Publications:

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: DISC1: E751Q

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Bladder Cancer (Amsterdam, Netherlands)

Hoffmann, Michèle J MJ; Koutsogiannouli, Evangelia E; Skowron, Margaretha A MA; Pinkerneil, Maria M; Niegisch, Günter G; Brandt, Artur A; Stepanow, Stefanie S; Rieder, Harald H; Schulz, Wolfgang A WA

Publication Date: 2016-10-27

Variant appearance in text: DISC1: E751Q; rs115112816

PubMed Link: 28035326

Variant Present in the following documents:

• blc-2-blc160065-s001.xlsx, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs115112816

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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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: DISC1: E751Q; rs115112816

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Molecular Psychiatry

Thomson, P A PA; Parla, J S JS; McRae, A F AF; Kramer, M M; Ramakrishnan, K K; Yao, J J; Soares, D C DC; McCarthy, S S; Morris, S W SW; Cardone, L L; Cass, S S; Ghiban, E E; Hennah, W W; Evans, K L KL; Rebolini, D D; Millar, J K JK; Harris, S E SE; Starr, J M JM; MacIntyre, D J DJ; , ; McIntosh, A M AM; Watson, J D JD; Deary, I J IJ; Visscher, P M PM; Blackwood, D H DH; McCombie, W R WR; Porteous, D J DJ

Publication Date: 2014-06

Variant appearance in text: DISC1: E751Q; rs115112816

PubMed Link: 23732877

Variant Present in the following documents:

• mp201368x3.pdf

View BVdb publication page

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Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Plos One

Moens, Lotte N LN; De Rijk, Peter P; Reumers, Joke J; Van den Bossche, Maarten J A MJ; Glassee, Wim W; De Zutter, Sonia S; Lenaerts, An-Sofie AS; Nordin, Annelie A; Nilsson, Lars-Göran LG; Medina Castello, Ignacio I; Norrback, Karl-Fredrik KF; Goossens, Dirk D; Van Steen, Kristel K; Adolfsson, Rolf R; Del-Favero, Jurgen J

Publication Date: 2011

Variant appearance in text: DISC1: E751Q

PubMed Link: 21853134

Variant Present in the following documents:

• Main text
• pone.0023450.s008.pdf
• pone.0023450.pdf

View BVdb publication page

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Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia.

Molecular Psychiatry

Mathieson, I I; Munafò, M R MR; Flint, J J

Publication Date: 2012-06

Variant appearance in text: DISC1: E751Q

PubMed Link: 21483435

Variant Present in the following documents:

• Main text

View BVdb publication page

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