Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: POMC: 641A>G; Glu214Gly; rs80326661

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: POMC: E214G; rs80326661

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.

Genes

Ginete, Catarina C; Serrasqueiro, Bernardo B; Silva-Nunes, José J; Veiga, Luísa L; Brito, Miguel M

Publication Date: 2021-04-19

Variant appearance in text: POMC: 641A>G; Glu214Gly; rs80326661

PubMed Link: 33921825

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: POMC: E214G; rs80326661

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

The Journal Of Clinical Endocrinology And Metabolism

Ayers, Kristin L KL; Glicksberg, Benjamin S BS; Garfield, Alastair S AS; Longerich, Simonne S; White, Joseph A JA; Yang, Pengwei P; Du, Lei L; Chittenden, Thomas W TW; Gulcher, Jeffery R JR; Roy, Sophie S; Fiedorek, Fred F; Gottesdiener, Keith K; Cohen, Sarah S; North, Kari E KE; Schadt, Eric E EE; Li, Shuyu D SD; Chen, Rong R; Van der Ploeg, Lex H T LHT

Publication Date: 2018-07-01

Variant appearance in text: ACTH: 641A>G; rs80326661

PubMed Link: 29726959

Variant Present in the following documents:

• jc.2018-00258.sd1.pdf
• jc.2018-00258.st1.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: POMC: E214G; rs80326661

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: rs80326661

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: POMC: E214G

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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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: POMC: E214G; rs80326661

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: POMC: E214G

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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Identification of POMC exonic variants associated with substance dependence and body mass index.

Plos One

Wang, Fan F; Gelernter, Joel J; Kranzler, Henry R HR; Zhang, Huiping H

Publication Date: 2012

Variant appearance in text: POMC: E214G; rs80326661

PubMed Link: 23028917

Variant Present in the following documents:

• Main text
• pone.0045300.pdf

View BVdb publication page

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Medical sequencing at the extremes of human body mass.

American Journal Of Human Genetics

Ahituv, Nadav N; Kavaslar, Nihan N; Schackwitz, Wendy W; Ustaszewska, Anna A; Martin, Joel J; Hebert, Sybil S; Doelle, Heather H; Ersoy, Baran B; Kryukov, Gregory G; Schmidt, Steffen S; Yosef, Nir N; Ruppin, Eytan E; Sharan, Roded R; Vaisse, Christian C; Sunyaev, Shamil S; Dent, Robert R; Cohen, Jonathan J; McPherson, Ruth R; Pennacchio, Len A LA

Publication Date: 2007-04

Variant appearance in text: POMC: E214G

PubMed Link: 17357083

Variant Present in the following documents:

• Main text

View BVdb publication page

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