Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HSD11B2: 623G>A; Arg208His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.

Journal Of Translational Medicine

Lu, Yi-Ting YT; Zhang, Di D; Zhang, Qiong-Yu QY; Zhou, Ze-Ming ZM; Yang, Kun-Qi KQ; Zhou, Xian-Liang XL; Peng, Fan F

Publication Date: 2022-11-03

Variant appearance in text: HSD11B2: R208H

PubMed Link: 36329487

Variant Present in the following documents:

• Main text

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HSD11B2: 623G>A; Arg208His; rs28934592

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP

Publication Date: 2021-01-25

Variant appearance in text: HSD11B2: 623G>A; Arg208His

PubMed Link: 31738409

Variant Present in the following documents:

• Main text
• gfz173.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: HSD11B2: 623G>A; Arg208His; rs28934592

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: HSD11B2: R208H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 46

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Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Yau, Mabel M; Haider, Shozeb S; Khattab, Ahmed A; Ling, Chen C; Mathew, Mehr M; Zaidi, Samir S; Bloch, Madison M; Patel, Monica M; Ewert, Sinead S; Abdullah, Wafa W; Toygar, Aysenur A; Mudryi, Vitalii V; Al Badi, Maryam M; Alzubdi, Mouch M; Wilson, Robert C RC; Al Azkawi, Hanan Said HS; Ozdemir, Hatice Nur HN; Abu-Amer, Wahid W; Hertecant, Jozef J; Razzaghy-Azar, Maryam M; Funder, John W JW; Al Senani, Aisha A; Sun, Li L; Kim, Se-Min SM; Yuen, Tony T; Zaidi, Mone M; New, Maria I MI

Publication Date: 2017-12-26

Variant appearance in text: HSD11B2: R208H

PubMed Link: 29229831

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: HSD11B2: 623G>A; R208H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: HSD11B2: R208H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.

Physiological Genomics

Manning, Jonathan R JR; Bailey, Matthew A MA; Soares, Dinesh C DC; Dunbar, Donald R DR; Mullins, John J JJ

Publication Date: 2010-08

Variant appearance in text: HSD11B2: R208H

PubMed Link: 20571110

Variant Present in the following documents:

• Main text

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