Mutations in X-linked PORCN , a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Van den Veyver, Ignatia B, Wang, Xiaoling, Reid Sutton, V, Omar Peraza-Llanes, J, Yu, Zhiyin, Rosetta, Rebecca, Kou, Ying-Chuck, Eble, Tanya N, Patel, Ankita, Thaller, Christina, Fang, Ping
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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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)
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Ophthalmologic findings in Aicardi syndrome
Fruhman, Gary, MD, Eble, Tanya N., MS, CGC, Gambhir, Nikki, MBChB, Sutton, V. Reid, MD, Van den Veyver, Ignatia B., MD, Lewis, Richard A., MD, MS
Published in Journal of AAPOS (01.06.2012)
Published in Journal of AAPOS (01.06.2012)
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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)
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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)
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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)
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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)
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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)
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A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1
Boulier, Kristin, Erwin, Deanna J., Nagamani, Sandesh, Eble, Tanya N.
Published in Clinical case reports (01.01.2019)
Published in Clinical case reports (01.01.2019)
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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)
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Journal Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4Mb interval that includes TBR1, TANK, and PSMD14
Burrage, Lindsay C, Eble, Tanya N, Hixson, Patricia M, Roney, Erin K, Cheung, Sau W, Franco, Luis M
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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Journal Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh C.S.
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
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Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood
Pal, Chandni V, Eble, Tanya N, Burnside, Rachel D, Bi, Weimin, Patel, Ankita, Franco, Luis M
Published in European journal of medical genetics (01.05.2014)
Published in European journal of medical genetics (01.05.2014)
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Journal Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14
Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Published in American journal of medical genetics. Part A (01.04.2013)
Published in American journal of medical genetics. Part A (01.04.2013)
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Journal Article
Non-random X chromosome inactivation in Aicardi syndrome
Eble, Tanya N, Sutton, V. Reid, Sangi-Haghpeykar, Haleh, Wang, Xiaoling, Jin, Weihong, Lewis, Richard A, Fang, Ping, Van den Veyver, Ignatia B
Published in Human genetics (01.03.2009)
Published in Human genetics (01.03.2009)
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