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

le Prakash, Preeti, Eble, Tanya N., Dhar, Shweta U.
Foilsithe in Mol Genet Genomic Med (2018)

A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1

le Boulier, Kristin, Erwin, Deanna J., Nagamani, Sandesh, Eble, Tanya N.
Foilsithe in Clin Case Rep (2018)

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood

le Pal, Chandni V., Eble, Tanya N., Burnside, Rachel D., Bi, Weimin, Patel, Ankita, Franco, Luis M.
Foilsithe in Eur J Med Genet (2014)

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

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

Ophthalmologic findings in Aicardi syndrome

le Fruhman, Gary, Eble, Tanya N., Gambhir, Nikki, Sutton, V. Reid, Van den Veyver, Ignatia B., Lewis, Richard A.
Foilsithe 2012

A Mosaic 2q24.2 Deletion Narrows the Critical Region to a 0.4 Mb Interval That Includes TBR1, TANK, and PSMD14

le Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Foilsithe in Am J Med Genet A (2013)

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

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

Non-random X chromosome inactivation in Aicardi syndrome

le Eble, Tanya N., Sutton, V. Reid, Sangi-Haghpeykar, Haleh, Wang, Xiaoling, Jin, Weihong, Lewis, Richard A., Fang, Ping, Van den Veyver, Ignatia B.
Foilsithe 2009

Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome

le 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 CS.
Foilsithe in Am J Med Genet A (2015)

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

le 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.
Foilsithe in Cold Spring Harb Mol Case Stud (2019)