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: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs9352

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations.

Nutrients

Fedirko, Veronika V; Mandle, Hannah B HB; Zhu, Wanzhe W; Hughes, David J DJ; Siddiq, Afshan A; Ferrari, Pietro P; Romieu, Isabelle I; Riboli, Elio E; Bueno-de-Mesquita, Bas B; van Duijnhoven, Fränzel J B FJB; Siersema, Peter D PD; Tjønneland, Anne A; Olsen, Anja A; Perduca, Vittorio V; Carbonnel, Franck F; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Johnson, Theron T; Krasimira, Aleksandrova A; Trichopoulou, Antonia A; Makrythanasis, Periklis P; Thanos, Dimitris D; Panico, Salvatore S; Krogh, Vittorio V; Sacerdote, Carlotta C; Skeie, Guri G; Weiderpass, Elisabete E; Colorado-Yohar, Sandra S; Sala, Núria N; Barricarte, Aurelio A; Sanchez, Maria-Jose MJ; Quirós, Ramón R; Amiano, Pilar P; Gylling, Björn B; Harlid, Sophia S; Perez-Cornago, Aurora A; Heath, Alicia K AK; Tsilidis, Konstantinos K KK; Aune, Dagfinn D; Freisling, Heinz H; Murphy, Neil N; Gunter, Marc J MJ; Jenab, Mazda M

Publication Date: 2019-08-20

Variant appearance in text: rs9352

PubMed Link: 31434255

Variant Present in the following documents:

• Main text
• nutrients-11-01954.pdf

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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: rs9352

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs9352

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Chang, Jeffrey S JS; Yeh, Ru-Fang RF; Wiencke, John K JK; Wiemels, Joseph L JL; Smirnov, Ivan I; Pico, Alexander R AR; Tihan, Tarik T; Patoka, Joe J; Miike, Rei R; Sison, Jennette D JD; Rice, Terri T; Wrensch, Margaret R MR

Publication Date: 2008-06

Variant appearance in text: rs9352

PubMed Link: 18559551

Variant Present in the following documents:

• Main text

View BVdb publication page

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