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Jen JC, Chan W-M, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo L, Ou J, Lin DDM, Salih MAM, Kansu T, Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger J, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004; 304:1509-1513.

Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan W-M, Andrews C, Erickson RP, Engle EC. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nature Genetics. 2005 Oct; 37(10):1035-1037.

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan W-M, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome. Science. 2008 Aug 8; 321(5890):839-843.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan, W-M, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE., De Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berandinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty MP, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta, ML Jr, Pellman D, Engle EC. (2009). Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 2010 Jan 8;140(1):74-87.

Cheng L1, Desai J1, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan W-M, Wei Y, Propst F, Reck-Peterson LS, Fritzsch B, Engle EC*. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014, Apr 16;82(2):334-49.

Park JG, Tischfield MA2, Nugent AA2, Cheng L, Di Gioia SA, Chan W-M, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC*. Loss of MAFB function in human and mouse causes Duane syndrome, aberrant extraocular muscle innervation, and inner ear defects. Am J Hum Genet. 2016 Jun 2;98(6):1220-7.

Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan W-M, Cheng L, Engle EC*. Mutant alpha2-chimaerin signals via bidrectional ephrin pathways in Duane syndrome. J Clin Invest. 2017 May 1;127(5):1664-1682. PMCID: PMC5409791

Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GD, Chan W-M, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Strabismus Genetics Consortium, Hunter DG, Mackey DA, Engle EC*. Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064.

Whitman MC, Di Gioia SA, Chan W-M, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Strabismus Genetics Research Consortium, Gottlob I, Mackey DA, Hunter DG, Engle EC*. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):22.