia, Michael P MP; Besmer, Peter P; Socci, Nicholas N; Antonescu, Cristina R CR

Publication Date: 2012-09-14

Variant appearance in text: SDHA: D38V

PubMed Link: 22974104

Variant Present in the following documents:

• Main text
• 1471-2407-12-408.pdf

View BVdb publication page

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