D. Vollrath

发表

P. Deloukas, E. Lander, M. Adams, 1996, Science.

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

Manolis Kellis, B. Yaspan, J. Haines, 2012, PLoS genetics.

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States

B. Yaspan, J. Haines, M. Pericak-Vance, 2013, Molecular vision.

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

P. Lichter, M. Othman, D. Vollrath, 2000, American journal of ophthalmology.

The human Y chromosome: overlapping DNA clones spanning the euchromatic region.

D. Page, D. Vollrath, S. Foote, 1992, Science.

Separation of large DNA molecules by contour-clamped homogeneous electric fields.

R. W. Davis, D. Vollrath, G. Chu, 1986, Science.

Ocular disease mechanisms elucidated by genetics of human fetal retinal pigment epithelium gene expression

Nathan S. Abell, Michael J. Gloudemans, B. Balliu, 2018, bioRxiv.

Temperature sensitive secretion of mutant myocilins.

D. Vollrath, Yuhui Liu, 2006, Experimental eye research.

Physical mapping of the Myxococcus xanthus genome by random cloning in yeast artificial chromosomes.

A. Kuspa, D. Kaiser, D. Vollrath, 1989, Proceedings of the National Academy of Sciences of the United States of America.

mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice.

Xiyan Li, M. Lavail, D. Bok, 2011, The Journal of clinical investigation.

Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma.

J. Haines, M. Pericak-Vance, D. Vollrath, 1998, Investigative ophthalmology & visual science.

Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

D. Vollrath, J. Wiggs, 2001, Archives of ophthalmology.

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

P. Sieving, D. Vollrath, Kecia L. Feathers, 2004, Investigative ophthalmology & visual science.

The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables

B. Yaspan, J. Haines, M. Pericak-Vance, 2013, Journal of glaucoma.

AMP-independent activator of AMPK for treatment of mitochondrial disorders

G. Enns, T. Cowan, D. Vollrath, 2020, PloS one.

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2016 .

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2016, Investigative ophthalmology & visual science.

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Robert N Weinreb, Terry Gaasterland, Gadi Wollstein, 2013, American journal of ophthalmology.

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2018, Investigative ophthalmology & visual science.

Molecular linkage of the mouseCD5 andCD6 genes

B. Birren, D. Vollrath, J. Parnes, 2007, Immunogenetics.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma

Robert N Weinreb, Peter Kraft, Terry Gaasterland, 2015, Nature Genetics.

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

J. Haines, M. Pericak-Vance, G. Wollstein, 2019, JAMA ophthalmology.

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Robert N Weinreb, Peter Kraft, Terry Gaasterland, 2014, Ophthalmology.

Candidate genes for chromosomes 6 and 10 quantitative trait loci for age-related retinal degeneration in mice

Jun Z. Li, K. Dahlquist, M. Lavail, 2010, Molecular vision.

Resolution of DNA molecules greater than 5 megabases by contour-clamped homogeneous electric fields.

Ronald W. Davis, R. W. Davis, D. Vollrath, 1987, Nucleic acids research.

Loss-of-function mutations in the LIM-homeodomain gene , LMX 1 B , in nail – patella syndrome

P. Lichter, D. Vollrath, K. Scott, 1998 .

Adversarial domain translation networks for integrating large-scale atlas-level single-cell datasets

Justus M. Kebschull, Trygve E Bakken, Gabrielle J. Loeb, 2022, Nature Computational Science.

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

M. Pirinen, P. Donnelly, C. Spencer, 2019, Nature Communications.

Myocilin Mutations in Families with Late-Onset Primary Open-Angle Glaucoma

J. Haines, M. Pericak-Vance, D. Vollrath, 2000 .

Role of Mertk in RPE Phagocytosis and Retinal Disease

D. Vollrath, W. Feng, 2004 .

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography.

R. W. Davis, L. Jin, P. Underhill, 1997, Genome research.

Erratum

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 1937, Biological Psychiatry.

An RCS-like retinal dystrophy phenotype in mer knockout mice.

M. Lavail, J. Duncan, D. Vollrath, 2003, Investigative ophthalmology & visual science.

Mertk Triggers Uptake of Photoreceptor Outer Segments during Phagocytosis by Cultured Retinal Pigment Epithelial Cells*

M. Lavail, D. Vollrath, D. Yasumura, 2002, The Journal of Biological Chemistry.

Depletion of Mitochondrial DNA in Differentiated Retinal Pigment Epithelial Cells

D. Vollrath, M. Calton, Shibo Tang, 2019, Scientific Reports.

Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes.

D. Page, E. Fisher, K. Schmitt, 1993, Human molecular genetics.

Gene Therapy for MERTK-Associated Retinal Degenerations.

W. Hauswirth, M. Lavail, D. Vollrath, 2016, Advances in experimental medicine and biology.

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

P. Lichter, D. Vollrath, J. Richards, 1999, Journal of pediatric orthopedics.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

M. Boehnke, M. Epstein, D. Mackey, 2005, American journal of human genetics.

Tyro3 Modulates Mertk-Associated Retinal Degeneration

M. Lavail, D. Vollrath, M. Calton, 2015, PLoS genetics.

Inherited retinal dystrophy in Mer knockout mice.

M. Lavail, J. Duncan, D. Vollrath, 2003, Advances in experimental medicine and biology.

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

S. Jacobson, D. Vollrath, Yun Li, 2000, Nature Genetics.

Intrastriatal transplantation of retinal pigment epithelial cells for the treatment of Parkinson disease: in vivo longitudinal molecular imaging with 18F-P3BZA PET/CT.

L. Bu, D. Vollrath, Zhen Cheng, 2014, Radiology.

intrastriatal Transplantation of r etinal Pigment epithelial cells for the Treatment of Parkinson Disease: In Vivo Longitudinal

L. Bu, D. Vollrath, Zhen Cheng, 2014 .

The human Y chromosome: a 43-interval map based on naturally occurring deletions.

P. Beer-Romero, L. Brown, D. Page, 1992, Science.

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat.

M. Lavail, D. Vollrath, H. Abderrahim, 2000, Human molecular genetics.

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.

J. Naggert, M. Lavail, D. Vollrath, 2011, Investigative ophthalmology & visual science.

Tandem array of human visual pigment genes at Xq28.

J Nathans, R. W. Davis, J. Nathans, 1988, Science.

Mertk drives myosin II redistribution during retinal pigment epithelial phagocytosis.

D. Vollrath, W. Feng, D. J. Strick, 2009, Investigative ophthalmology & visual science.

Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis?

K. Lange, D. Page, E. Fisher, 1994, American journal of human genetics.

Population genetic implications from sequence variation in four Y chromosome genes.

R. W. Davis, P. Underhill, P. Shen, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms

Nathan S. Abell, Michael J. Gloudemans, B. Balliu, 2019, Communications Biology.

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Investigative ophthalmology & visual science.

Genetics DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014 .

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

D. Vollrath, T. Lai, Kanxing Zhao, 2013, Investigative ophthalmology & visual science.

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

Yeunjoo E. Song, Adriana I. Iglesias, J. Haines, 2017, European Journal of Human Genetics.

Rapid and stable knockdown of an endogenous gene in retinal pigment epithelium.

J. Flannery, M. Lavail, M. Kay, 2007, Human Gene Therapy.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

S. Jacobson, M. Othman, D. Vollrath, 2002, American journal of human genetics.

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma.

D. Vollrath, Yuhui Liu, 2005, Human molecular genetics.

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma

D. Vollrath, Yuhui Liu, 2004 .

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk

M. Lavail, M. Kay, J. Duncan, 2001, Proceedings of the National Academy of Sciences of the United States of America.

phiC31 integrase confers genomic integration and long-term transgene expression in rat retina.

D. Vollrath, M. Calos, T. Chalberg, 2005, Investigative ophthalmology & visual science.

1056. PhiC31 Integrase for Long-Term Non-Viral Gene Therapy in Rat Retina

D. Vollrath, M. Calos, T. Chalberg, 2004 .

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.

J. Haines, M. Pericak-Vance, D. Vollrath, 1998, American journal of human genetics.

Resolving Multimegabase DNA Molecules Using Contour-Clamped Homogeneous Electric Fields (CHEF).

D. Vollrath, 1992, Methods in molecular biology.

A cellular assay distinguishes normal and mutant TIGR/myocilin protein.

D. Vollrath, Z. Zhou, Zhaohui Zhou, 1999, Human molecular genetics.

An electrophoretic karyotype of Neurospora crassa

C. Yanofsky, R. W. Davis, D. Vollrath, 1988, Molecular and cellular biology.

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

P. Lichter, D. Vollrath, K. Scott, 1998, Human molecular genetics.

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

W. Hauswirth, T. Conlon, S. Boye, 2016, Human Genetics.

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

D. Vollrath, Kanxing Zhao, C. Pang, 2014, Human molecular genetics.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Human Genetics.

Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition.

P. Underhill, L. Cavalli-Sforza, M. Seielstad, 1994, Human molecular genetics.

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Adriana I. Iglesias, M. Pirinen, P. Donnelly, 2014, Nature Communications.

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.

M. Boehnke, H. Stringham, M. Othman, 1998, American journal of human genetics.

A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24.

D. Vollrath, V. L. Jaramillo-Babb, 1999, Genome research.

Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure.

M. Othman, D. Vollrath, S. Moroi, 2006, Molecular vision.

Method for measuring extracellular flux from intact polarized epithelial monolayers

D. Vollrath, M. Calton, Gillie Benchorin, 2018, Molecular vision.

AnElectrophoretic Karyotype ofNeurospora crassa

D. Vollrath, 1988 .

Characterization of the murine TIGR/myocilin gene

D. Vollrath, Z. Zhou, H. Abderrahim, 1998, Mammalian Genome.

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

K. Stefánsson, J. Haines, M. Pericak-Vance, 2017, Nature Communications.

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2017, Menopause.

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

Weinreb, Yutao, J. Haines, 2016, Investigative ophthalmology & visual science.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Margaret A. Pericak-Vance, Robert N. Weinreb, Peter Kraft, 2014, Human Genetics.

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Gadi Wollstein, Joel S Schuman, Jun Li, 2012, Investigative ophthalmology & visual science.

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Eye.

Nail-patella syndrome and its association with glaucoma: a review of eight families

D. Mackey, J. Rait, D. Vollrath, 2006, British Journal of Ophthalmology.

Physical mapping of large DNA by chromosome fragmentation.

R. W. Davis, C. Connelly, P. Hieter, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin.

D. Vollrath, Katherine C. Turnage, I. Schmidt-Krey, 2012, Journal of molecular biology.

Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.

D. Vollrath, J. N. Burns, S. D. Orwig, 2010, ACS chemical biology.

Generation of Cre transgenic mice with postnatal RPE-specific ocular expression.

D. Zack, D. Vollrath, E. Pierce, 2011, Investigative ophthalmology & visual science.

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Chen Zhao, D. Vollrath, Kanxing Zhao, 2015, Scientific Reports.

mTOR pathway activation in age-related retinal disease

Chen Zhao, D. Vollrath, Chen Zhao, 2011, Aging.

Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration

D. Vollrath, B. Yan, Jianhai Du, 2019, Theranostics.

Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium

Mohajeet B. Bhuckory, V. Mahajan, D. Vollrath, 2023, Scientific reports.

An efficient inducible RPE-Selective cre transgenic mouse line.

D. Vollrath, Ming Chen, Lily Kim, 2020, Experimental eye research.

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats.

W. Hauswirth, S. Boye, Kang Zhang, 2012, Investigative ophthalmology & visual science.

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

M. Blumenkranz, J. Binkley, D. Vollrath, 2006, American journal of ophthalmology.

Focus on molecules: MERTK.

D. Vollrath, D. J. Strick, David J. Strick, 2010, Experimental eye research.

AUTOSOMAL DOMINANT NANOPHTHALMOS MAPS TO CHROMOSOME 11

M. Boehnke, H. Stringham, M. Othman, 1999 .

Molecular linkage of the mouse CD5 and CD6 genes.

B. Birren, D. Vollrath, J. Parnes, 1996, Immunogenetics.

Therapeutic blood-brain barrier modulation and stroke treatment by a bioengineered FZD4-selective WNT surrogate in mice

A. Califano, C. Kuo, V. van Unen, 2023, Nature communications.

Therapeutic modulation of the blood-brain barrier and ischemic stroke by a bioengineered FZD4-selective WNT surrogate

C. Kuo, V. van Unen, D. Vollrath, 2022, bioRxiv.

Sustained delivery of NT‐3 from lens fiber cells in transgenic mice reveals specificity of neuroprotection in retinal degenerations

M. Lavail, J. Duncan, D. Vollrath, 2008, The Journal of comparative neurology.

Erratum: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome (Human Molecular Genetics (1998) 7 (1091-1098))

P. Lichter, D. Vollrath, K. Scott, 1998 .

Assessment of Murine Retinal Function by Electroretinography.

D. Vollrath, M. Calton, Gillie Benchorin, 2017, Bio-protocol.

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Jonathan H. Morgan, Adriana I. Iglesias, C. Sudlow, 2019, Communications Biology.

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, PLoS genetics.

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Simon C. Potter, Adriana I. Iglesias, M. Pirinen, 2018, Nature Communications.

Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms

Nathan S. Abell, Michael J. Gloudemans, B. Balliu, 2019, Communications Biology.

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.

J. Naggert, M. Lavail, D. Vollrath, 2011, Investigative ophthalmology & visual science.

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

W. Hauswirth, T. Conlon, S. Boye, 2016, Human Genetics.

Highly Differentiated Human Fetal RPE Cultures Are Resistant to the Accumulation and Toxicity of Lipofuscin-Like Material

D. Vollrath, S. Temple, D. Zacks, 2019, Investigative ophthalmology & visual science.

Assessment of Murine Retinal Function by Electroretinography.

D. Vollrath, M. Calton, Gillie Benchorin, 2017, Bio-protocol.

Diabetische Retinopathie

D. Vollrath, M. Blum, J. Strobel, 2003, Der Ophthalmologe.