| Year |
Citation |
Score |
| 2023 |
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, ... ... Engle EC, et al. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences. PMID 38234731 DOI: 10.1101/2023.12.22.23300468 |
0.465 |
|
| 2022 |
Whitman MC, Gilette NM, Bell JL, Kim S, Tischfield M, Engle EC. TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse. Developmental Biology. PMID 35944701 DOI: 10.1016/j.ydbio.2022.07.010 |
0.346 |
|
| 2022 |
Natera-de Benito D, Jurgens JA, Yeung A, Zaharieva IT, Manzur A, DiTroia SP, Di Gioia SA, Pais L, Pini V, Barry BJ, Chan WM, Elder JE, Christodoulou J, Hay E, England EM, ... ... Engle EC, et al. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human Mutation. PMID 35077597 DOI: 10.1002/humu.24333 |
0.378 |
|
| 2021 |
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, ... ... Engle EC, et al. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human Genetics. PMID 34652576 DOI: 10.1007/s00439-021-02379-9 |
0.358 |
|
| 2021 |
Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, O'Donnell-Luria A, MacArthur DG, ... ... Engle EC, et al. 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. PMID 33649541 DOI: 10.1038/s41431-020-00804-7 |
0.306 |
|
| 2020 |
Al-Haddad C, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle E. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. Ophthalmic Genetics. 1-5. PMID 33251926 DOI: 10.1080/13816810.2020.1852576 |
0.349 |
|
| 2019 |
Tenney AP, Livet J, Belton T, Prochazkova M, Pearson EM, Whitman MC, Kulkarni AB, Engle EC, Henderson CE. Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development. Cell Reports. 29: 437-452.e4. PMID 31597102 DOI: 10.1016/J.Celrep.2019.08.078 |
0.366 |
|
| 2019 |
Heidary G, Mackinnon S, Elliott A, Barry BJ, Engle EC, Hunter DG. 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. PMID 31541710 DOI: 10.1016/J.Jaapos.2019.05.018 |
0.351 |
|
| 2019 |
Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross LA, Amudhavalli SM, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, ... ... Engle EC, et al. MAGEL2-Related Disorders: A study and case series. Clinical Genetics. PMID 31397880 DOI: 10.1111/Cge.13620 |
0.326 |
|
| 2019 |
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, ... ... Engle EC, et al. Phenotype delineation of ZNF462 related syndrome. American Journal of Medical Genetics. Part A. PMID 31361404 DOI: 10.1002/Ajmg.A.61306 |
0.386 |
|
| 2019 |
Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I. Congenital monocular elevation deficiency associated with a novel gene variant. The British Journal of Ophthalmology. PMID 31302631 DOI: 10.1136/Bjophthalmol-2019-314293 |
0.357 |
|
| 2019 |
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, et al. The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31263216 DOI: 10.1038/S41436-019-0595-X |
0.405 |
|
| 2019 |
Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC. Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. Human Molecular Genetics. PMID 31211835 DOI: 10.1093/Hmg/Ddz137 |
0.348 |
|
| 2019 |
Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, ... ... Engle EC, et al. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation. PMID 31206972 DOI: 10.1002/Humu.23841 |
0.337 |
|
| 2019 |
An D, Fujiki R, Iannitelli DE, Smerdon JW, Maity S, Rose MF, Gelber A, Wanaselja EK, Yagudayeva I, Lee JY, Vogel C, Wichterle H, Engle EC, Mazzoni EO. Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons. Elife. 8. PMID 31157617 DOI: 10.7554/Elife.44423 |
0.468 |
|
| 2019 |
An D, Fujiki R, Iannitelli DE, Smerdon JW, Maity S, Rose MF, Gelber A, Wanaselja EK, Yagudayeva I, Lee JY, Vogel C, Wichterle H, Engle EC, Mazzoni EO. Author response: Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons Elife. DOI: 10.7554/Elife.44423.026 |
0.453 |
|
| 2018 |
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, ... ... Engle EC, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019 |
0.387 |
|
| 2018 |
Whitman MC, Nguyen EH, Bell JL, Tenney AP, Gelber A, Engle EC. Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis. Investigative Ophthalmology & Visual Science. 59: 5201-5209. PMID 30372748 DOI: 10.1167/Iovs.18-25190 |
0.344 |
|
| 2018 |
Di Gioia SA, Shaaban S, Tüysüz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. American Journal of Human Genetics. PMID 29887215 DOI: 10.1016/J.Ajhg.2018.05.003 |
0.431 |
|
| 2017 |
Marsh AP, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome. Human Mutation. PMID 29068161 DOI: 10.1002/Humu.23361 |
0.446 |
|
| 2017 |
Tischfield MA, Robson CD, Gilette NM, Chim SM, Sofela FA, DeLisle MM, Gelber A, Barry BJ, MacKinnon S, Dagi LR, Nathans J, Engle EC. Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Developmental Cell. PMID 28844842 DOI: 10.1016/J.Devcel.2017.07.027 |
0.312 |
|
| 2017 |
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, et al. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. American Journal of Medical Genetics. Part A. PMID 28777491 DOI: 10.1002/Ajmg.A.38375 |
0.399 |
|
| 2017 |
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, ... ... Engle EC, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications. 8: 16077. PMID 28681861 DOI: 10.1038/Ncomms16077 |
0.594 |
|
| 2017 |
Whitman MC, Engle EC. Ocular Congenital Cranial Dysinnervation Disorders (CCDDs): Insights into Axon Growth and Guidance. Human Molecular Genetics. PMID 28459979 DOI: 10.1093/Hmg/Ddx168 |
0.447 |
|
| 2017 |
Michalak SM, Whitman MC, Park JG, Tischfield MA, Nguyen EH, Engle EC. Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle. Investigative Ophthalmology & Visual Science. 58: 2388-2396. PMID 28437527 DOI: 10.1167/Iovs.16-21268 |
0.361 |
|
| 2017 |
Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan WM, Cheng L, Engle EC. Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. The Journal of Clinical Investigation. PMID 28346224 DOI: 10.1172/Jci88502 |
0.349 |
|
| 2017 |
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, ... ... Engle EC, et al. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nature Genetics. PMID 28250456 DOI: 10.1038/Ng.3804 |
0.408 |
|
| 2016 |
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. American Journal of Human Genetics. PMID 27181683 DOI: 10.1016/J.Ajhg.2016.03.023 |
0.458 |
|
| 2016 |
Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. American Journal of Medical Genetics. Part A. PMID 26887912 DOI: 10.1002/Ajmg.A.37595 |
0.621 |
|
| 2015 |
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. American Journal of Medical Genetics. Part A. PMID 26639658 DOI: 10.1002/Ajmg.A.37362 |
0.45 |
|
| 2015 |
Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E473-7. PMID 25559402 DOI: 10.1210/Jc.2014-4107 |
0.447 |
|
| 2015 |
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Menkes disease in affected females: the clinical disease spectrum. American Journal of Medical Genetics. Part A. 167: 417-20. PMID 25428120 DOI: 10.1002/Ajmg.A.36853 |
0.303 |
|
| 2014 |
Khan AO, Almutlaq M, Oystreck DT, Engle EC, Abu-Amero K, Bosley T. Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. Ophthalmic Genetics. 1-7. PMID 24940936 DOI: 10.3109/13816810.2014.926942 |
0.462 |
|
| 2014 |
Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, ... Engle EC, et al. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 82: 334-49. PMID 24656932 DOI: 10.1016/J.Neuron.2014.02.038 |
0.407 |
|
| 2014 |
MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 121: 1461-8. PMID 24612975 DOI: 10.1016/J.Ophtha.2014.01.006 |
0.447 |
|
| 2014 |
Irahara K, Saito Y, Sugai K, Nakagawa E, Saito T, Komaki H, Nakata Y, Sato N, Baba K, Yamamoto T, Chan WM, Andrews C, Engle EC, Sasaki M. Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome. Pediatric Neurology. 50: 384-8. PMID 24507697 DOI: 10.1016/J.Pediatrneurol.2013.12.013 |
0.38 |
|
| 2014 |
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. European Journal of Human Genetics : Ejhg. 22: 344-9. PMID 23942204 DOI: 10.1038/Ejhg.2013.162 |
0.424 |
|
| 2014 |
Shaaban S, Duzcan F, Yildirim C, Chan WM, Andrews C, Akarsu NA, Engle EC. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes. Clinical Genetics. 85: 562-7. PMID 23808592 DOI: 10.1111/Cge.12224 |
0.426 |
|
| 2013 |
Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clinical Case Reports. 1. PMID 24416505 DOI: 10.1002/Ccr3.11 |
0.379 |
|
| 2013 |
Graeber CP, Hunter DG, Engle EC. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Seminars in Ophthalmology. 28: 427-37. PMID 24138051 DOI: 10.3109/08820538.2013.825288 |
0.4 |
|
| 2013 |
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. Jama Ophthalmology. 131: 1532-40. PMID 24091937 DOI: 10.1001/Jamaophthalmol.2013.4392 |
0.658 |
|
| 2013 |
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, ... ... Engle EC, et al. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a Journal of Neurology. 136: 522-35. PMID 23378218 DOI: 10.1093/Brain/Aws345 |
0.494 |
|
| 2013 |
Mackinnon SE, Oystreck DT, Andrews CV, Engle EC, Hunter DG. Diagnostic ophthalmologic findings in Moebius syndrome Journal of Aapos. 17. DOI: 10.1016/J.Jaapos.2012.12.082 |
0.323 |
|
| 2012 |
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics. 21: 5484-99. PMID 23001566 DOI: 10.1093/Hmg/Dds393 |
0.402 |
|
| 2012 |
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, ... Engle EC, et al. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American Journal of Human Genetics. 91: 171-9. PMID 22770981 DOI: 10.1016/J.Ajhg.2012.05.018 |
0.362 |
|
| 2012 |
Desai J, Velo MP, Yamada K, Overman LM, Engle EC. Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Gene Expression Patterns : Gep. 12: 180-8. PMID 22465342 DOI: 10.1016/J.Gep.2012.03.003 |
0.443 |
|
| 2012 |
Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Current Opinion in Neurobiology. 22: 837-43. PMID 22398400 DOI: 10.1016/J.Conb.2012.02.006 |
0.351 |
|
| 2012 |
Högen T, Chan WM, Riedel E, Brüning R, Chang HH, Engle EC, Danek A. Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration? Journal of Neurology. 259: 761-3. PMID 21947222 DOI: 10.1007/S00415-011-6239-Y |
0.404 |
|
| 2011 |
VanderVeen DK, Andrews C, Nihalani BR, Engle EC. Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD). Molecular Vision. 17: 3333-8. PMID 22219628 |
0.308 |
|
| 2011 |
Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Expansion of the CHN1 strabismus phenotype. Investigative Ophthalmology & Visual Science. 52: 6321-8. PMID 21715346 DOI: 10.1167/Iovs.11-7950 |
0.475 |
|
| 2011 |
Chan WM, Miyake N, Zhu-Tam L, Andrews C, Engle EC. Two novel CHN1 mutations in 2 families with Duane retraction syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 649-52. PMID 21555619 DOI: 10.1001/Archophthalmol.2011.84 |
0.417 |
|
| 2011 |
Oystreck DT, Engle EC, Bosley TM. Recent progress in understanding congenital cranial dysinnervation disorders. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. 31: 69-77. PMID 21317732 DOI: 10.1097/Wno.0B013E31820D0756 |
0.475 |
|
| 2011 |
Tischfield MA, Cederquist GY, Gupta ML, Engle EC. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Current Opinion in Genetics & Development. 21: 286-94. PMID 21292473 DOI: 10.1016/J.Gde.2011.01.003 |
0.424 |
|
| 2010 |
Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, et al. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Molecular Vision. 16: 2062-70. PMID 21042561 |
0.323 |
|
| 2010 |
Walsh CA, Engle EC. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 68: 245-53. PMID 20955932 DOI: 10.1016/J.Neuron.2010.09.042 |
0.383 |
|
| 2010 |
Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 937-47. PMID 20468056 DOI: 10.1002/Ajmg.B.31063 |
0.418 |
|
| 2010 |
Tischfield MA, Engle EC. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Bioscience Reports. 30: 319-30. PMID 20406197 DOI: 10.1042/Bsr20100025 |
0.368 |
|
| 2010 |
Demer JL, Clark RA, Tischfield MA, Engle EC. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. Investigative Ophthalmology & Visual Science. 51: 4600-11. PMID 20393110 DOI: 10.1167/Iovs.10-5438 |
0.478 |
|
| 2010 |
Engle EC. Human genetic disorders of axon guidance. Cold Spring Harbor Perspectives in Biology. 2: a001784. PMID 20300212 DOI: 10.1101/Cshperspect.A001784 |
0.38 |
|
| 2010 |
Rankin JK, Andrews C, Chan WM, Engle EC. HOXA1 mutations are not a common cause of Möbius syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 14: 78-80. PMID 20227628 DOI: 10.1016/J.Jaapos.2009.11.007 |
0.447 |
|
| 2010 |
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, ... ... Engle EC, et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140: 74-87. PMID 20074521 DOI: 10.1016/J.Cell.2009.12.011 |
0.414 |
|
| 2010 |
Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. American Journal of Medical Genetics. Part A. 152: 215-7. PMID 20034095 DOI: 10.1002/Ajmg.A.33168 |
0.423 |
|
| 2010 |
Heidary G, Andrews C, Engle EC, Hunter DG. Surgical Management in Congenital Fibrosis of the Extraocular Muscles Journal of Aapos. 14. DOI: 10.1016/J.Jaapos.2009.12.079 |
0.32 |
|
| 2009 |
Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM. Synergistic divergence: a distinct ocular motility dysinnervation pattern. Investigative Ophthalmology & Visual Science. 50: 5213-6. PMID 19578026 DOI: 10.1167/Iovs.08-2928 |
0.403 |
|
| 2009 |
Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 245-8. PMID 19541263 DOI: 10.1016/J.Jaapos.2009.03.007 |
0.428 |
|
| 2009 |
Flaherty MP, Balachandran C, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genetics. 30: 91-5. PMID 19373680 DOI: 10.1080/13816810802697473 |
0.447 |
|
| 2009 |
Iannaccone A, Miyake N, Ciccarelli ML, Cheng L, Andrews C, Campioni M, Baldi A, Kerr NC, Engle EC. 075: Autosomal-dominant Duane retraction syndrome (adDRS): Phenotypic and molecular effects of the G228S mutation in the CHN1 (DURS2) gene Journal of Aapos. 13. DOI: 10.1016/J.Jaapos.2008.12.046 |
0.395 |
|
| 2009 |
Heidary G, Miyake N, Yamada K, Andrews C, Traboulsi EI, Engle E. 068: Evidence for a new recessive congenital fibrosis of the extraocular muscles (CFEOM) locus Journal of American Association For Pediatric Ophthalmology and Strabismus. 13: e17-e18. DOI: 10.1016/J.Jaapos.2008.12.039 |
0.385 |
|
| 2008 |
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, ... ... Engle EC, et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (New York, N.Y.). 321: 839-43. PMID 18653847 DOI: 10.1126/Science.1156121 |
0.431 |
|
| 2008 |
Dumars S, Andrews C, Chan WM, Engle EC, Demer JL. Magnetic resonance imaging of the endophenotype of a novel familial Möbius-like syndrome. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 12: 381-9. PMID 18455936 DOI: 10.1016/J.Jaapos.2008.01.018 |
0.477 |
|
| 2008 |
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. The clinical spectrum of homozygous HOXA1 mutations. American Journal of Medical Genetics. Part A. 146: 1235-40. PMID 18412118 DOI: 10.1002/Ajmg.A.32262 |
0.421 |
|
| 2008 |
Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Seminars in Ophthalmology. 23: 3-8. PMID 18214786 DOI: 10.1080/08820530701745181 |
0.474 |
|
| 2007 |
Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome. Investigative Ophthalmology & Visual Science. 48: 5505-11. PMID 18055799 DOI: 10.1167/Iovs.07-0772 |
0.421 |
|
| 2007 |
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 69: 1245-53. PMID 17875913 DOI: 10.1212/01.Wnl.0000276947.59704.Cf |
0.471 |
|
| 2007 |
Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, ... ... Engle EC, et al. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. Bmc Genetics. 8: 26. PMID 17511870 DOI: 10.1186/1471-2156-8-26 |
0.416 |
|
| 2007 |
Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Archives of Neurology. 64: 633-7. PMID 17502461 DOI: 10.1001/Archneur.64.5.633 |
0.477 |
|
| 2007 |
Lim KH, Engle EC, Demer JL. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Investigative Ophthalmology & Visual Science. 48: 1601-6. PMID 17389489 DOI: 10.1167/Iovs.06-0691 |
0.358 |
|
| 2007 |
Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus. Investigative Ophthalmology & Visual Science. 48: 194-202. PMID 17197533 DOI: 10.1167/Iovs.06-0632 |
0.392 |
|
| 2007 |
Engle EC, Andrews C, Law K, Demer JL. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus. Investigative Ophthalmology & Visual Science. 48: 189-93. PMID 17197532 DOI: 10.1167/Iovs.06-0631 |
0.402 |
|
| 2006 |
Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE, Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology. 67: 519-21. PMID 16894121 DOI: 10.1212/01.Wnl.0000227960.38262.0C |
0.335 |
|
| 2006 |
Bosley TM, Oystreck DT, Robertson RL, al Awad A, Abu-Amero K, Engle EC. Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Brain : a Journal of Neurology. 129: 2363-74. PMID 16815872 DOI: 10.1093/Brain/Awl161 |
0.458 |
|
| 2006 |
Demer JL, Ortube MC, Engle EC, Thacker N. High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 10: 135-42. PMID 16678748 DOI: 10.1016/J.Jaapos.2005.12.006 |
0.375 |
|
| 2006 |
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. HOXA1 mutations are not a common cause of Duane anomaly. American Journal of Medical Genetics. Part A. 140: 900-2. PMID 16528738 DOI: 10.1002/Ajmg.A.31167 |
0.391 |
|
| 2006 |
Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. Journal of Medical Genetics. 43: e11. PMID 16525029 DOI: 10.1136/Jmg.2005.035436 |
0.391 |
|
| 2006 |
Engle EC. The genetic basis of complex strabismus. Pediatric Research. 59: 343-8. PMID 16492969 DOI: 10.1203/01.Pdr.0000200797.91630.08 |
0.412 |
|
| 2006 |
Lim KH, Engle EC, Demer JL. High-Resolution Magnetic Resonance Imaging (MRI) Quantifies Oculomotor Nerve (CN3) Size in Congenital Neuropathic Strabismus Journal of American Association For Pediatric Ophthalmology and Strabismus. 10: 88. DOI: 10.1016/J.Jaapos.2006.01.154 |
0.332 |
|
| 2005 |
Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Archives of Ophthalmology (Chicago, Ill. : 1960). 123: 1254-9. PMID 16157808 DOI: 10.1001/Archopht.123.9.1254 |
0.429 |
|
| 2005 |
Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genetics. 37: 1035-7. PMID 16155570 DOI: 10.1038/Ng1636 |
0.422 |
|
| 2005 |
Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Investigative Ophthalmology & Visual Science. 46: 530-9. PMID 15671279 DOI: 10.1167/Iovs.04-1125 |
0.448 |
|
| 2004 |
Traboulsi EI, Engle EC. Mutations in KIF21A are responsible for CFEOM1 worldwide. Ophthalmic Genetics. 25: 237-9. PMID 15621875 DOI: 10.1080/13816810490911684 |
0.329 |
|
| 2004 |
Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, ... ... Engle EC, et al. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Investigative Ophthalmology & Visual Science. 45: 2218-23. PMID 15223798 DOI: 10.1167/Iovs.03-1413 |
0.429 |
|
| 2004 |
Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, ... ... Engle EC, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (New York, N.Y.). 304: 1509-13. PMID 15105459 DOI: 10.1126/Science.1096437 |
0.331 |
|
| 2003 |
Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). American Journal of Ophthalmology. 136: 861-5. PMID 14597037 DOI: 10.1016/S0002-9394(03)00891-2 |
0.439 |
|
| 2003 |
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, ... ... Engle EC, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics. 35: 318-21. PMID 14595441 DOI: 10.1038/Ng1261 |
0.471 |
|
| 2003 |
Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscular Disorders : Nmd. 13: 472-8. PMID 12899874 DOI: 10.1016/S0960-8966(03)00065-8 |
0.445 |
|
| 2003 |
Ryan MM, Engle EC. Acute ataxia in childhood. Journal of Child Neurology. 18: 309-16. PMID 12822814 DOI: 10.1177/08830738030180050901 |
0.307 |
|
| 2003 |
Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefe's Archive For Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fã¼R Klinische Und Experimentelle Ophthalmologie. 241: 546-53. PMID 12819981 DOI: 10.1007/S00417-003-0703-Z |
0.466 |
|
| 2002 |
Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. American Journal of Human Genetics. 71: 1195-9. PMID 12395297 DOI: 10.1086/343821 |
0.458 |
|
| 2002 |
Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Familial unilateral Brown syndrome. Ophthalmic Genetics. 23: 175-84. PMID 12324876 DOI: 10.1076/Opge.23.3.175.7882 |
0.414 |
|
| 2002 |
Engle EC. The molecular basis of the congenital fibrosis syndromes. Strabismus. 10: 125-8. PMID 12221491 DOI: 10.1076/Stra.10.2.125.8142 |
0.451 |
|
| 2002 |
Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. American Journal of Ophthalmology. 134: 459-60. PMID 12208268 DOI: 10.1016/S0002-9394(02)01540-4 |
0.394 |
|
| 2002 |
Engle EC, Leigh RJ. Genes, brainstem development, and eye movements. Neurology. 59: 304-5. PMID 12177361 DOI: 10.1212/Wnl.59.3.304 |
0.393 |
|
| 2002 |
Mackey DA, Chan WM, Chan C, Gillies WE, Brooks AM, O'Day J, Engle EC. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Human Genetics. 110: 510-2. PMID 12073023 DOI: 10.1007/S00439-002-0707-5 |
0.454 |
|
| 2002 |
Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Annals of the New York Academy of Sciences. 956: 55-63. PMID 11960793 DOI: 10.1111/J.1749-6632.2002.Tb02808.X |
0.521 |
|
| 2002 |
Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. Bmc Genetics. 3: 3. PMID 11882252 DOI: 10.1186/1471-2156-3-3 |
0.487 |
|
| 2001 |
Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genetics. 29: 315-20. PMID 11600883 DOI: 10.1038/Ng744 |
0.52 |
|
| 2001 |
Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology. 108: 1313-22. PMID 11425694 DOI: 10.1016/S0161-6420(01)00582-6 |
0.453 |
|
| 2001 |
O'Brien KF, Engle EC, Kunkel LM. Analysis of human sarcospan as a candidate gene for CFEOM1. Bmc Genetics. 2: 3. PMID 11180757 DOI: 10.1186/1471-2156-2-3 |
0.695 |
|
| 2000 |
Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Archives of Ophthalmology (Chicago, Ill. : 1960). 118: 1090-7. PMID 10922204 DOI: 10.1001/Archopht.118.8.1090 |
0.42 |
|
| 2000 |
Traboulsi EI, Lee BA, Mousawi A, Khamis AR, Engle EC. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. American Journal of Ophthalmology. 129: 658-62. PMID 10844060 DOI: 10.1016/S0002-9394(99)00467-5 |
0.417 |
|
| 1999 |
Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Investigative Ophthalmology & Visual Science. 40: 1687-94. PMID 10393037 |
0.341 |
|
| 1998 |
Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. American Journal of Human Genetics. 63: 517-25. PMID 9683611 DOI: 10.1086/301980 |
0.704 |
|
| 1998 |
Swoboda KJ, Engle EC, Scheindlin B, Anthony DC, Jones HR. Mutilating hand syndrome in an infant with familial carpal tunnel syndrome. Muscle & Nerve. 21: 104-11. PMID 9427229 DOI: 10.1002/(Sici)1097-4598(199801)21:1<104::Aid-Mus13>3.0.Co;2-3 |
0.355 |
|
| 1997 |
Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. American Journal of Human Genetics. 60: 1150-7. PMID 9150162 |
0.316 |
|
| 1997 |
Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Annals of Neurology. 41: 314-25. PMID 9066352 DOI: 10.1002/Ana.410410306 |
0.67 |
|
| 1995 |
Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. American Journal of Human Genetics. 57: 1086-94. PMID 7485159 |
0.32 |
|
| 1995 |
Engle EC, Schaefer PW, Doody DP, Hedley-Whyte ET, Khurana D, Krishnamoorthy KS, Ebb DH, Herbert MR. A 29-month-old girl with worsening ataxia, nystagmus, and subsequent opsoclonus and myoclonus New England Journal of Medicine. 333: 579-586. DOI: 10.1056/NEJM199508313330909 |
0.421 |
|
| 1994 |
Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM. (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. Human Molecular Genetics. 3: 841. PMID 8081380 DOI: 10.1093/Hmg/3.5.841-A |
0.588 |
|
| 1994 |
Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics. 7: 69-73. PMID 8075644 DOI: 10.1038/Ng0594-69 |
0.742 |
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