Publications:

NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: LRP1: 7A>C; T3P

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs746500859

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: LRP1: 7A>C; T3P

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: LRP1: T3P

PubMed Link: 27249223

Variant Present in the following documents:

• Main text
• pone.0150079.pdf
• pone.0150079.s002.xlsx, sheet 1

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Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome.

Journal Of Translational Medicine

Johar, Angad S AS; Mastronardi, Claudio C; Rojas-Villarraga, Adriana A; Patel, Hardip R HR; Chuah, Aaron A; Peng, Kaiman K; Higgins, Angela A; Milburn, Peter P; Palmer, Stephanie S; Silva-Lara, Maria Fernanda MF; Velez, Jorge I JI; Andrews, Dan D; Field, Matthew M; Huttley, Gavin G; Goodnow, Chris C; Anaya, Juan-Manuel JM; Arcos-Burgos, Mauricio M

Publication Date: 2015-06-02

Variant appearance in text: LRP1: Thr3Pro

PubMed Link: 26031516

Variant Present in the following documents:

• Main text
• 12967_2015_Article_525.pdf

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