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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes

Sakthikumar, Sharadha ; Roy, Ananya ; Haseeb, Lulu ; Pettersson, Mats E ; Sundström, Elisabeth ; Marinescu, Voichita D ; Lindblad-Toh, Kerstin ; Forsberg-Nilsson, Karin

Genome Biology, 2020-06, Vol.21 (1), p.127-127, Article 127 [Periódico revisado por pares]

England: BioMed Central Ltd

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2
Phenotype of POLE-mutated endometrial cancer
Phenotype of POLE-mutated endometrial cancer
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Phenotype of POLE-mutated endometrial cancer

Imboden, Sara ; Nastic, Denis ; Ghaderi, Mehran ; Rydberg, Filippa ; Rau, Tilman T ; Mueller, Michael D ; Epstein, Elisabeth ; Carlson, Joseph W Toland, Amanda Ewart

PloS one, 2019-03, Vol.14 (3), p.e0214318-e0214318 [Periódico revisado por pares]

United States: Public Library of Science

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3
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
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Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

Elliott, Kerryn ; Boström, Martin ; Filges, Stefan ; Lindberg, Markus ; Van den Eynden, Jimmy ; Ståhlberg, Anders ; Clausen, Anders R ; Larsson, Erik Gordenin, Dmitry A.

PLoS genetics, 2018-12, Vol.14 (12), p.e1007849-e1007849 [Periódico revisado por pares]

United States: Public Library of Science

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4
Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex
Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex
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Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex

Merker, Matthias ; Kohl, Thomas A ; Barilar, Ivan ; Andres, Sönke ; Fowler, Philip W ; Chryssanthou, Erja ; Ängeby, Kristian ; Jureen, Pontus ; Moradigaravand, Danesh ; Parkhill, Julian ; Peacock, Sharon J ; Schön, Thomas ; Maurer, Florian P ; Walker, Timothy ; Köser, Claudio ; Niemann, Stefan

Genome medicine, 2020-03, Vol.12 (1), p.27-8, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
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PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

Okuyama, Kazuki ; Strid, Tobias ; Kuruvilla, Jacob ; Somasundaram, Rajesh ; Cristobal, Susana ; Smith, Emma ; Prasad, Mahadesh ; Fioretos, Thoas ; Lilljebjörn, Henrik ; Soneji, Shamit ; Lang, Stefan ; Ungerbäck, Jonas ; Sigvardsson, Mikael Yang, Jun J

PLoS genetics, 2019-08, Vol.15 (8), p.e1008280-e1008280 [Periódico revisado por pares]

United States: Public Library of Science

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6
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
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Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

Aguiar-Pulido, Vanessa ; Wolujewicz, Paul ; Martinez-Fundichely, Alexander ; Elhaik, Eran ; Thareja, Gaurav ; Abdel Aleem, Alice ; Chalhoub, Nader ; Cuykendall, Tawny ; Al-Zamer, Jamel ; Lei, Yunping ; El-Bashir, Haitham ; Musser, James M ; Al-Kaabi, Abdulla ; Shaw, Gary M ; Khurana, Ekta ; Suhre, Karsten ; Mason, Christopher E ; Elemento, Olivier ; Finnell, Richard H ; Ross, M Elizabeth

Proceedings of the National Academy of Sciences - PNAS, 2021-12, Vol.118 (51) [Periódico revisado por pares]

United States: National Academy of Sciences

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7
AS3MT-mediated tolerance to arsenic evolved by multiple independent horizontal gene transfers from bacteria to eukaryotes
AS3MT-mediated tolerance to arsenic evolved by multiple independent horizontal gene transfers from bacteria to eukaryotes
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AS3MT-mediated tolerance to arsenic evolved by multiple independent horizontal gene transfers from bacteria to eukaryotes

Palmgren, Michael ; Engström, Karin ; Hallström, Björn M ; Wahlberg, Karin ; Søndergaard, Dan Ariel ; Säll, Torbjörn ; Vahter, Marie ; Broberg, Karin Planet, Paul J.

PloS one, 2017-04, Vol.12 (4), p.e0175422 [Periódico revisado por pares]

United States: Public Library of Science

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8
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)
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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Eggermann, Thomas ; Elbracht, Miriam ; Kurth, Ingo ; Juul, Anders ; Johannsen, Trine Holm ; Netchine, Irène ; Johannsson, Gudmundur ; Zenker, Martin ; Prawitt, Dirk ; Pereira, Alberto M. ; Hiort, Olaf ; Riedl, Stefan ; Rami-Merhar, Birgit ; Vila, Greisa ; Baumgartner-Parzner, Sabina ; Bonfig, Walter ; Heinrichs, Claudine ; Maiter, Dominique ; Gies, Inge ; Cools, Martine ; Beckers, Albert ; Zacharieva, Sabina ; Iotova, Violeta ; Jukic, Tomislav ; Rahelic, Dario ; Neocleous, Vassos ; Phylactou, Leonidas ; Krsek, Michal ; Lebl, Jan ; Gravholt, Claus ; Tillmann, Vallo ; Volke, Vallo ; Ebeling, Tapani ; Brue, Thierry ; Rodien, Patrice ; Bertherat, Jérôme ; Bernert, Christine Poitou ; Touraine, Philippe ; Chanson, Philippe ; Polak, Michel ; Tauber, Maithe ; Eggermann, Thomas ; Spranger, Joachim ; Fuhrer, Dagmar ; Danne, Thomas ; Mohnike, Klaus ; Luster, Markus ; Reisch, Nicole ; Reincke, Martin ; Rohayem, Julia ; Fassnacht, Martin ; Tóth, Miklós ; Cassio, Alessandra ; Toni, Sonia ; Krausz, Csilla ; Piccini, Barbara ; Ferone, Diego ; Russo, Gianni ; Persani, Luca ; Colao, Annamaria ; Salerno, Mariacarolina ; Boscaro, Marco ; Scaroni, Carla ; Santini, Ferruccio ; Ceccarini, Giovanni ; Ghigo, Ezio ; Dzivite - Krisane, Iveta ; Rovite, Vita ; Janozola, Lauma ; Verkauskiene, Rasa ; Clark, James ; Romijn, Johannes ; Links, Thera ; Biermasz, Nienke ; Hannema, Sabine ; der Grinten, Hedi Claahsen-van ; Timmers, Henri ; Peeters, Robin ; Valk, Gerlof ; Stuart, A. A. Verrijn ; Haak, Harm ; Bollerslev, Jens ; Jarzab, Barbara ; ‘Szypowska, Agnieszka ; Raposo, João-Filipe ; Craiu, Dana ; Piciu, Doina ; Kostalova, Ludmila ; Battelino, Tadej ; Cardona-Hernandez, Roque ; Gaztambide, Sonia ; Nordenström, Anna ; Gittoes, Neil ; Cole, Trevor ; Crowne, Elizabeth ; Ahmed, Faisal ; Didi, Mohammed ; Dattani, Mehul ; Clayton, Peter ; Davies, Justin

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-144, Article 144 [Periódico revisado por pares]

London: BioMed Central Ltd

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9
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression
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MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression

Tomic, Tajana Tesan ; Olausson, Josefin ; Rehammar, Anna ; Deland, Lily ; Muth, Andreas ; Ejeskar, Katarina ; Nilsson, Staffan ; Kristiansson, Erik ; Wassen, Ola Nilsson ; Abel, Frida Wilkerson, Matthew D.

PLoS genetics, 2020-06, Vol.16 (6), p.e1008803 [Periódico revisado por pares]

San Francisco: Public Library of Science

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10
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
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Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

Eggermann, Thomas ; Davies, Justin H ; Tauber, Maithé ; van den Akker, Erica ; Hokken-Koelega, Anita ; Johansson, Gudmundur ; Netchine, Irène

Genes, 2021-04, Vol.12 (4), p.585 [Periódico revisado por pares]

Switzerland: MDPI AG

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