The Impact of Genetic Diagnosis on Clinical Management of Patients with Congenital Heart Disease: Cilia Point the Way

nork Brueckner, Martina
Argitaratua izan da Circulation (2012)

Genetics and Genomics of Congenital Heart Disease

nork Zaidi, Samir, Brueckner, Martina
Argitaratua izan da Circ Res (2017)

Nup98 sets the size-exclusion diffusion limit through the ciliary base

nork Endicott, S. Joseph, Brueckner, Martina
Argitaratua izan da Curr Biol (2018)

The Genetics of Congenital Heart Disease…Understanding and Improving Long Term Outcomes in Congenital Heart Disease: A Review for the General Cardiologist and Primary Care Physicia...

nork Simmons, M. Abigail, Brueckner, Martina
Argitaratua izan da Curr Opin Pediatr (2017)

Monocilia in the embryonic mouse heart imply a direct role for cilia in cardiac morphogenesis

nork Slough, Jennifer, Cooney, Laura, Brueckner, Martina
Argitaratua 2008

Congenital Heart Disease: emerging themes linking genetics and development

nork Yuan, Shiaulou, Zaidi, Samir, Brueckner, Martina
Argitaratua 2013

Intraciliary calcium oscillations initiate vertebrate left-right asymmetry

nork Yuan, Shiaulou, Zhao, Lu, Brueckner, Martina, Sun, Zhaoxia
Argitaratua izan da Curr Biol (2015)

The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry

nork Endicott, S. Joseph, Basu, Basudha, Khokha, Mustafa, Brueckner, Martina
Argitaratua izan da Development (2015)

Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice

nork Supp, Dorothy M., Witte, David P., Potter, S. Steven, Brueckner, Martina
Argitaratua 1997

RFX2 is essential in the Ciliated Organ of Asymmetry and an RFX2 transgene identifies a population of ciliated cells sufficient for fluid flow

nork Bisgrove, Brent W., Makova, Svetlana, Yost, H. Joseph, Brueckner, Martina
Argitaratua 2011

De novo damaging variants associated with congenital heart diseases contribute to the connectome

nork Ji, Weizhen, Ferdman, Dina, Copel, Joshua, Scheinost, Dustin, Shabanova, Veronika, Brueckner, Martina, Khokha, Mustafa K., Ment, Laura R.
Argitaratua izan da Sci Rep (2020)

The Heterotaxy gene, GALNT11, glycosylates Notch to orchestrate cilia type and laterality

nork Boskovski, Marko T., Yuan, Shiaulou, Pedersen, Nis Borbye, Goth, Christoffer Knak, Makova, Svetlana, Clausen, Henrik, Brueckner, Martina, Khokha, Mustafa K.
Argitaratua 2013

Molecular Genetics and Complex Inheritance of Congenital Heart Disease

nork Diab, Nicholas S., Barish, Syndi, Dong, Weilai, Zhao, Shujuan, Allington, Garrett, Yu, Xiaobing, Kahle, Kristopher T., Brueckner, Martina, Jin, Sheng Chih
Argitaratua izan da Genes (Basel) (2021)

Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries

nork Supp, Dorothy M., Brueckner, Martina, Kuehn, Michael R., Witte, David P., Lowe, Linda A., McGrath, James, Corrales, JoMichelle, Potter, S. Steven
Argitaratua 1999

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

nork Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina
Argitaratua 2011

CANOES: detecting rare copy number variants from whole exome sequencing data

nork Backenroth, Daniel, Homsy, Jason, Murillo, Laura R., Glessner, Joe, Lin, Edwin, Brueckner, Martina, Lifton, Richard, Goldmuntz, Elizabeth, Chung, Wendy K., Shen, Yufeng
Argitaratua 2014

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

nork Robson, Andrew, Makova, Svetlana Z., Barish, Syndi, Zaidi, Samir, Mehta, Sameet, Drozd, Jeffrey, Jin, Sheng Chih, Gelb, Bruce D., Seidman, Christine E., Chung, Wendy K., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina
Argitaratua izan da Proc Natl Acad Sci U S A (2019)

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

nork Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K., Garg, Vidu, Lacro, Ronald V., McGuire, Amy L., Mital, Seema, Priest, James R., Pu, William T., Roberts, Amy, Ware, Stephanie M., Gelb, Bruce D., Russell, Mark W.
Argitaratua izan da Circulation (2018)

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

nork Manheimer, Kathryn B., Patel, Nihir, Richter, Felix, Gorham, Joshua, Tai, Angela C., Homsy, Jason, Boskovski, Marko T., Parfenov, Michael, Goldmuntz, Elizabeth, Chung, Wendy K., Brueckner, Martina, Tristani-Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G., Seidman, Christine E., Gelb, Bruce D., Sharp, Andrew J.
Argitaratua izan da Hum Mutat (2018)

The Congenital Heart Disease Genetic Network Study: Cohort description

nork Hoang, Thanh T., Goldmuntz, Elizabeth, Roberts, Amy E., Chung, Wendy K., Kline, Jennie K., Deanfield, John E., Giardini, Alessandro, Aleman, Adolfo, Gelb, Bruce D., Mac Neal, Meghan, Porter, George A., Kim, Richard, Brueckner, Martina, Lifton, Richard P., Edman, Sharon, Woyciechowski, Stacy, Mitchell, Laura E., Agopian, A. J.
Argitaratua izan da PLoS One (2018)