Publications:

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: HRNR: Q1078*

PubMed Link: 36652909

Variant Present in the following documents:

• mmc4.xlsx, sheet 7

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: HRNR: 3232C>T; Gln1078Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

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: HRNR: Q1078X; rs141950802

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: HRNR: 3232C>T; Q1078*; rs141950802

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Nature

Saleheen, Danish D; Natarajan, Pradeep P; Armean, Irina M IM; Zhao, Wei W; Rasheed, Asif A; Khetarpal, Sumeet A SA; Won, Hong-Hee HH; Karczewski, Konrad J KJ; O'Donnell-Luria, Anne H AH; Samocha, Kaitlin E KE; Weisburd, Benjamin B; Gupta, Namrata N; Zaidi, Mozzam M; Samuel, Maria M; Imran, Atif A; Abbas, Shahid S; Majeed, Faisal F; Ishaq, Madiha M; Akhtar, Saba S; Trindade, Kevin K; Mucksavage, Megan M; Qamar, Nadeem N; Zaman, Khan Shah KS; Yaqoob, Zia Z; Saghir, Tahir T; Rizvi, Syed Nadeem Hasan SNH; Memon, Anis A; Hayyat Mallick, Nadeem N; Ishaq, Mohammad M; Rasheed, Syed Zahed SZ; Memon, Fazal-Ur-Rehman FU; Mahmood, Khalid K; Ahmed, Naveeduddin N; Do, Ron R; Krauss, Ronald M RM; MacArthur, Daniel G DG; Gabriel, Stacey S; Lander, Eric S ES; Daly, Mark J MJ; Frossard, Philippe P; Danesh, John J; Rader, Daniel J DJ; Kathiresan, Sekar S

Publication Date: 2017-04-12

Variant appearance in text: HRNR: 3232C>T; Gln1078Ter

PubMed Link: 28406212

Variant Present in the following documents:

• NIHMS857566-supplement-Suppl__Table_1.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: HRNR: Q1078*; rs141950802

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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: HRNR: Q1078*; rs141950802

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2
• pone.0123569.s008.xls, sheet 6

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: HRNR: Q1078*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1
• NIHMS551112-supplement-5.xlsx, sheet 1

View BVdb publication page

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