Concepedia
Statistics
Publications
16
Citations
717
H-Index
14
Active since
2005
Affiliations
Baylor College of Medicine(Current)
Baylor Genetics
Texas A&M University
Texas Children's Hospital
University of New Mexico
Tanya N. Eble is an author at Baylor College of Medicine specializing in genetics, life sciences, and medical genetics.
Publications per year
2005–2020
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
Xiaoling Wang, V. Reid Sutton, J Omar Peraza-Llanes et al. · Nature Genetics · 2007 · 280 citations
Life Sciences, Genetics, Molecular Genetics +14
Facial and physical features of Aicardi syndrome: Infants to teenagers
V. Reid Sutton, Bobbi Hopkins, Tanya N. Eble et al. · American Journal of Medical Genetics Part A · 2005 · 72 citations
Medicine, Genetics, Pediatrics +15
Phenotype and Management of Aicardi Syndrome: New Findings from a Survey of 69 Children
Margaret A. K. Glasmacher, V. Reid Sutton, Bobbi Hopkins et al. · Journal of Child Neurology · 2007 · 51 citations · Full text
Medicine, Neurology, Pediatrics +14
Ophthalmologic findings in Aicardi syndrome
Gary Fruhman, Tanya N. Eble, Nikki Gambhir et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 2012 · 40 citations · Full text
Medicine, Cardiology, Ophthalmology +11
De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizures
Nurit Assia Batzir, Pranjali Bhagwat, Tanya N. Eble et al. · Molecular Case Studies · 2019 · 35 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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