Publications:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: FBN1: 5224+111A>G; rs9806595

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: FBN1: 5224+111A>G; rs9806595

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics

Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR

Publication Date: 2020-11

Variant appearance in text: rs9806595

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.

Communications Biology

Fan, Qiao Q; Pozarickij, Alfred A; Tan, Nicholas Y Q NYQ; Guo, Xiaobo X; Verhoeven, Virginie J M VJM; Vitart, Veronique V; Guggenheim, Jeremy A JA; Miyake, Masahiro M; Tideman, J Willem L JWL; Khawaja, Anthony P AP; Zhang, Liang L; MacGregor, Stuart S; Höhn, René R; Chen, Peng P; Biino, Ginevra G; Wedenoja, Juho J; Saffari, Seyed Ehsan SE; Tedja, Milly S MS; Xie, Jing J; Lanca, Carla C; Wang, Ya Xing YX; Sahebjada, Srujana S; Mazur, Johanna J; Mirshahi, Alireza A; Martin, Nicholas G NG; Yazar, Seyhan S; Pennell, Craig E CE; Yap, Maurice M; Haarman, Annechien E G AEG; Enthoven, Clair A CA; Polling, JanRoelof J; , ; , ; Hewitt, Alex W AW; Jaddoe, Vincent W V VWV; van Duijn, Cornelia M CM; Hayward, Caroline C; Polasek, Ozren O; Tai, E-Shyong ES; Yoshikatsu, Hosoda H; Hysi, Pirro G PG; Young, Terri L TL; Tsujikawa, Akitaka A; Wang, Jie Jing JJ; Mitchell, Paul P; Pfeiffer, Norbert N; Pärssinen, Olavi O; Foster, Paul J PJ; Fossarello, Maurizio M; Yip, Shea Ping SP; Williams, Cathy C; Hammond, Christopher J CJ; Jonas, Jost B JB; He, Mingguang M; Mackey, David A DA; Wong, Tien-Yin TY; Klaver, Caroline C W CCW; Saw, Seang-Mei SM; Baird, Paul N PN; Cheng, Ching-Yu CY

Publication Date: 2020-03-19

Variant appearance in text: rs9806595

PubMed Link: 32193507

Variant Present in the following documents:

• Main text

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FBN1: 5224+111A>G; rs9806595

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs9806595

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Molecular Medicine Reports

Ma, Mingjia M; Li, Zongzhe Z; Wang, Dao Wen DW; Wei, Xiang X

Publication Date: 2016-07

Variant appearance in text: rs9806595

PubMed Link: 27175573

Variant Present in the following documents:

• Main text
• mmr-14-01-0151.pdf

View BVdb publication page

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Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

International Journal Of Clinical And Experimental Medicine

Jaradat, Saied A SA; Abujamous, Lama A LA; Al-Hawamdeh, Ali A AA; Alawneh, Khaldoon M KM; Rawashdeh, Tamara A TA; Jaradat, Zaher M ZM

Publication Date: 2015

Variant appearance in text: FBN1: 5224+111A>G

PubMed Link: 26770496

Variant Present in the following documents:

• Main text

View BVdb publication page

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