Publications:

GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: FBN1: 139G>A; Gly47Ser; rs762400500

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

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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: FBN1: 139G>A; G47R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: FBN1: 139G>A

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

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Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.

Scientific Reports

Stuchlý, Jan J; Kanderová, Veronika V; Vlková, Marcela M; Heřmanová, Ivana I; Slámová, Lucie L; Pelák, Ondřej O; Taraldsrud, Eli E; Jílek, Dalibor D; Králíc Ková, Pavlína P; Fevang, Børre B; Trková, Marie M; Hrušák, Ondřej O; Froňková, Eva E; Šedivá, Anna A; Litzman, Jiří J; Kalina, Tomáš T

Publication Date: 2017-01-05

Variant appearance in text: FBN1: G47S

PubMed Link: 28054583

Variant Present in the following documents:

• Main text
• srep39710.pdf

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