Publications:

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications

Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Karaminejadranjbar, Mohammad M; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA

Publication Date: 2020-02-21

Variant appearance in text: CYBB: D447V

PubMed Link: 32081864

Variant Present in the following documents:

• 41467_2019_14275_MOESM1_ESM.pdf

View BVdb publication page

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications

Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Carrami, Eli M EM; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA

Publication Date: 2020-02-21

Variant appearance in text: CYBB: D447V

PubMed Link: 32081864

Variant Present in the following documents:

• 41467_2019_14275_MOESM1_ESM.pdf

View BVdb publication page

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CYBB: D447V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page