Publications:

Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: ORC6: 413C>A; P138Q; rs3218745

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

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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: rs3218745

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: ORC6: P138Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: ORC6: P138Q; rs3218745

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Journal Of Medical Genetics

Sharma, Manu M; Ioannidis, John P A JP; Aasly, Jan O JO; Annesi, Grazia G; Brice, Alexis A; Bertram, Lars L; Bozi, Maria M; Barcikowska, Maria M; Crosiers, David D; Clarke, Carl E CE; Facheris, Maurizio F MF; Farrer, Matthew M; Garraux, Gaetan G; Gispert, Suzana S; Auburger, Georg G; Vilariño-Güell, Carles C; Hadjigeorgiou, Georgios M GM; Hicks, Andrew A AA; Hattori, Nobutaka N; Jeon, Beom S BS; Jamrozik, Zygmunt Z; Krygowska-Wajs, Anna A; Lesage, Suzanne S; Lill, Christina M CM; Lin, Juei-Jueng JJ; Lynch, Timothy T; Lichtner, Peter P; Lang, Anthony E AE; Libioulle, Cecile C; Murata, Miho M; Mok, Vincent V; Jasinska-Myga, Barbara B; Mellick, George D GD; Morrison, Karen E KE; Meitnger, Thomas T; Zimprich, Alexander A; Opala, Grzegorz G; Pramstaller, Peter P PP; Pichler, Irene I; Park, Sung Sup SS; Quattrone, Aldo A; Rogaeva, Ekaterina E; Ross, Owen A OA; Stefanis, Leonidas L; Stockton, Joanne D JD; Satake, Wataru W; Silburn, Peter A PA; Strom, Tim M TM; Theuns, Jessie J; Tan, Eng-King EK; Toda, Tatsushi T; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Van Broeckhoven, Christine C; Wirdefeldt, Karin K; Wszolek, Zbigniew Z; Xiromerisiou, Georgia G; Yomono, Harumi S HS; Yueh, Kuo-Chu KC; Zhao, Yi Y; Gasser, Thomas T; Maraganore, Demetrius D; Krüger, Rejko R; ,

Publication Date: 2012-11

Variant appearance in text: rs3218745

PubMed Link: 23125461

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101155.pdf

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