Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir et autres
2 citationsThe American Journal of Human Genetics
Elizabeth C. Engle
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222Publications signalées
9719Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Ophthalmology and Eye DisordersCraniofacial Disorders and TreatmentsVestibular and auditory disordersOcular Disorders and TreatmentsAxon Guidance and Neuronal Signaling
Publications récentes
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L. Stenton, Vijay S Ganesh et autres
1 citationmedRxiv
Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus
Sarah MacKinnon, Rachael Zacks, Brenda Barry, David A. Mackey et autres
1 citationOphthalmology
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking
Weixiong He, Peter J. van der Most, Jue‐Sheng Ong, Liang‐Dar Hwang et autres
7 citationsNature Communications
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders
Konstantinia Almpani, Kate Devine, Denise K. Liberton, Rashmi Mishra et autres
0 citationsThe Cleft Palate-Craniofacial Journal
The Genetics of Strabismus and Associated Disorders
Mary C. Whitman, Gena Heidary, Elias I. Traboulsi, Elizabeth C. Engle
0 citations
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King, Emma E. Foster et autres
2 citationsPubMed
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang et autres
1 citationGenetics in Medicine Open
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai‐Man Chan et autres
11 citationsNature Communications
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
Julie A. Jurgens, Paola M. Matos Ruiz, Jessica King, Emma E. Foster et autres
2 citationsbioRxiv (Cold Spring Harbor Laboratory)
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon et autres
17 citationsGenetics in Medicine
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness
Denise K. Liberton, Konstantinia Almpani, Rashmi Mishra, Carol W. Bassim et autres
2 citationsInternational Journal of Environmental Research and Public Health
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