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1

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Allikmets, Rando, Singh, Nanda, Sun, Hui, Shroyer, Noah F., Hutchinson, Amy, Chidambaram, Abirami, Gerrard, Bernard, Baird, Lisa, Stauffer, Dora, Peiffer, Andy

Journal:

Nature Genetics

Year:

1997

File:

PDF, 1.20 MB

1997

2

Macular pigment and visual acuity in Stargardt macular dystrophy

Xinyuan Zhang, János Hargitai, Jaana Tammur, Amy Hutchinson, Rando Allikmets, Stanley Chang, Peter Gouras

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2002

Language:

english

File:

PDF, 638 KB

english, 2002

3

Pseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes

Barbazetto, Irene A., Yannuzzi, Nicolas A., Klais, Christina M., Merriam, Joanna E., Zernant, Jana, Peiretti, Enrico, Yannuzzi, Lawrence A., Allikmets, Rando

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 8.85 MB

english, 2007

4

Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy

Nõupuu, Kalev, Lee, Winston, Zernant, Jana, Greenstein, Vivienne C., Tsang, Stephen, Allikmets, Rando

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

2016

Language:

english

File:

PDF, 5.57 MB

english, 2016

5

Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease

Lee, Winston, Zernant, Jana, Nagasaki, Takayuki, Tsang, Stephen H., Allikmets, Rando

Journal:

American Journal of Ophthalmology

Year:

2018

Language:

english

File:

PDF, 7.38 MB

english, 2018

6

Mapping the cis -regulatory architecture of the human retina reveals noncoding genetic variation in disease

Cherry, Timothy J., Yang, Marty G., Harmin, David A., Tao, Peter, Timms, Andrew E., Bauwens, Miriam, Allikmets, Rando, Jones, Evan M., Chen, Rui, De Baere, Elfride, Greenberg, Michael E.

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 12.82 MB

2020

7

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

Pascal Escher, Peter Gouras, Raphaël Roduit, Leila Tiab, Sylvain Bolay, Tania Delarive, Shiming Chen, Chih-Cheng Tsai, Masanori Hayashi, Jana Zernant, Joanna E. Merriam, Nicolas Mermod, Rando Allikmet

Journal:

Year:

2009

Language:

english

File:

PDF, 777 KB

english, 2009

8

Development of photoreceptor-specific promoters and their utility to investigate EIAV lentiviral vector mediated gene transfer to photoreceptors

Marjorie Nicoud, Jian Kong, Sharifah Iqball, On Kan, Stuart Naylor, Peter Gouras, Rando Allikmets, Katie Binley

Journal:

The Journal of Gene Medicine

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

9

XIIXVI. Yeast sequencing reports. Mapping and sequencing of two yeast genes belonging to the ATP-binding cassette superfamily

Michael Dean, Rando Allikmets, Bernard Gerrard, Claudia Stewart, Amy Kistler, Brenda Shafer, Susan Michaelis, Jeff Strathern

Journal:

Year:

1994

Language:

english

File:

PDF, 762 KB

english, 1994

10

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

Antonella Fumagalli, Maurizio Ferrari, Nadia Soriani, Alessandra Gessi, Barbara Foglieni, Elisabetta Martina, Maria Manitto, Rosario Brancato, Michael Dean, Rando Allikmets, Laura Cremonesi

Journal:

Year:

2001

Language:

english

File:

PDF, 149 KB

english, 2001

11

10.1038/83817

Petrukhin, Konstantin, Zhang, Kang, Kniazeva, Marina, Han, Min, Li, Wen, Yu, Zhengya, Yang, Zhenglin, Li, Yang, Metzker, Michael L., Allikmets, Rando, Zack, Donald J., Kakuk, Laura E., Lagali, Pamela

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 371 KB

english, 2001

12

10.1038/83799

Patel, Shailendra B., Lee, Mi-Hye, Lu, Kangmo, Hazard, Star, Yu, Hongwei, Shulenin, Sergey, Hidaka, Hideki, Kojima, Hideto, Allikmets, Rando, Sakuma, Nagahiko, Pegoraro, Rosemary, Srivastava, Anand K.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 185 KB

english, 2001

13

Multilocus analysis of age-related macular degeneration

Bergeron-Sawitzke, Julie, Gold, Bert, Olsh, Adam, Schlotterbeck, Sarah, Lemon, Kendal, Visvanathan, Kala, Allikmets, Rando, Dean, Michael

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 212 KB

english, 2009

14

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Martínez-Mir, Amalia, Paloma, Eva, Allikmets, Rando, Ayuso, Carmen, Río, Teresa del, Dean, Michael, Vilageliu, Lluísa, Gonzàlez-Duarte, Roser, Balcells, Susana

Journal:

Nature Genetics

Year:

1998

File:

PDF, 291 KB

1998

15

Bringing age-related macular degeneration into focus

Allikmets, Rando, Dean, Michael

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 167 KB

english, 2008

16

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa

Klevering, B Jeroen, Yzer, Suzanne, Rohrschneider, Klaus, Zonneveld, Marijke, Allikmets, Rando, Born, L Ingeborgh van den, Maugeri, Alessandra, Hoyng, Carel B, Cremers, Frans PM

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004

17

Complete Characterization of the Human ABC Gene Family

Michael Dean, Rando Allikmets

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2001

Language:

english

File:

PDF, 141 KB

english, 2001

18

A group of notI jumping and linking clones cover 2.5 Mb in the 3p21–p22 region suspected to contain a tumor suppressor gene

Vladimir I. Kashuba, Anna Szeles, Rando Allikmets, Ann-Sofie Nilsson, Ulf S.R. Bergerheim, William Modi, Alexander Grafodatsky, Michael Dean, Eric J. Stanbridge, Gösta Winberg, George Klein, Eugene R.

Journal:

Cancer Genetics and Cytogenetics

Year:

1995

Language:

english

File:

PDF, 783 KB

english, 1995

19

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

Robert K Koenekoop, Irma Lopez, Anneke I Den Hollander, Rando Allikmets, Frans PM Cremers

Journal:

Clinical & Experimental Ophthalmology

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

20

NotI Linking Clones as a Tool for Joining Physical and Genetic Maps of the Human Genome

Rando L. Allikmets, Vladimir I. Kashuba, Bertil Pettersson, Rinat Gizatullin, Tatyana Lebedeva, Irina D. Kholodnyuk, Vladimir M. Bannikov, Nikolai Petrov, Vladimir M. Zakharyev, Gösta Winberg, William

Journal:

Year:

1994

File:

PDF, 533 KB

1994

21

Construction of Representative NotI Linking Libraries Specific for the Total Human Genome and for Human Chromosome 3

Eugene R. Zabarovsky, Rando Allikmets, Irina Kholodnyuk, Veronika I. Zabarovska, Niklas Paulsson, Vladimir M. Bannikov, Vladimir I. Kashuba, Michael Dean, Lev L. Kisselev, George Klein

Journal:

Year:

1994

File:

PDF, 397 KB

1994

22

Isolation and Chromosomal Mapping of a Novel ATP-Binding Cassette Transporter Conserved in Mouse and Human

Stéphane Savary, Rando Allikmets, Francois Denizot, Marie-Françoise Luciani, Marie-Geneviève Mattei, Michael Dean, Giovanna Chimini

Journal:

Year:

1997

Language:

english

File:

PDF, 190 KB

english, 1997

23

The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration

Kang Zhang, Marina Kniazeva, Amy Hutchinson, Min Han, Michael Dean, Rando Allikmets

Journal:

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

24

Evolution of ATP-binding cassette transporter genes

Michael Dean, Rando Allikmets

Journal:

Current Opinion in Genetics & Development

Year:

1995

Language:

english

File:

PDF, 641 KB

english, 1995

25

A Novel Mutation and Phenotypes in Phosphodiesterase 6 Deficiency

Stephen H. Tsang, Irena Tsui, Chai Lin Chou, Jana Zernant, Eneli Haamer, Reza Iranmanesh, Joaquin Tosi, Rando Allikmets

Journal:

American Journal of Ophthalmology

Year:

2008

Language:

english

File:

PDF, 2.47 MB

english, 2008

26

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive Cone–Rod Dystrophy

Sirichai Pasadhika, Gerald A. Fishman, Rando Allikmets, Edwin M. Stone

Journal:

American Journal of Ophthalmology

Year:

2009

Language:

english

File:

PDF, 932 KB

english, 2009

27

Preimplantation Genetic Diagnosis for Stargardt Disease

Mahsa A. Sohrab, Rando Allikmets, Michael M. Guarnaccia, R. Theodore Smith

Journal:

American Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 1.14 MB

english, 2010

28

Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison With Retinitis Pigmentosa

Royce W.S. Chen, Jonathan P. Greenberg, Margot A. Lazow, Rithu Ramachandran, Luiz H. Lima, John C. Hwang, Carl Schubert, Alexandra Braunstein, Rando Allikmets, Stephen H. Tsang

Journal:

American Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 6.13 MB

english, 2012

29

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy

Wener Cella, Vivienne C. Greenstein, Jana Zernant-Rajang, Theodore R. Smith, Gaetano Barile, Rando Allikmets, Stephen H. Tsang

Journal:

Experimental Eye Research

Year:

2009

Language:

english

File:

PDF, 718 KB

english, 2009

30

Loss of peripapillary sparing in non-group I Stargardt disease

Tomas R. Burke, Rando Allikmets, R. Theodore Smith, Peter Gouras, Stephen H. Tsang

Journal:

Experimental Eye Research

Year:

2010

Language:

english

File:

PDF, 1.35 MB

english, 2010

31

Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis

Michael A. Dyer, Stacy L. Donovan, Jiakun Zhang, Jonathan Gray, Angelica Ortiz, Rebeca Tenney, Jian Kong, Rando Allikmets, Melanie M. Sohocki

Journal:

Molecular Brain Research

Year:

2004

Language:

english

File:

PDF, 1.03 MB

english, 2004

32

Three Major Loci Involved in Age-Related Macular Degeneration Are Also Associated with Polypoidal Choroidal Vasculopathy

Luiz H. Lima, Carl Schubert, Daniela C. Ferrara, Joanna E. Merriam, Yutaka Imamura, K. Bailey Freund, Richard F. Spaide, Lawrence A. Yannuzzi, Rando Allikmets

Journal:

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

33

A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease

Kang Zhang, Daniel C Garibaldi, Marina Kniazeva, Thomas Albini, Michael F Chiang, Michelle Kerrigan, Janet S Sunness, Min Han, Rando Allikmets

Journal:

American Journal of Ophthalmology

Year:

1999

Language:

english

File:

PDF, 612 KB

english, 1999

34

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial

Noah F Shroyer, Richard Alan Lewis, Rando Allikmets, Nanda Singh, Michael Dean, Mark Leppert, James R Lupski

Journal:

Vision Research

Year:

1999

Language:

english

File:

PDF, 293 KB

english, 1999

35

The SERPING1 gene and age-related macular degeneration

Rando Allikmets, Michael Dean, Gregory S Hageman, Paul N Baird, Caroline C Klaver, Arthur A Bergen, Bernhard H Weber

Journal:

Year:

2009

Language:

english

File:

PDF, 75 KB

english, 2009

36

Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull’s-eye maculopathy

Johanna M Seddon, Mehran A Afshari, Sanjay Sharma, Paul S Bernstein, Sandy Chong, Amy Hutchinson, Konstantin Petrukhin, Rando Allikmets

Journal:

Year:

2001

Language:

english

File:

PDF, 353 KB

english, 2001

37

Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12

Jaana Tammur, Catherine Prades, Isabelle Arnould, Andrey Rzhetsky, Amy Hutchinson, Masashi Adachi, John D. Schuetz, Kathryn J. Swoboda, Louis J. Ptácek, Marie Rosier, Michael Dean, Rando Allikmets

Journal:

Year:

2001

Language:

english

File:

PDF, 632 KB

english, 2001

38

Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

J. Claiborne Stephens, David E. Reich, David B. Goldstein, Hyoung Doo Shin, Michael W. Smith, Mary Carrington, Cheryl Winkler, Gavin A. Huttley, Rando Allikmets, Lynn Schriml, Bernard Gerrard, Michael

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 272 KB

english, 1998

39

Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease

Richard Alan Lewis, Noah F. Shroyer, Nanda Singh, Rando Allikmets, Amy Hutchinson, Yixin Li, James R. Lupski, Mark Leppert, Michael Dean

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 2.79 MB

english, 1999

40

Simple and Complex ABCR: Genetic Predisposition to Retinal Disease

Rando Allikmets

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 79 KB

english, 2000

41

Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration

Rando Allikmets

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

42

An improved technique for the efficient construction of gene libraries by partial filling-in of cohesive ends

Zabarovsky, Eugene R., Allikmets, Rando L.

Journal:

Year:

1986

Language:

english

File:

PDF, 362 KB

english, 1986

43

Fine central macular dots associated with childhood-onset Stargardt Disease

Fujinami, Kaoru, Singh, Ravjit, Carroll, Joseph, Zernant, Jana, Allikmets, Rando, Michaelides, Michel, Moore, Anthony T.

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 160 KB

english, 2014

44

Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation †

Maiti, Pranab, Kong, Jian, Kim, So Ra, Sparrow, Janet R., Allikmets, Rando, Rando, Robert R.

Journal:

Year:

2006

Language:

english

File:

PDF, 298 KB

english, 2006

45

Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in theGUCA1Agene

Nong, Eva, Lee, Winston, Merriam, Joanna E., Allikmets, Rando, Tsang, Stephen H.

Journal:

Documenta Ophthalmologica

Year:

2014

Language:

english

File:

PDF, 691 KB

english, 2014

46

ABC Proteins || ABC Transporters and Human Eye Disease

Allikmets, Rando

Year:

2003

Language:

english

File:

PDF, 717 KB

english, 2003

47

Cloning and organization of the abc and mdl genes of Escherichia coli: relationship to eukaryotic multidrug resistance

Allikmets, Rando, Gerrard, Bernard, Court, Don, Dean, Michael

Journal:

Year:

1993

Language:

english

File:

PDF, 650 KB

english, 1993

48

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

Tsang, Stephen H., Burke, Tomas, Oll, Maris, Yzer, Suzanne, Lee, Winston, Xie, Yajing (Angela), Allikmets, Rando

Journal:

Year:

2014

Language:

english

File:

PDF, 2.64 MB

english, 2014

49

Regulatory elements and transcriptional regulation by testosterone and retinoic acid of the rat nerve growth factor receptor promoter

Metsis, Madis, Timmusk, Tõnis, Allikmets, Rando, Saarma, Mart, Persson, Håkan

Journal:

Year:

1992

Language:

english

File:

PDF, 1013 KB

english, 1992

50

Inclusion of Genotype with Fundus Phenotype Improves Accuracy of Predicting Choroidal Neovascularization and Geographic Atrophy

Perlee, Lorah T., Bansal, Aruna T., Gehrs, Karen, Heier, Jeffrey S., Csaky, Karl, Allikmets, Rando, Oeth, Paul, Paladino, Toni, Farkas, Daniel H., Rawlings, P. Lyle, Hageman, Gregory S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.32 MB

english, 2013