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1

Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene IMPDH1 Cause Retina-Specific Photoreceptor Degeneration?

Bowne, Sara J., Liu, Qin, Sullivan, Lori S., Zhu, Jingya, Spellicy, Catherine J., Rickman, Catherine Bowes, Pierce, Eric A., Daiger, Stephen P.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 990 KB

english, 2006

2

GENETICS: Was the Human Genome Project Worth the Effort?

Journal:

Year:

2005

Language:

english

File:

PDF, 187 KB

english, 2005

3

Understanding the genetic architecture of human retinal degenerations

Hejtmancik, J. Fielding, Daiger, Stephen P.

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

File:

PDF, 502 KB

2020

4

Iridium-Catalyzed Enantioselective and Diastereoselective Hydrogenation of 1,3-Disubstituted Isoquinolines

Kim, Alexia, Ngamnithiporn, Aurapat, Welin, Eric R, Daiger, Martin, GrÃ¼nanger, Christian, Bartberger, Michael D., Virgil, Scott C, Stoltz, Brian M.

Journal:

Year:

2020

File:

PDF, 702 KB

2020

5

Varieties of liberalism: A comparative analysis of family policy and poverty outcomes across the 50 United States

Daiger von Gleichen, Rosa, Parolin, Zachary

Journal:

Social Policy & Administration

Year:

2020

File:

PDF, 2.00 MB

2020

6

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperst

Journal:

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

7

Deletion mapping of polymorphic loci by apparent parental exclusion

Dr. Stephen P. Daiger, Aravinda Chakravarti, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 305 KB

english, 1983

8

Clinical variability and genetic heterogeneity within the Acadian Usher population

Richard J. H. Smith, Mary Z. Pelias, Stephen P. Daiger, Bronya Keats, William Kimberling, J. Fielding Hejtmancik

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 495 KB

english, 1992

9

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia

Dr. Jacqueline T. Hecht, Susan H. Blanton, Yaping Wang, Steve P. Daiger, William A. Horton, Craig Rhodes, Yoshihiho Yamada, Clair A. Francomano

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 422 KB

english, 1992

10

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis

Li Ni, Michael J. Wagner, William J. Kimberling, Marcus E. Pembrey, Kenneth M. Grundfast, Shrawan Kumar, Stephen P. Daiger, Dan E. Wells, Kristin Johnson, Richard J. H. Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 522 KB

english, 1994

11

Survival of Texas infants born with trisomies 21, 18, and 13

Catherine Vendola, Mark Canfield, Stephen P. Daiger, Michael Gambello, S. Shahrukh Hashmi, Terri King, Sarah J. Noblin, D. Kim Waller, Jacqueline T. Hecht

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 102 KB

english, 2010

12

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

Dr. Huda Y. Zoghbi, Marilyn S. Pollack, Leslie A. Lyons, Robert E. Ferrell, Stephen P. Daiger, Arthur L. Beaudet

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 517 KB

english, 1988

13

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

Joseph A. Rodriguez, Carlos A. Herrera, David G. Birch, Stephen P. Daiger

Journal:

Year:

1993

Language:

english

File:

PDF, 716 KB

english, 1993

14

Evolution of nuclear gene families in primates, Copy-number variation in the argininosuccinate synthetase (ASS) pseudogene family and the anonymous DNA sequence, D1S1

Stephen P. Daiger, Maureen E. Goode, Barbara D. Trowbridge

Journal:

Year:

1987

Language:

english

File:

PDF, 628 KB

english, 1987

15

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

Rachel E. McGuire, Alexandra M. Gannon, Lori S. Sullivan, Joseph A. Rodriguez, Stephen P. Daiger

Journal:

Year:

1995

Language:

english

File:

PDF, 344 KB

english, 1995

16

Standardization of nomenclature for transcobalamin II variants

Marijke Fràter-Schröder, Henk J. Porck, Aldur W. Eriksson, Stephen P. Daiger, Luca L. Cavalli-Sforza

Journal:

Year:

1982

Language:

english

File:

PDF, 151 KB

english, 1982

17

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

Ranaiit Chakraborty, Alan S. Lidsky, Stephen P. Daiger, Flemming Güttler, Susan Sullivan, Anthony G. Dilella, Savio L. C. Woo

Journal:

Year:

1987

Language:

english

File:

PDF, 817 KB

english, 1987

18

Human thyroxine-binding globulin (TBG): Heterogeneity within individuals and among individuals demonstrated by isoelectric focusing

Stephen P. Daiger, Robert S. Wildin

Journal:

Biochemical Genetics

Year:

1981

Language:

english

File:

PDF, 593 KB

english, 1981

19

X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG) in baboons and screening of additional primates

David H. Lockwood, Dorian H. Coppenhaver, Robert E. Ferrell, Stephen P. Daiger

Journal:

Biochemical Genetics

Year:

1984

Language:

english

File:

PDF, 372 KB

english, 1984

20

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

Melanie M. Sohocki, Lori S. Sullivan, Dayna L. Tirpak, Stephen P. Daiger

Journal:

Mammalian Genome

Year:

2001

Language:

english

File:

PDF, 399 KB

english, 2001

21

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

Su-Ying Xu, Michael Denton, Lori Sullivan, Stephen P. Daiger, A. Gal

Journal:

Year:

1996

Language:

english

File:

PDF, 44 KB

english, 1996

22

10.1038/10314

Sullivan, Lori S., Heckenlively, John R., Bowne, Sara J., Zuo, Jian, Hide, Winston A., Gal, Andreas, Denton, Michael, Inglehearn, Chris F., Blanton, Susan H., Daiger, Stephen P.

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

23

Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase

Daiger, S. P., Wildin, R. S., Su, T.-S.

Journal:

Year:

1982

File:

PDF, 449 KB

1982

24

10.1038/71732

Daiger, Stephen P., Sohocki, Melanie M., Bowne, Sara J., Sullivan, Lori S., Blackshaw, Seth, Cepko, Constance L., Payne, Annette M., Bhattacharya, Shomi S., Khaliq, Shagufta, Qasim Mehdi, S., Birch, D

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 989 KB

english, 2000

25

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Köhn, Linda, Bowne, Sara J, S Sullivan, Lori, Daiger, Stephen P, Burstedt, Marie SI, Kadzhaev, Konstantin, Sandgren, Ola, Golovleva, Irina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

26

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

Wu, D M, Khanna, H, Atmaca-Sonmez, P, Sieving, P A, Branham, K, Othman, M, Swaroop, A, Daiger, S P, Heckenlively, J R

Journal:

Year:

2009

Language:

english

File:

PDF, 886 KB

english, 2009

27

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

Chen Zhao, Deepti L. Bellur, Shasha Lu, Feng Zhao, Michael A. Grassi, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Li Jia Chen, Chi Pui Pang, Kanxing Zhao, Jonathan P. Staley, Catharina Larsson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 739 KB

english, 2009

28

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

S. Amer Riazuddin, Muhammad Iqbal, Yue Wang, Tomohiro Masuda, Yuhng Chen, Sara Bowne, Lori S. Sullivan, Naushin H. Waseem, Shomi Bhattacharya, Stephen P. Daiger, Kang Zhang, Shaheen N. Khan, Sheikh Ri

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 994 KB

english, 2010

29

590: The influence of race on the rate of abnormal serum screens

Alyssa Knisley, Manju Monga, Terri King, Stephen Daiger, Melissa Strassberg, Jennifer Hoskovec

Journal:

American Journal of Obstetrics and Gynecology

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

30

Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications

R. CHAKRABORTY, M. DE ANDRADE, S. P. DAIGER, B. BUDOWLE

Journal:

Annals of Human Genetics

Year:

1992

Language:

english

File:

PDF, 824 KB

english, 1992

31

Localization of Retina/Pineal-Expressed Sequences: Identification of Novel Candidate Genes for Inherited Retinal Disorders

Melanie M. Sohocki, Kimberly A. Malone, Lori S. Sullivan, Stephen P. Daiger

Journal:

Year:

1999

Language:

english

File:

PDF, 49 KB

english, 1999

32

Human Glutamate Pyruvate Transaminase (GPT): Localization to 8q24.3, cDNA and Genomic Sequences, and Polymorphic Sites

Melanie M. Sohocki, Lori S. Sullivan, Wilbur R. Harrison, Erica J. Sodergren, Frederick F.B. Elder, George Weinstock, Sumio Tanase, Stephen P. Daiger

Journal:

Year:

1997

Language:

english

File:

PDF, 307 KB

english, 1997

33

Localization and Characterization of the Human ADP-Ribosylation Factor 5 (ARF5) Gene

Rachel E. McGuire, Stephen P. Daiger, Eric D. Green

Journal:

Year:

1997

Language:

english

File:

PDF, 160 KB

english, 1997

34

Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

Richard W. Yee, Lori S. Sullivan, Hong T. Lai, E.Lee Stock, Yuhun Lu, Mohammed N. Khan, Susan H. Blanton, Stephen P. Daiger

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

35

Using a classification of occupations to describe age, sex, and time differences in employment patterns

Gary D Gottfredson, Denise C Daiger

Journal:

Journal of Vocational Behavior

Year:

1977

Language:

english

File:

PDF, 1023 KB

english, 1977

36

Familial aggregation of coronary heart disease and its relation to known genetic risk factors

Leo P. ten Kate, Helge Boman, Stephen P. Daiger, Arno G. Motulsky

Journal:

The American Journal of Cardiology

Year:

1982

Language:

english

File:

PDF, 1.30 MB

english, 1982

37

Increased frequency of coronary heart disease in relatives of wives of myocardial infarct survivors: Assortative mating for lifestyle and risk factors?

Leo P. ten Kate, Helge Boman, Stephen P. Daiger, Arno G. Motulsky

Journal:

The American Journal of Cardiology

Year:

1984

Language:

english

File:

PDF, 651 KB

english, 1984

38

The human apolipoprotein B-100 gene: A highly polymorphic gene that maps to the short arm of chromosome 2

L. Chan, P. VanTuinen, D.H. Ledbetter, S.P. Daiger, A.M. Gotto Jr., S.H. Chen

Journal:

Biochemical and Biophysical Research Communications

Year:

1985

Language:

english

File:

PDF, 827 KB

english, 1985

39

Retinal isoforms of inosine 5′-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins

Dong Xu, Garrett Cobb, Catherine J. Spellicy, Sara J. Bowne, Stephen P. Daiger, Lizbeth Hedstrom

Journal:

Archives of Biochemistry and Biophysics

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

40

Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

Petra Kozma, Dianna K. Hughbanks-Wheaton, Kirsten G. Locke, Garry E. Fish, Anisa I. Gire, Catherine J. Spellicy, Lori S. Sullivan, Sara J. Bowne, Stephen P. Daiger, David G. Birch

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 621 KB

english, 2005

41

Was the Human Genome Project worth the effort?

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 38 KB

english, 2005

42

Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci

Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, Kent Small, Robert E. Ferrell, Stephen P. Daiger

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 69 KB

english, 1997

43

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Gen 2000;24:79–83.

M.M Sohoki, S.J Browne, L.S Sullivan, S Blackshaw, C.L Cepko, A.M Payne, S.S Bhattacharya, S Khaliq, S.Q Mehdi, D.G Birch, W.R Harrison, F.F.B Elder, J.R Heckenlively, S.P Daiger

Journal:

American Journal of Ophthalmology

Year:

2000

Language:

english

File:

PDF, 138 KB

english, 2000

44

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina

Jonathan E Sears, Thomas A Aaberg Sr, Stephen P Daiger, Darius M Moshfeghi

Journal:

American Journal of Ophthalmology

Year:

2001

Language:

english

File:

PDF, 305 KB

english, 2001

45

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

Lori S Sullivan, Stephen P Daiger

Journal:

Molecular Medicine Today

Year:

1996

Language:

english

File:

PDF, 755 KB

english, 1996

46

A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene

Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner, David Birch, John R. Heckenlively, Carol L. Freund, Roderick R. McInnes, Stephen P. Daiger

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 838 KB

english, 1998

47

Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Alan J. Mears, Suja Hiriyanna, Raf Vervoort, Beverly Yashar, Linn Gieser, Stacey Fahrner, Stephen P. Daiger, John R. Heckenlively, Paul A. Sieving, Alan F. Wright, Anand Swaroop

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 864 KB

english, 2000

48

Inherited retinal diseases in humans

Stephen P Daiger

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 72 KB

english, 2000

49

Genes and mutations causing retinitis pigmentosa

Daiger, S P, Sullivan, L S, Bowne, S J

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 281 KB

english, 2013

50

Retina || Genetic Mechanisms of Retinal Disease

Daiger, Stephen P.

Year:

2013

Language:

english

File:

PDF, 526 KB

english, 2013

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