Common Iliac Artery Aneurysm and Spontaneous Dissection with Contralateral Iatrogenic Common Iliac Artery Dissection in Classic Ehlers–Danlos Syndrome

par Mehta, Sachin, Dhar, Shweta U., Birnbaum, Yochai
Publié 2012

Quality improvement of clinic flow for complex genetic conditions: Using Ehlers–Danlos syndrome as a model

par Prakash, Preeti, Eble, Tanya N., Dhar, Shweta U.
Publié dans Mol Genet Genomic Med (2018)

Tetrasomy 13q Mosaicism Associated With Phylloid Hypomelanosis and Precocious Puberty

par Dhar, Shweta U., Robbins-Furman, Patricia, Levy, Moise L., Patel, Ankita, Scaglia, Fernando
Publié 2009

WDR35 Mutation in Siblings with Sensenbrenner Syndrome: A Ciliopathy With Variable Phenotype

par Bacino, Carlos A., Dhar, Shweta U., Brunetti-Pierri, Nicola, Lee, Brendan, Bonnen, Penelope E.
Publié 2012

The Practice of Adult Genetics: A 7-Year Experience From a Single Center

par Eble, Tanya N., Nagamani, Sandesh C.S., Franco, Luis M., Plon, Sharon E., Blazo, Maria, Dhar, Shweta U.
Publié dans Am J Med Genet A (2012)

Psychometric Properties of the POAGTS: A Tool for Understanding Parents’ Perceptions Regarding Autism Spectrum Disorder Genetic Testing

par Zhao, Shixi, Chen, Wei-Ju, Kwok, Oi-Man, Dhar, Shweta U., Eble, Tanya N., Tseng, Tung-Sung, Chen, Lei-Shih
Publié dans Int J Environ Res Public Health (2021)

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

par Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.
Publié dans Cold Spring Harb Mol Case Stud (2019)

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

par Machol, Keren, Jankovic, Joseph, Vijayakumar, Dhanya, Burrage, Lindsay C., Jain, Mahim, Lewis, Richard A., Fuller, Gregory N., Xu, Mingchu, Penas-Prado, Marta, Gule-Monroe, Maria K., Rosenfeld, Jill A., Chen, Rui, Eng, Christine M., Yang, Yaping, Lee, Brendan H., Moretti, Paolo M., Dhar, Shweta U.
Publié dans Neurol Genet (2018)

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

par Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P. J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin
Publié 2011

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

par Guo, Hui, Bettella, Elisa, Marcogliese, Paul C., Zhao, Rongjuan, Andrews, Jonathan C., Nowakowski, Tomasz J., Gillentine, Madelyn A., Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein H., van Bon, Bregje W., Rinne, Tuula, Stevens, Servi J. C., Kleefstra, Tjitske, Brunner, Han G., Yntema, Helger G., Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles E., Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta U., Erwin, Deanna J., Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Herman, Kristin, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy B., Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather C., Muir, Alison M., Scheffer, Ingrid E., Regan, Brigid M., Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan M., Waisfisz, Quinten, Bijlsma, Emilia K., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Sartori, Stefano, Xia, Fan, Rosenfeld, Jill A., Bernier, Raphael A., Wangler, Michael F., Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander P. A., Bellen, Hugo J., Murgia, Alessandra, Eichler, Evan E.
Publié dans Nat Commun (2019)