De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
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
Published in Cold Spring Harbor molecular case studies (01.06.2019)
Published in Cold Spring Harbor molecular case studies (01.06.2019)
Get full text
Journal Article
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes
Glinton, Kevin E., Potocki, Lorraine, Dhar, Shweta U.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
Get full text
Journal Article
Cranio‐meta‐diaphyseal dysplasia: 25 year follow‐up and review of literature
Dhar, Shweta U., Taylor, Terry, Trinh, Charles, Sutton, Vernon R.
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
Get full text
Journal Article
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, 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
Published in Cell (16.09.2011)
Published in Cell (16.09.2011)
Get full text
Journal Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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.
Published in Nature communications (15.10.2019)
Published in Nature communications (15.10.2019)
Get full text
Journal Article
Financial barriers in a county genetics clinic: Problems and solutions
Erwin, Deanna J., LaMaire, Christina, Espana, Alex, Eble, Tanya N., Dhar, Shweta U.
Published in Journal of genetic counseling (01.08.2020)
Published in Journal of genetic counseling (01.08.2020)
Get full text
Journal Article
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O’Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema, Rosenfeld, Jill A., Burrage, Lindsay C.
Published in Human genetics (01.03.2024)
Published in Human genetics (01.03.2024)
Get full text
Journal Article
Autism genetic testing information needs among parents of affected children: A qualitative study
Li, Ming, Amuta, Ann, Xu, Lei, Dhar, Shweta U, Talwar, Divya, Jung, Eunju, Chen, Lei-Shih
Published in Patient education and counseling (01.06.2016)
Published in Patient education and counseling (01.06.2016)
Get full text
Journal Article
Development and evaluation of a genomics training program for community health workers in Texas
Chen, Lei-Shih, Zhao, Shixi, Stelzig, Donaji, Dhar, Shweta U, Eble, Tanya, Yeh, Yu-Chen, Kwok, Oi-Man
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
Get full text
Journal Article
Family Health History–Based Cancer Prevention Training for Community Health Workers
Chen, Wei-Ju, Zhao, Shixi, Stelzig, Donaji, Nimmons, Katharine M., Dhar, Shweta U., Eble, Tanya N., Martinez, Denise, Yeh, Yu-Lyu, Chen, Lei-Shih
Published in American journal of preventive medicine (01.03.2021)
Published in American journal of preventive medicine (01.03.2021)
Get full text
Journal Article
Genetic testing and cancer risk management recommendations by physicians for at-risk relatives
Plon, Sharon E., Cooper, H. Paul, Parks, Bethany, Dhar, Shweta U., Kelly, P. Adam, Weinberg, Armin D., Staggs, Stephanie, Wang, Tao, Hilsenbeck, Susan
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
Get full text
Journal Article
Pursuing genetic testing for children with autism spectrum disorders: What do parents think?
Zhao, Shixi, Chen, Wei‐Ju, Dhar, Shweta U., Eble, Tanya N., Kwok, Oi‐Man, Chen, Lei‐Shih
Published in Journal of genetic counseling (01.04.2021)
Published in Journal of genetic counseling (01.04.2021)
Get full text
Journal Article
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
Get full text
Journal Article
Psychometric Properties of the POAGTS: A Tool for Understanding Parents' Perceptions Regarding Autism Spectrum Disorder Genetic Testing
Zhao, Shixi, Chen, Wei-Ju, Kwok, Oi-Man, Dhar, Shweta U, Eble, Tanya N, Tseng, Tung-Sung, Chen, Lei-Shih
Published in International journal of environmental research and public health (23.03.2021)
Published in International journal of environmental research and public health (23.03.2021)
Get full text
Journal Article
Prevalence of pathogenic germline variants in adult-type diffuse glioma
McDonald, Malcolm F, Prather, Lyndsey L, Helfer, Cassandra R, Ludmir, Ethan B, Echeverria, Alfredo E, Yust-Katz, Shlomit, Patel, Akash J, Deneen, Benjamin, Rao, Ganesh, Jalali, Ali, Dhar, Shweta U, Amos, Chris I, Mandel, Jacob J
Published in Neuro-oncology practice (01.10.2023)
Published in Neuro-oncology practice (01.10.2023)
Get full text
Journal Article
Texas health educators' practice in basic genomics education and services
Chen, Lei-Shih, Zhao, Shixi, Yeh, Yu-Lyu, Eble, Tanya N, Dhar, Shweta U, Kwok, Oi-Man
Published in Personalized medicine (01.01.2021)
Published in Personalized medicine (01.01.2021)
Get more information
Journal Article