Publications:

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: N/A

PubMed Link: 36755093

Variant Present in the following documents:

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Genome diversity in Ukraine.

Gigascience

Oleksyk, Taras K TK; Wolfsberger, Walter W WW; Weber, Alexandra M AM; Shchubelka, Khrystyna K; Oleksyk, Olga T OT; Levchuk, Olga O; Patrus, Alla A; Lazar, Nelya N; Castro-Marquez, Stephanie O SO; Hasynets, Yaroslava Y; Boldyzhar, Patricia P; Neymet, Mikhailo M; Urbanovych, Alina A; Stakhovska, Viktoriya V; Malyar, Kateryna K; Chervyakova, Svitlana S; Podoroha, Olena O; Kovalchuk, Natalia N; Rodriguez-Flores, Juan L JL; Zhou, Weichen W; Medley, Sarah S; Battistuzzi, Fabia F; Liu, Ryan R; Hou, Yong Y; Chen, Siru S; Yang, Huanming H; Yeager, Meredith M; Dean, Michael M; Mills, Ryan E RE; Smolanka, Volodymyr V

Publication Date: 2021-01-13

Variant appearance in text: rs13090

PubMed Link: 33438729

Variant Present in the following documents:

• giaa159_giga-d-20-00230_revision_1.pdf
• giaa159_giga-d-20-00230_original_submission.pdf

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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: rs13090

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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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: rs13090

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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