Obserwuj
Wai-Man Chan
Wai-Man Chan
Nieznane powiązanie
Zweryfikowany adres z enders.tch.harvard.edu
Tytuł
Cytowane przez
Cytowane przez
Rok
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ...
Cell 140 (1), 74-87, 2010
6542010
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
4532011
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
4382004
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
3612002
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
3282005
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
3092003
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
1872008
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
1372012
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
1302013
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
1202004
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
1152014
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
1132014
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
922017
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
892016
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
892012
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
872006
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
822017
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
732016
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
672014
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
642002
Nie można teraz wykonać tej operacji. Spróbuj ponownie później.
Prace 1–20