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Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography: a predictor of visual acuity? MG Thomas, A Kumar, S Mohammad, FA Proudlock, EC Engle, ... Ophthalmology 118 (8), 1653-1660, 2011 | 453 | 2011 |
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis JC Jen, WM Chan, TM Bosley, J Wan, JR Carr, U Rüb, D Shattuck, ... Science 304 (5676), 1509-1513, 2004 | 438 | 2004 |
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family R Al-Baradie, K Yamada, CS Hilaire, WM Chan, C Andrews, N McIntosh, ... The American Journal of Human Genetics 71 (5), 1195-1199, 2002 | 361 | 2002 |
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development MA Tischfield, TM Bosley, MAM Salih, IA Alorainy, EC Sener, MJ Nester, ... Nature genetics 37 (10), 1035-1037, 2005 | 328 | 2005 |
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) K Yamada, C Andrews, WM Chan, CA McKeown, A Magli, ... Nature genetics 35 (4), 318-321, 2003 | 309 | 2003 |
Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome N Miyake, J Chilton, M Psatha, L Cheng, C Andrews, WM Chan, K Law, ... Science 321 (5890), 839-843, 2008 | 187 | 2008 |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation GY Cederquist, A Luchniak, MA Tischfield, M Peeva, Y Song, ... Human molecular genetics 21 (26), 5484-5499, 2012 | 137 | 2012 |
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 S Chew, R Balasubramanian, WM Chan, PB Kang, C Andrews, BD Webb, ... Brain 136 (2), 522-535, 2013 | 130 | 2013 |
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3) K Yamada, WM Chan, C Andrews, TM Bosley, EC Sener, JT Zwaan, ... Investigative ophthalmology & visual science 45 (7), 2218-2223, 2004 | 120 | 2004 |
Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius syndrome S MacKinnon, DT Oystreck, C Andrews, WM Chan, DG Hunter, EC Engle Ophthalmology 121 (7), 1461-1468, 2014 | 115 | 2014 |
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling L Cheng, J Desai, CJ Miranda, JS Duncan, W Qiu, AA Nugent, AL Kolpak, ... Neuron 82 (2), 334-349, 2014 | 113 | 2014 |
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ... Nature communications 8 (1), 1-16, 2017 | 92 | 2017 |
Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects JG Park, MA Tischfield, AA Nugent, L Cheng, SA Di Gioia, WM Chan, ... The American Journal of Human Genetics 98 (6), 1220-1227, 2016 | 89 | 2016 |
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1−/− mice BD Webb, S Shaaban, H Gaspar, LF Cunha, CR Schubert, K Hao, ... The American Journal of Human Genetics 91 (1), 171-179, 2012 | 89 | 2012 |
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 WM Chan, EI Traboulsi, B Arthur, N Friedman, C Andrews, EC Engle Journal of medical genetics 43 (3), e11-e11, 2006 | 87 | 2006 |
Biallelic mutations in human DCC cause developmental split-brain syndrome SS Jamuar, K Schmitz-Abe, AM D'Gama, M Drottar, WM Chan, M Peeva, ... Nature genetics 49 (4), 606-612, 2017 | 82 | 2017 |
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development MC Whitman, C Andrews, WM Chan, MA Tischfield, SF Stasheff, ... American journal of medical genetics Part A 170 (2), 297-305, 2016 | 73 | 2016 |
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation S Thomas, MG Thomas, C Andrews, WM Chan, FA Proudlock, RJ McLean, ... European Journal of Human Genetics 22 (3), 344-349, 2014 | 67 | 2014 |
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus DA Mackey, WM Chan, C Chan, W Gillies, AM Brooks, J O'Day, EC Engle Human genetics 110 (5), 510-512, 2002 | 64 | 2002 |