Elizabeth Carson Engle, MD

Neurology and Ophthalmology Childrens Hospital Boston, Harvard Medical School, Boston, MA, United States 
Developmental Neuroscience and Disease
"Elizabeth Engle"



Mean distance: 14.9 (cluster 24)
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Lee AS, Ayers LJ, Kosicki M, et al. (2023) A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences
Whitman MC, Gilette NM, Bell JL, et al. (2022) TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Developmental Biology
Natera-de Benito D, Jurgens JA, Yeung A, et al. (2022) Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human Mutation
Whitman MC, Barry BJ, Robson CD, et al. (2021) TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human Genetics
Jurgens JA, Barry BJ, Lemire G, et al. (2021) Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European Journal of Human Genetics : Ejhg
Al-Haddad C, Boustany RM, Rachid E, et al. (2020) KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Ophthalmic Genetics. 1-5
Tenney AP, Livet J, Belton T, et al. (2019) Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Reports. 29: 437-452.e4
Heidary G, Mackinnon S, Elliott A, et al. (2019) Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus
Patak J, Gilfert J, Byler M, et al. (2019) MAGEL2-Related Disorders: A study and case series. Clinical Genetics
Kruszka P, Hu T, Hong S, et al. (2019) Phenotype delineation of ZNF462 related syndrome. American Journal of Medical Genetics. Part A
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