Publications:

Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases.

Journal Of Clinical Medicine

Wajda, Anna A; Sivitskaya, Larysa L; Paradowska-Gorycka, Agnieszka A

Publication Date: 2021-07-28

Variant appearance in text: rs758642073

PubMed Link: 34362117

Variant Present in the following documents:

• Main text
• jcm-10-03334.pdf

View BVdb publication page

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: NOTCH1: 2794G>A; Asp932Asn

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx, sheet 4
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

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Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.

Scientific Reports

Delgado-Vega, Angélica M AM; Martínez-Bueno, Manuel M; Oparina, Nina Y NY; López Herráez, David D; Kristjansdottir, Helga H; Steinsson, Kristján K; Kozyrev, Sergey V SV; Alarcón-Riquelme, Marta E ME

Publication Date: 2018-06-08

Variant appearance in text: NOTCH1: D932N; rs758642073

PubMed Link: 29884787

Variant Present in the following documents:

• Main text
• 41598_2018_26274_MOESM2_ESM.xls, sheet 4
• 41598_2018_Article_26274.pdf
• 41598_2018_26274_MOESM2_ESM.xls, sheet 2
• 41598_2018_26274_MOESM2_ESM.xls, sheet 3

View BVdb publication page