Publications

Journal Publications

Howell GR, MacNicoll KH, Braine CE, Soto I, Macalinao DG, Sousa GL, John SWM. 2014. Combinatorial targeting of early pathways profoundly inhibits neurodegeneration in a mouse model of glaucoma. Neurobiol Dis (in press)
 
Kizhatil K, Ryan M, Marchant J, Henrich S, John SWM. 2014. Schlemm’s canal is a unique vessel with a combination of blood vascular and lymphatic phenotypes that forms by a novel developmental process. PloS Biol  DOI: 10.1371/journal.pbio.1001912

Fernandes KA, Harder JM, John SWM, Shrager P, Libby RT. 2014. DLK-dependent signaling is important for somal but not axonal degeneration of retinal ganglion cells following axonal injury. Neurobiol Dis. 69:108-16.

M. Ward, K. Qing, K. Otto, R. Worth, S. W. M. John, and P.P. Irazoqui. 2014. The Autonomous Nerve Control System: A Flexible Platform for Personalized Nerve Stimulation Therapy,  IEEE TNSRE (in press)
 
Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, Thaung C, Keighren M, Jadeja S,West K, Kneeland SC, Smith RS, Howell GR, Young F, Robertson M, van t’Hof R, John SWM, Jackson IJ. 2014. A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LBD1-mediated dimerisation. PloS Genet 10(5):e1004359

Nair KS, Barbay J, Smith RS, Masli S, John SW. 2014. Determining immune components necessary for progression of pigment dispersing disease to glaucoma in DBA/2J mice. BMC Genet. 15(1):42.

Nongpiur ME, Khor CC, Jia H, Comes BK, Chen L, Qiao C, Nair KS, Cheng C, Xu L, George R, Do T, Abu Amero K, Perera SA, Ozaki M, Mizoguchi T, Kurimoto Y, Low S, Tajudin LA, Ho C, Tham CCY,7 Soto I, Chew PTK, Wong H, Shantha B, Kuroda M, Osman EA, Tang G, Fan S, Meng H, Wang H, Feng B,6Yong VHK, Ting SML, Li Y, Wang Y, Li Z, Lavanya R, Wu R, Zheng Y, Su DH, Loon S, Allingham RR, Hauser MA, Soumittra N, Ramprasad VL, Waseem N, Yaakub A, Chia K, Kumaramanickavel G, Wong TT, How AC, Chau TNB, Simmons CP, Bei J, Zeng Y,Bhattacharya SS, Zhang M,Tan DT, Teo Y, Al-Obeidan SA, Hon DN, Tai E, Saw S, Foster PJ, Vijaya L, Jonas JB, Wong T, John SWM, Pang C, Vithana EN, Wang N, Aung T. 2014. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. PloS Genet 10(3):e1004089.

Coleman JA, Zhu X, Djajadi HR, Molday LL, Smith RS, Libby RT, John SWM **, Molday RS **. 2014. Phospholipid Flippase ATP8A2 is Required for Normal Visual and Auditory Function and Photoreceptor and Spiral Ganglion Cell Survival.  J Cell Sci  127(Pt 5):1138-49.  **Joint corresponding authors

Williams PA, Howell GR, Barbay JM, Braine CE, Sousa GL, John SWM, Morgan JE. 2013. Retinal Ganglion Cell Dendritic Atrophy in DBA/2 Glaucoma. PLoS ONE 8(8):e72282

Howell GR, Soto I, Ryan M, Graham LC, Smith RS, John SWM. 2013. Deficiency of complement component 5 ameliorates glaucoma in DBA/2J mice. J Neuroinflammation 10(1):76 

Wiggs JL, Howell GR, Linkroum K, Abdrabou W, Hodges E, Braine CE, Pasquale LR, Hannon GJ, Haines JL, John SWM.2013. Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. Clin Genet 84(2):167-74.

C. Meng, J. Maeng, S.W.M. John, P.P. Irazoqui, "Ultrasmall Integrated 3D Micro-Supercapacitors Solve Energy Storage for Miniature Devices, " Adv. Energy Mater. 2013-04, 00, 6–6. DOI:10.1002/aenm.201301269

Reinholdt LG, Howell GR, Czechanski AM, Macalinao DG, MacNicoll KH, Lin CS, Donahue LR, John SWM. 2012. Generating embryonic stem cells from the inbred mouse strain DBA/2J, a model of glaucoma and other complex diseases. PLoS ONE 7(11): e50081.

Zhu X, Libby RT, deVries WN, Smith RS, Wright DL, Bronson RT, Seburn KL, John SWM. 2012. Mutations in a P-type ATPase gene cause axonal degeneration. PloS Genet 8(8):e1002853.

McDowell CM, Luan T, Zhang Z, Putliwala T, Wordinger RJ, Millar JC, John SWM, Pang IH, Clark AF. 2012. Mutant human myocilin induces strain specific differences in ocular hypertension and optic nerve damage in mice. Exp Eye Res 100:65-72

*Howell GR, Soto I, Zhu X, Ryan M, Macalinao DG, Sousa GL, Caddle LB, MacNicoll KH, Barbay JM, Porciatti V, Anderson MG, Smith RS, Clark AF, Libby RT, John SWM. 2012. Radiation treatment inhibits monocyte entry into the optic nerve head and prevents neuronal damage in a mouse model of glaucoma. J Clin Invest 122(4):1246-61
*Lewis Rudin Glaucoma Prize for outstanding glaucoma paper in 2012
                                                                                           


Fernandes KA, Harder JM, Fornarola LB, Freeman RS, Clark AF, Pang IH, John SWM, Libby RT. 2012. JNK2 and JNK3 are major regulators of axonal injury-induced retinal ganglion cell death. Neurobiol Dis 46(2):393-401

Howell GR, Walton DO, King BL, Libby RT, John SWM. 2011. Datgan, a reusable software system for facile interrogation and visualization of complex transcription profiling data. BMC Genomics 12:429


Nair KS, Hmani-Aifa M, Ali Z, Kearney A, Salem SB, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Söderkvist P, Howell GR, Smith RS, Ayadi H, John SWM. 2011. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalamia in humans and mice. Nat Genet 43(6):579-584


*Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai ACH, Nair KS, Cosma MI, Smith RS, Hodges E, AlFadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani AM, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SWM**, Maas RL**. 2011. Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma. Science 331:1571-1576. **Joint corresponding authors

*Highlighted paper, Faculty of 1000 Biology http://f1000.com/9919957

Howell GR,  Macalinao DG,  Sousa GL, Walden M, Soto I, Kneeland SC, Barbay JM, King BL, Marchant JK, Hibbs M, Stevens B, Barres BA, Clark AF, Libby RT, John SWM. 2011. Molecular clustering identified complement and endothelin induction as early events in a mouse glaucoma. J Clin Invest 121:1429-1444

Barabas P, Huang W, Chen H, Koehler C, Howell GR, John SWM, Tian N, Renteria RC, Krizaj D. 2011.
Missing optomotor head turning reflex in the DBA/2J mouse. Ivest Ophthalmol Vis Sci
52(9):6766-73

Camp AS, Ruggeri M, Munguba GC, Tapia ML, John SW, Bhattacharya SK, Lee RK. 2011. Structural correlation between the nerve fiber layer and retinal ganglion cell loss in mice with targeted disruption of the Brn3b gene. Invest Ophthalmol Vis Sci 13;52(8):5226-32

Gregory MS, Hackett CG, Abernathy EF, Lee KS, Saff RR, Hohlbaum AM, Moody KL, Hobson MW, Jones A, Kolovou P, Karray S, Giani A, John SWM, Chen DF, Marshak-Rothstein A, Ksander BS. 2011. Opposing roles for membrane-bound and soluble Fas ligand in glaucoma-associated retinal ganglion cell death. PLoS ONE 6(3): e17659

Ha D, de Vries WN, John SWM, Irazoqui PP, Chappell WJ. 2011. Polymer-Based Miniature Flexible Capacitive Pressure Sensor for Intraocular Pressure (IOP) Monitoring inside a Mouse Eye. Biomedical Microdevices. 1:207-215

Mao M, Hedberg-Buentz A, Koehn D, John SWM, Anderson MG. 2011.  Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Invest Ophthalmol Vis Sci  20(8):462-475

Veth KN, Willer JR, Collery RF, Gray MP, Willer GB, Wagner DS, Mullins MC, Udvadia AJ, Smith RS, John SWM, Gregg RG, Link BA. 2011. Mutations in zebrafish lrp2 result in adult onset ocular pathogenesis that models myopia and other risk factors for glaucoma. PloS Genet 7(2): e1001310

Lee B, Kano K, Young J,
John SWM, Nishina PM, Naggert JK, Naito K. 2009. A novel ENU-induced mutation, peewee, causes dwarfism in the mouse. Mamm Genome 20:404-413

Gray MP, Smith RS, Soules KA,
John SWM. Link BA. 2009. The aqueous humor outflow pathway of zebrafish. Invest Ophthalmol Vis Sci  50:4 1515-1521

Anderson MG, Hawes NL, Trantow CM, Chang B, John SWM. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. 
Pigment Cell & Melanoma Res 21:565-578

*Anderson MG, Nair KS, Amonoo LA, Mehalow A, Trantow C, Masli S, John SWM. 2008. GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. BMC Genet 9:30
*Highly accessed designation, Bio Med Central

Howell GR, Libby RT, Jakobs TC, Smith RS, Phalan FC, Barter JW, Barbay JM, Marchant JK, Mahesh N, Porciatti V, Whitmore AV, Masland RH,
John SWM.  2007.  Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol  179:1523-1537.

Libby RT, Howell GR, Pang I-H, Savinova OV, Barter J, Smith RS, Clark AF, John SWM.  2007.  Inducible nitric oxide synthase,
Nos2, does not mediate optic neuropathy and retinopathy in the DBA/2J glaucoma model. BMC Neurosci 8:108  doi:10.1186/1471-2202-8-108

*Stevens B, Allen NJ, Vazquez LE, Howell GR,  Christopherson KS, Nouri N, Micheva KD, Mehalow A, Huberman AD, Stafford B, Sher A, Litke AM, Lambris JD, Smith SJ, John SWM, Barres BA.  2007. The Classical Complement Cascade Mediates CNS Synapse Elimination. 
Cell 131: 1164-1178
*Highlighted paper, Faculty of 1000 Biology http://f1000.com/1097614#eval556514

Brooks BP, Larson DM, Chan C-C, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan WJ.  2007.  Analysis of ocular hypopigmentation in
Rab38cht/cht mice.  Invest Ophthalmol Vis Sci  48:9

Howell GR, Libby RT, Marchant JK, Wilson LA, Cosma IM, Smith RS, Anderson MG, John SWM.  2007.  Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of
Gpnmb and Tyrp1BMC Genet 8:45

Fox MA, Sanes JR, Borza, DB, Eswarakumar VP, Fassler R, Hudson B, John SWM, Ninomiya Y, Pedchenko V, Rheault M, Sado Y, Segal Y, Werle MJ, Umemori H.  2007. Distinct targeted-derived signals organize formation, maturation and maintenance of motor nerve terminals. 
Cell 129: 179-193

Gould DB, Marchant JK, Savinova OV, Smith RS, John SWM.  2007. 
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.  Hum Mol Genet 16: 7798-7807

Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL,
John SWM.  2006.  Mutant myocilin non-secretion in vivo is not sufficient to cause glaucoma.  Mol Cell Biol 26: 8427-8436

Anderson MG, Libby RT, Mao M, Cosma IM, Wilson LA, Smith RS,
John SWM.  2006.  Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma.  BMC Biol 4:20

Anderson MG, Haraszti T, Petersen GE, Wirick S, Jacobsen C, John SWM, Grunze M.  2006.  Scanning transmission X-ray microscopic analysis of purified melanosomes of the mouse iris. 
Micron 37:689-698

*Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Germaine Bousser M, Heutink P, Miner JH, Tournier-Lasserve E, John SWM.  2006.  Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N E J Med 354:1489-1496
*Highlighted paper, Faculty of 1000 Biology http://f1000.com/12625

Breedveld G, de Coo RF, Lequin MH, Arts WF, Heutink P, Gould DB,
John SWM, Oostra B, Mancini GM.  2005.  Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.  J Med Genet 43:490-495

Jakobs TC, Libby RT, Ben Y, John SWM, Masland RH.  2005.  Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. 
J Cell Biol 171:313-325
Libby RT, Anderson MG, Pang I-H, Robinson Z, Savinova OV, Cosma IM, Snow A, Wilson LA, Smith RS, Clark AF, John SWM.  2005.  Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. 
Vis Neurosci 22:637-648

Libby RT, Yan L, Savinova OV, Barter J, Smith RS, Nickells RW,
John SWM.  2005.  Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage.  PLoS Genet 1:17-26

Hagaman JR, John SWM, Xu L, Smithies O, Maeda N.  2005 An improved technique for tail-cuff blood pressure measurements with dark-tailed mice. 
Contemp Top Lab Anim Sci 44:43-46

*Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P
, John SWM.  2005.  Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.  Science 308:1167-1171                                        
*Highlighted paper, Faculty of 1000 Biology http://www.f1000biology.com/article/id/1026611/evaluation


*Anderson MG, Libby RT, Gould DB, Smith RS, John SWM.  2005.  High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. 
Proc Natl Acad Sci USA 102:4566-4571
*
World-wide glaucoma award for daring, breakthrough, creative, original body of work & for most important paper in glaucoma in 2005.

Link BA, Gray MP, Smith RS, John SWM.  2004.  Intraocular pressure in zebrafish: comparison of inbred strains and identification of a reduced melanin mutant with raised IOP. 
Invest Ophthalmol Vis Sci   45:4415-4422

Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SWM.  2004.  Genetically increasing
Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.  Mol Cell Biol 24:9019-9025

Wang D, Oparil S, Feng JI, Li P, Perry G, Chen LB, Dai M, John SWM, Chen YF.  2003.  Effects of pressure overload on extracellular matrix expression in the heart of the atrial natriuretic peptide null mouse. 
Hypertension 42:88-95

Mo JS, Anderson MG, Gregory M, Smith RS, Savinova OV, Serreze DV, Ksander BR, Streilein JW, John SWM.  2003.  By altering ocular immune privilege, bone marrow-derived cells pathogenically contribute to DBA/2J pigmentary glaucoma. 
J Exp Med 197: 1335-1344

Lehmann OJ, Tuft S, Brice G, Smith RS, Blixt A, Bell R, Jordan T, Hitchings RA, Khaw PT, John SWM, Carlsson P, Bhattacharya SS.  2003.  Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function. 
Invest Ophthalmol Vis Sci 44:2627-2633

*Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SWM.  2003.  Modification of ocular defects in mouse developmental glaucoma models by tyrosinase.  Science 299:1578-1581

*Lewis Rudin Glaucoma Prize, for most significant glaucoma paper in 2003


Sugiyama F, Churchill GA, Li R, Libby LJM, Carver T, Yagami K-I, John SWM, Paigen B.  2002.  Quantitative trait loci associated with blood pressure, heart rate and heart weight in CBA/CaJ and BALB/cJ mice. 
Physiol Genomics 10:5-12

Kim HS, Lee G, John SWM, Maeda N, Smithies O.  2002.  Molecular phenotying for analyzing subtle genetic effects in mice: application to an angiotensinogen gene titration. 
Proc Natl Acad Sci USA 99:4602-4607

Smith RS, Korb D, John SWM.  2002.  A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve. 
Mol Vis 8:26-31

Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, Wiggs JL, John SWM.  2002. Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. 
Nat Genet 30:81-85

Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, Gan L, Smith RS, Tomarev SI, John SWM, Johnson RL.  2001.  Targeted disruption of myocilin (
Myoc) suggests that human glaucoma-causing mutations are gain of function.  Mol Cell Biol 21:7707-7713

Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SWM, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James, SJ, Rozen R.  2001.  Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. 
Hum Mol Genet 10:433-443

*Smith RS, Zabaleta A, Savinova OV, John SWM. 2001. The mouse anterior chamber angle and trabecular meshwork develop without cell death.  BMC Dev Biol 1:3
*Highly accessed designation, Bio Med Central

*Chang B, Smith RS, Peters M, Savinova OV, Hawes NL, Zabaleta A, Nusinowitz S, Martin JE, Davisson MT, Cepko CL, Hogan BLM, John SWM.  2001.  Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure.  BMC Genetics 2:18
*Highly accessed designation, Bio Med Central

*Savinova OV, Sugiyama F, Martin JE, Tomarev SI, Paigen BJ, Smith RS, John SWM.  2001.  Intraocular   pressure in genetically distinct mice: an update and strain survey.  BMC Genetics 2:12

*Highly accessed designation, Bio Med Central

Anderson MG, Smith RS, Savinova OV, Hawes NL, Chang B, Zabaleta A, Wilpan R, Heckenlively JR, Davisson MT, John SWM.  2001.  Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice.  BMC Genetics 2:1

Vera N, Yat Tse M, Watson JD, Sarda S, Steinhelper ME, John SWM, Flynn TG, Pang SC.  2000.  Altered expression of natriuretic peptide receptors in proANP gene disrupted mice. 
Cardiovasc Res 46:595-603

Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BLM, John SWM. 2000.  Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Hum Mol Genet 9: 1021-1032

Munroe RJ, Bergstron RA, Zheng QY, Libby B, Smith RS, John SWM, Schimenti KJ, Browning VL, Schimenti JC.  2000.  Mouse mutants from chemically mutagenized embryonic stem cells. 
Nat Genet 24:318-321

Smith RS, John SWM, Zabaleta A, Davisson MT, Hawes NL, Chang B.  2000.  The
Bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Proc Natl Acad Sci USA 97:2191-2195

Hawes NL, Smith RS, Chang B, Davisson MT, Heckenlively JR, John SWM. 1999.  Mouse fundus photography and angiography: A catalogue of normal and mutant phenotypes. 
Mol. Vis 5:22-29.

Chang B, Smith RS, Hawes NL, Anderson MG, Zabaleta A, Savinova O, Roderick TH, Heckenlively JR, Davisson MT, John SWM.  1999.  Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. 
Nat Genet 21:405-409

John SWM, Smith RS, Hawes NL, Savinova OV, Chang B, Turnbull D, Davisson MT, Roderick TH, Heckenlively JR.  1998.  Essential Iris atrophy, pigment dispersion and glaucoma in DBA2/J mice.
Invest Ophthalmol Vis Sci 39:951-962

Oliver PM,
John SWM, Purdy KE, Kim R, Maeda N, Goy M, Smithies O, 1998.  Natriuretic peptide receptor 1 expression influences blood pressures of mice in a dose dependent manner.  Proc Natl Acad Sci USA 95:2547-2551

Savinova OV, Matsukawa N, Smithies O, John SWM.  1997. Mouse natriuretic peptide receptor 3 gene maps to proximal Chromosome 15. 
Mamm Genome 8:788

MacTaggart TE, Ito M, Smithies O, John SWM.  1997.  Mouse angiotensin receptor genes
Agtr1a and Agtr1b map to Chromosomes 13 and 3.  Mamm Genome 8:294-295

John SWM, Hagaman JR, MacTaggart TE, Peng L, Smithies O.  1997.  Intraocular pressure in inbred mouse strains. 
Invest Ophthalmol Vis Sci 38:249-253

Huang H, John SWM, Steinhelper ME.  1996.  Organization of the mouse cardiac natriuretic peptide locus encoding BNP and ANP. 
J Mol Cell Cardiol 28:1823-1828

John SWM, Veress AT, Honrath U, Chong CK, Peng L, Smithies O, Sonnenberg H.  1996.  Blood pressure and fluid electrolyte balance in mice with reduced or absent ANP gene expression.  Am J Physiol 271:R109-114

Krege JH, John SWM, Hodgin JB, Hagaman JR, Langenbach LL, Bachman ES, Jennette JC, O'Brien DA, Smithies O.  1995.  Male-female differences in fertility and blood pressure in mice deficient in angiotensin-converting enzyme ACE. 
Nature 375:146-148

John SWM, Krege JH, Oliver PM, Hagaman JR, Hodgin JB, Pang SC, Flynn TG, Smithies O.   1995.  Genetic decreases in atrial natriuretic peptide and salt-sensitive hypertension. 
Science 267:679-681

Detloff PJ, Lewis J, John SWM, Shehee WR, Langenbach R, Maeda N, Smithies O.  1994.  Deletion and replacement of the mouse adult β-globin genes by a "plug and socket" repeated targeting strategy. 
Mol Cell Biol 14:6936-6943

Lyonnet S, Melle D, DeBraekeleer M, Laframboise R, Rey F, John SWM, Berthelon M, Berthelot J, Journel H, Le Marec B, Parent P, Parscau L, Saudubray J-M, Rozen R, Rey J, Munnich A, Scriver CR.  1992.  Time and space clusters of the French Canadian M1V phenylketonuria mutation in France. 
Am J Hum Genet 51:191-196

John SWM, Scriver CR, Rozen R.  1992.  In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. 
Hum Mutat 1:147-153

John SWM, Rozen R, Laframboise R, Laberge C,  Scriver CR.  1992.  Five mutations at the PAH locus account for almost 90% of PKU mutations in French Canadians from eastern Quebec. 
Hum Mutat 1:72-74

Italiano C,
John SWM, Hum DW, MacKenzie RE, Rozen R.  1991.  A pseudogene on the X chromosome for the human trifunctional enzyme, MTHFD (methylenetetrahydrofolate dehydrogenase-methylenetetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase).  Genomics 10:1073-1074

John SWM, Weitzner G, Rozen R, Scriver CR.  1991.  A rapid procedure for extracting genomic DNA from leukocytes. 
Nucleic Acids Res 19:408

John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C.  1990.  Recurrent mutation, gene conversion or recombination at the human phenylalanine hydroxylase locus: evidence in French Canadians and a catalog of mutations. 
Am J Hum Genet 46:970-974

John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR.  1989.  Novel PKU mutation on haplotype 2 in French Canadians. 
Am J Hum Genet 45:905-909



Engineering Meeting Papers
(complete peer reviewed papers are presented/published at engineering meetings)

S.Lee, P.Williams, D.Lin, S.W.M.John, P.P Irazoqui, “Modular Cortex-M0 MCU Platform for Wireless, Controlled Deep Brain LED-Fiber Coupled Optical Stimulation in Optogenetics,” IEEE EMBS Conference Neural Engineering, San Diego, CA, November 2013

Ha D, de Vries WN, Kim B, Chelbowski A, John SWM, Irazoqui PP, Chappell WJ. 2011. A Compact-Size Packaged Sensor for Intraocular Pressure (IOP) Monitoring inside a Mouse Eye. IEEE MTT-S Int. Microwave Symp. Montreal, QC, Canada. epub

Ha D, Lin T, Kim B, John SWM John, Irazoqui PP, Chappell WJ. 2011. Small form factor (SFF) Packaging on Liquid Crystal Polymer (LCP) for Implantable Wireless Intraocular Pressure (IOP) Sensor inside Mice Eye. URSI National Radio Science Meeting, Boulder, CO.

Lin TY, Ha D, de Vries WN, Kim B, Chlebowski A, John SWM, Irazoqui PP, Chappell WJ. 2011. Ultra- thin Tag Fabrication and Sensing Technique using Third Harmonic for Implantable Wireless Sensors. IEEE MTT-S Int. Microwave Symp. Baltimore, MD. TU2B-3:1040-1100.

Kubendran R, Krishnan H, Manola B, John SWM, Chappell WJ, Irazoqui PP. 2011. A Generic Miniature Multi-feature Programmable Wireless Powering Headstage ASIC for Implantable Biomedical System. IEEE Engineering in Medicine and Biology Conf. Boston, MA. 1:5617-5620

Chow EY, Ha D, Lin TY, De Vries WN, John SWM, Chappell WJ, Irazoqui PP. 2010. Sub-cubic millimeter intraocular pressure monitoring implant to enable genetic studies on pressure-induced neurodegeneration. Conf Proc IEEE Eng Med Biol Soc. Buenos Aires, Argentina. 1:6429-6432


Reviews

Howell GR, Soto I, Libby RT, John SWM. 2013. Intrinsic axonal degeneration pathways are critical for glaucomatous damage. Exp Neurol 246:54-61

Nickells RW, Howell GR, Soto I, John SWM. 2012.Under pressure: cellular and molecular responses during glaucoma, a common neurodegeneration with axonopathy.. Annu Rev Neurosci. 35:153-79.

Howell GR, John SWM. 2010. Genetics and genomic approaches for understanding retinal diseases. Published in Animal Models for Retinal Diseases. Neuromethods 46:25-29

Howell GR, Libby RT, John SWM. 2008. Mouse genetic models: an ideal system for understanding glaucomatous neurodegeneration and neuroprotection.
Prog Brain Res 173:303-321

John SWM. 2007. The mouse is an important model system for determining molecular mechanisms of glaucoma. International Glaucoma Review 8:4

John SWM, Magnuson T.  2007.  The 2007 Thomas Hunt Morgan Medal: Oliver Smithies.  Genetics 175:459-462

Libby RT, Gould DB, Anderson MG, John SWM.  2005.  Complex Genetics of Glaucoma Susceptibility. 
Ann Rev Genom Hum Genet 6:15-44

Whitmore AV, Libby RT, John SWM.  2005.  Glaucoma: thinking in new ways – a role for autonomous axonal self-destruction and other compartmentalized processes?
Prog Retin Eye Res 24:639-662

John SWM.  2005.  Mechanistic insights to glaucoma provided by experimental genetics: The Cogan Lecture. 
Invest Ophthalmol Vis Sci 46:2650-2661

Gould DB, Smith RS, John SWM.  2004. Anterior Segment Development Relevant to Glaucoma.
Int J Dev Biol 49:1015-1029

Gould DB, John SWM.  2002.  Anterior segment dysgenesis and the developmental glaucomas are complex traits. 
Hum Mol Genet 11:1185-1193

John SWM, Anderson MG, Smith, RS. 1999.  Mouse Genetics: A tool to help unlock the mechanisms of glaucoma.
J Glaucoma 8:400-412

Scriver CR, John SWM, Rozen R, Eisensmith R, Woo SLC.  1993.  Associations between populations, PKU mutations and RFLP haplotypes at the PAH locus: an overview. 
Dev Brain Dysfunct 6:11-25


Books

Smith RS, John SWM, Nishina PM, Sundberg JP.  2002.  Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Florida.


Book Chapters

Howell GR and John SWM. 2010. Genetic and genomic approaches for understanding retinal diseases. In Animal Models for Retinal Diseases, Clark AF, Pang I-H (Eds.), Springer Protocols. Secaucus, NJ Humana Press 46:25-49

Howell GR, Libby RT, John SWM. 2008. Mouse Genetic Models: An Ideal system for understanding glaucomatous neurodegeneration and neuroprotection. In Brain Research Glaucoma: An Open-Window to Neurodegeneration and Neuroprotection, Nucci C (Ed.), Elsevier, San Diego, California


Smith RS, Nishina PM, Sundberg JP, Zwaan J, John SWM.  2007.  The mouse in biomedical research.  In
Eye Research.  Fox J, Newcomer C, Smith A, Barthold S, Quimby F, Davisson M, (Eds.), Elsevier, San Diego, California Vol 3:595-615


Howell GR, Marchant JK, John SWM.  2008.  Mouse models: A key system in revolutionizing understanding of glaucoma.  In Eye, Retina, and Visual System of the Mouse, Chalupa LM, Williams RW (Eds.), MIT Press, Massachusetts. VI:479-491

Anderson MG, Streilein WJ, John SWM.  2007. Role of ocular antigen presenting cells in pigmentary forms of glaucoma.  In
Antigen-presenting Cells and the Eye.  Zierhut M, Rammensee HG, Streilein W (Eds.), Taylor & Francis Group, New York/London. 199-208

John SWM, Savinova OV.  2002.  Intraocular pressure measurement in mice: Technical aspects. In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 313-319

Smith RS, Zabaleta A, John SWM.  2002. Light microscopy. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 266-271

Smith RS, Hawes NL, Miller J, Sundberg JP, John SWM.  2002.  Necrospy and photography. In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 251-264

Smith RS, John SWM, Sundberg JP.  2002.  Optic nerve and orbit. In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 227-250

Smith RS, Sundberg JP, John SWM.  2002.  The anterior segment. In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 111-160

Smith RS, Kao W, John SWM.  2002.  Ocular development.  In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 45-66

Smith RS,  John SWM, Nishina PM.  2002.  The posterior segment and orbit.  In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 25-45

Smith RS, Sundberg JP, John SWM.  2002.  The anterior segment and ocular adnexae.  In
Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods, Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.), CRC Press, Boca Raton, Florida, 3-24

Smith RS, Nishina PM, Ikeda S, Jewett P, Zabaleta A, John SWM.  2000. Interpretation of Ocular Pathology in Genetically-Engineered and Spontaneous Mutant Mice. In
Pathology of Genetically Engineered Mice. Ward J, Sundberg J, (Eds.), University of Iowa Press, Iowa City, Iowa, 217-2

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