Publications:

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: LYST: 10235G>A; Arg3412His; rs148409403

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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Intravenous administration of anakinra in children with macrophage activation syndrome.

Pediatric Rheumatology Online Journal

Phadke, Omkar O; Rouster-Stevens, Kelly K; Giannopoulos, Helen H; Chandrakasan, Shanmuganathan S; Prahalad, Sampath S

Publication Date: 2021-06-29

Variant appearance in text: LYST: R3412H

PubMed Link: 34187503

Variant Present in the following documents:

• Main text
• 12969_2021_Article_585.pdf

View BVdb publication page

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Loss of human ICOSL results in combined immunodeficiency.

The Journal Of Experimental Medicine

Roussel, Lucie L; Landekic, Marija M; Golizeh, Makan M; Gavino, Christina C; Zhong, Ming-Chao MC; Chen, Jun J; Faubert, Denis D; Blanchet-Cohen, Alexis A; Dansereau, Luc L; Parent, Marc-Antoine MA; Marin, Sonia S; Luo, Julia J; Le, Catherine C; Ford, Brinley R BR; Langelier, Mélanie M; King, Irah L IL; Divangahi, Maziar M; Foulkes, William D WD; Veillette, André A; Vinh, Donald C DC

Publication Date: 2018-12-03

Variant appearance in text: LYST: R3412H; rs148409403

PubMed Link: 30498080

Variant Present in the following documents:

• JEM_20180668_TableS1.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: LYST: 10235G>A; R3412H; rs148409403

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: LYST: R3412H; rs148409403

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Frontiers In Immunology

Gallo, Vera V; Dotta, Laura L; Giardino, Giuliana G; Cirillo, Emilia E; Lougaris, Vassilios V; D'Assante, Roberta R; Prandini, Alberto A; Consolini, Rita R; Farrow, Emily G EG; Thiffault, Isabelle I; Saunders, Carol J CJ; Leonardi, Antonio A; Plebani, Alessandro A; Badolato, Raffaele R; Pignata, Claudio C

Publication Date: 2016

Variant appearance in text: LYST: 10235G>A; Arg3412His

PubMed Link: 27872624

Variant Present in the following documents:

• fimmu-07-00466.pdf

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: LYST: R3412H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: LYST: R3412H; rs148409403

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: LYST: R3412H; rs148409403

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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