Clinical and Mechanistic Insights Into the?Genetics of Cardiomyopathy

by Burke M.A., Cook S.A., Seidman J.G., Seidman C.E.
Published 2018

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

by Hinson J.T., Chopra A., Nafissi N., Polacheck W.J., Benson C.C., Swist S., Gorham J., Yang L., Schafer S., Sheng C.C., Haghighi A., Homsy J., Hubner N., Church G., Cook S.A., Linke W.A., Chen C.S., Seidman J.G., Seidman C.E.
Published 2019

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

by Fatkin D., Lam L., Herman D.S., Benson C.C., Felkin L.E., Barton P.J.R., Walsh R., Candan S., Ware J.S., Roberts A.M., Chung W.K., Smoot L., Bornaun H., Keogh A.M., Macdonald P.S., Hayward C.S., Seidman J.G., Roberts A.E., Cook S.A., Seidman C.E.
Published 2019

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

by Horvat C., Johnson R., Lam L., Munro J., Mazzarotto F., Roberts A.M., Herman D.S., Parfenov M., Haghighi A., McDonough B., DePalma S.R., Keogh A.M., Macdonald P.S., Hayward C.S., Roberts A., Barton P.J.R., Felkin L.E., Giannoulatou E., Cook S.A., Seidman J.G., Seidman C.E., Fatkin D.
Published 2018

Truncations of titin causing dilated cardiomyopathy

by Herman D.S., Lam L., Taylor M.R.G., Wang L., Teekakirikul P., Christodoulou D., Conner L., DePalma S.R., McDonough B., Sparks E., Teodorescu D.L., Cirino A.L., Banner N.R., Pennell D.J., Graw S., Merlo M., Di Lenarda A., Sinagra G., Bos J.M., Ackerman M.J., Mitchell R.N., Murry C.E., Lakdawala N.K., Ho C.Y., Barton P.J.R., Cook S.A., Mestroni L., Seidman J.G., Seidman C.E.
Published 2018

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

by Esslinger U., Garnier S., Korniat A., Proust C., Kararigas G., Müller-Nurasyid M., Empana J.-P., Morley M.P., Perret C., Stark K., Bick A.G., Prasad S.K., Kriebel J., Li J., Tiret L., Strauch K., O'Regan D.P., Marguiles K.B., Seidman J.G., Boutouyrie P., Lacolley P., Jouven X., Hengstenberg C., Komajda M., Hakonarson H., Isnard R., Arbustini E., Grallert H., Cook S.A., Seidman C.E., Regitz-Zagrosek V., Cappola T.P., Charron P., Cambien F., Villard E.
Published 2019

Shared genetic predisposition in Peripartum and dilated cardiomyopathies

by Ware J.S., Li J., Mazaika E., Yasso C.M., De Souza T., Cappola T.P., Tsai E.J., Hilfiker-Kleiner D., Kamiya C.A., Mazzarotto F., Cook S.A., Halder I., Prasad S.K., Pisarcik J., Hanley-Yanez K., Alharethi R., Damp J., Hsich E., Elkayam U., Sheppard R., Kealey A., Alexis J., Ramani G., Safirstein J., Boehmer J., Pauly D.F., Wittstein I.S., Thohan V., Zucker M.J., Liu P., Gorcsan J., III, McNamara D.M., Seidman C.E., Seidman J.G., Arany Z.
Published 2019

Titin-truncating variants affect heart function in disease cohorts and the general population

by Schafer S., De Marvao A., Adami E., Fiedler L.R., Ng B., Khin E., Rackham O.J.L., Van Heesch S., Pua C.J., Kui M., Walsh R., Tayal U., Prasad S.K., Dawes T.J.W., Ko N.S.J., Sim D., Chan L.L.H., Chin C.W.L., Mazzarotto F., Barton P.J., Kreuchwig F., De Kleijn D.P.V., Totman T., Biffi C., Tee N., Rueckert D., Schneider V., Faber A., Regitz-Zagrosek V., Seidman J.G., Seidman C.E., Linke W.A., Kovalik J.-P., O'Regan D., Ware J.S., Hubner N., Cook S.A.
Published 2019

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

by Roberts A.M., Ware J.S., Herman D.S., Schafer S., Baksi J., Bick A.G., Buchan R.J., Walsh R., John S., Wilkinson S., Mazzarotto F., Felkin L.E., Gong S., Macarthur J.A.L., Cunningham F., Flannick J., Gabriel S.B., Altshuler D.M., MacDonald P.S., Heinig M., Keogh A.M., Hayward C.S., Banner N.R., Pennell D.J., O'Regan D.P., San T.R., De Marvao A., Dawes T.J.W., Gulati A., Birks E.J., Yacoub M.H., Radke M., Gotthardt M., Wilson J.G., O'Donnell C.J., Prasad S.K., Barton P.J.R., Fatkin D., Hubner N., Seidman J.G., Seidman C.E., Cook S.A.
Published 2019

IL-11 is a crucial determinant of cardiovascular fibrosis

by Schafer S., Viswanathan S., Widjaja A.A., Lim W.-W., Moreno-Moral A., DeLaughter D.M., Ng B., Patone G., Chow K., Khin E., Tan J., Chothani S.P., Ye L., Rackham O.J.L., Ko N.S.J., Sahib N.E., Pua C.J., Zhen N.T.G., Xie C., Wang M., Maatz H., Lim S., Saar K., Blachut S., Petretto E., Schmidt S., Putoczki T., Guimarães-Camboa N., Wakimoto H., Van Heesch S., Sigmundsson K., Lim S.L., Soon J.L., Chao V.T.T., Chua Y.L., Tan T.E., Evans S.M., Loh Y.J., Jamal M.H., Ong K.K., Chua K.C., Ong B.-H., Chakaramakkil M.J., Seidman J.G., Seidman C.E., Hubner N., Sin K.Y.K., Cook S.A.
Published 2019