Two cases of Temple–Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

Por Shen, Joseph J.
Publicado no Clin Dysmorphol (2015)

Type III Acetabular Defect Revision With Bilobed Components: Five-year Results

Por Moskal, Joseph T., Higgins, Michael E., Shen, Joseph
Publicado em 2008

Type III Acetabular Defect Revision With Bilobed Components: Five-year Results

Por Moskal, Joseph T., Higgins, Michael E., Shen, Joseph
Publicado em 2008

Computerized two-lead resting ECG analysis for the detection of coronary artery stenosis

Por Grube, Eberhard, Bootsveld, Andreas, Yuecel, Seyrani, Shen, Joseph T., Imhoff, Michael
Publicado em 2007

Computerized two-lead resting ECG analysis for the detection of coronary artery stenosis after coronary revascularization

Por Grube, Eberhard, Bootsveld, Andreas, Buellesfeld, Lutz, Yuecel, Seyrani, Shen, Joseph T, Imhoff, Michael
Publicado em 2008

Deficiency of Growth Differentiation Factor 3 Protects against Diet-Induced Obesity by Selectively Acting on White Adipose

Por Shen, Joseph J., Huang, Lihua, Li, Liunan, Jorgez, Carolina, Matzuk, Martin M., Brown, Chester W.
Publicado em 2009

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

Por Carvalho, Claudia M. B., Bartnik, Magdalena, Pehlivan, Davut, Fang, Ping, Shen, Joseph, Lupski, James R.
Publicado em 2011

Comparison of a Two-Lead, Computerized, Resting ECG Signal Analysis Device, the MultiFunction-CardioGram(sm) or MCG (a.k.a. 3DMP), to Quantitative Coronary Angiography for the Dete...

Por Strobeck, John E., Shen, Joseph T., Singh, Binoy, Obunai, Kotaro, Miceli, Charles, Sacher, Howard, Ritucci, Franz, Imhoff, Michael
Publicado em 2009

Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism

Por Li, Liunan, Shen, Joseph J., Bournat, Juan C., Huang, Lihua, Chattopadhyay, Abanti, Li, Zhihong, Shaw, Chad, Graham, Brett H., Brown, Chester W.
Publicado em 2009

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Por Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan, Lalani, Seema R, Stankiewicz, Pawel, Sutton, V Reid, Cheung, Sau Wai
Publicado em 2010

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Por Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Publicado no Eur J Hum Genet (2015)

Loss of Nardilysin, a mitochondrial co-chaperone for α-Ketoglutarate Dehydrogenase, promotes mTORC1 activation and neurodegeneration

Por Yoon, Wan Hee, Sandoval, Hector, Nagarkar-Jaiswal, Sonal, Jaiswal, Manish, Yamamoto, Shinya, Haelterman, Nele A., Putluri, Nagireddy, Putluri, Vasanta, Sreekumar, Arun, Tos, Tulay, Aksoy, Ayse, Donti, Taraka, Graham, Brett H., Ohno, Mikiko, Nishi, Eiichiro, Hunter, Jill, Muzny, Donna M., Carmichael, Jason, Shen, Joseph, Arboleda, Valerie A., Nelson, Stanley F., Wangler, Michael F., Karaca, Ender, Lupski, James R., Bellen, Hugo J.
Publicado no Neuron (2016)

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Por Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Publicado em 2009

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Por Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita
Publicado em 2008

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Por Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, Jian, Hauser, N., Zhang, T., Tasic, V., Liu, P., Su, X., Pan, X., Liu, C., Wang, L., Shen, Joseph, Shen, Jianxiong, Chen, Y., Zhang, T., Zhang, Jianguo, Choy, K.W., Wang, Jun, Wang, Q., Li, S., Zhou, W., Guo, J., Wang, Y., Zhang, C., Zhao, H., An, Y., Zhao, Y., Wang, Jiucun, Liu, Z., Zuo, Y., Tian, Y., Weng, X., Sutton, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G., Zhang, F.
Publicado no N Engl J Med (2015)