Thaddeus Dryja Explained

Birth Place:Cleveland, Ohio
Workplaces:
Alma Mater:
Known For:Discovery of the Rb tumor suppressor gene and the rhodopsin gene as a cause of retinitis pigmentosa.
Awards:1970 Runk Award, Yale College

1972 Bergmann Award, Yale College

1987 and 1998 Alcon Awards, Alcon Research Institute

1988 David Cogan Award, Association for Research in Vision and Ophthalmology

1990 Franceschetti Medal, International Society for Genetic Eye Disease

1991 Doyne Medal, Oxford Ophthalmological Congress

1993 Rosenthal Award, Macula Society

1998 Waardenburg Medal, International Ophthalmology Congress

2006 Herman Wacker Prize, Club Jules Gonin

2018 Helen Keller Award, Bright Focus Foundation

Spouses:)-->

Thaddeus P. Dryja is an American ophthalmologist and geneticist known for his role in the 1986 discovery of the retinoblastoma (Rb) tumor suppressor gene.[1] and the 1990 discovery of mutations in the rhodopsin gene as the cause of autosomal dominant retinitis pigmentosa (the first identified gene for non-syndromic retinitis pigmentosa).   He was the David G. Cogan Professor of Ophthalmology at Harvard University and was the Global Head of Ophthalmology Research at Novartis. He was elected a member of the National Academy of Sciences in 1996.[2]

Education

Dryja graduated from Yale College in 1972 with a B.A. in chemistry and from Yale University Medical School with an MD in 1976. He interned at Waterbury Hospital in Connecticut from 1976 to 1977. He was a research fellow in experimental eye pathology at the Massachusetts Eye and Ear Infirmary, Harvard Medical School from 1977 to 1978. He completed an ophthalmology residency at Harvard Medical School in 1981. From 1981 to 1983 he was a research fellow in genetics and ophthalmology at the Children's Hospital Medical Center, Harvard Medical School.[3]

Career

In 1983 Dryja joined the faculty of the Department of Ophthalmology at Harvard Medical School, becoming a full professor in 1992. In 1992 he also became director of the David G. Cogan Pathology Laboratory at the Massachusetts Eye and Ear Infirmary. In 1993 he became the David Glendenning Cogan Professor of Ophthalmology at Harvard Medical School.

In 1996 Dryja was elected to the American National Academy of Sciences.[4] The citation states that "Dryja is a pioneer in the molecular genetics of human eye disease. He has made seminal discoveries relating to the pathogenesis of retinoblastoma and retinitis pigmentosa and identified the mutant genes causing these conditions".[5] His inaugural article was "Gene-based approach to human gene-phenotype correlations".[6]

In 2006 Dryja became the head of Translational Medicine in Ophthalmology at Novartis Institutes for Biomedical Research (NIBR) in Cambridge, Massachusetts. From 2009 to 2017 he was the global head of ophthalmology research,[7] In 2017 he returned to Harvard Medical School as a Professor of Ophthalmology. He currently holds that position and is also the Associate Director of the Cogan Eye Pathology Laboratory at the Mass Eye and Ear, a hospital in the Mass General Brigham integrated healthcare system.

Research accomplishments

Dryja started his research career in 1981 by applying the fledgling field of human molecular genetics to the study of retinoblastoma, a cancer of the retina that arises in childhood.  As a recently trained ophthalmologist, he interacted with ophthalmic surgeons in the northeast USA to personally obtain blood and tumor samples from children with retinoblastoma who had eyes enucleated as part of their therapy.  He concurrently developed assays for polymorphic loci on chromosome 13,[8] [9] a chromosome of interest because prior publications showed elevated risk for retinoblastoma associated with deletions of chromosome 13.  Dryja found that most tumors had lost a copy of chromosome 13, thus providing the first evidence that homozygosity of the chromosome, and necessarily of the retinoblastoma gene, was a key step in oncogenesis.  The results solidified the concept of a tumor suppressor gene that normally acts to prevent cancer and only predisposes to cancer when it is inactivated by mutations. This was compelling evidence for the recessive nature of tumor suppressor genes that was proposed by Alfred Knudson (the 2-hit hypothesis) decades earlier based on epidemiologic data.  The discovery of homozygosity of chromosome 13 was contemporaneously and independently discovered by Brenda Gallie, Rosaline Godbout, and Robert Phillips in Toronto and by Webster Cavenee and Ray White’s group in Salt Lake City, and the data was published in a set of co-authored papers in 1983 and 1984.[10] [11] [12] Numerous tumor suppressor genes have since been identified and found to play a key role in most human cancers.

Dryja subsequently found a retinoblastoma that was homozygous for a deletion that encompassed an already cloned DNA segment with the arbitrary laboratory name H3-8.[13]   During a chromosome walk from that fragment to clone nearby DNA, Dryja found a genomic fragment with a sequence that was conserved between human and rodent DNA, indicating that it might include a transcriptional unit.  The conserved DNA fragment was shared with Stephen Friend and colleagues in Robert Weinberg’s group at MIT, and with that fragment as a probe they isolated a corresponding cDNA sequence derived from mRNA normally expressed in retina and other tissues and that hybridized to the conserved sequence.  Using that cDNA segment as a probe of the genome, Dryja found that its sequence was from a transcriptional unit that was deleted in many retinoblastomas, with some having homozygous deletions extending off the 5’ end of the gene, others off the 3’ end, and others being internal deletions. This was compelling evidence that the transcript was the retinoblastoma gene.[14]     Subsequent work identified point mutations that inactivated the gene in retinoblastomas and other tumors.[15] [16] Dryja’s lab later cloned the entire transcriptional unit and sequenced it.[17] [18] The lab found polymorphic sites within the gene, and Janey Wiggs used those polymorphisms to predict risk for retinoblastoma among families with the disease.[19]   This was the first demonstration of DNA testing to predict cancer risk in humans. Dryja's group was the first to show that the retinoblastoma gene could also be inactivated and made oncogenic through mutations of the promoter of the gene[20] or by abnormal hypermethylation of the promoter without a mutation.[21]  Dryja showed that new germline mutations of the retinoblastoma gene usually arose on the paternal gene copy, indicating that new mutations arise more commonly during spermatogenesis than oogenesis.[22]

From the late 1980’s to the mid-2000’s, Dryja gradually shifted his research to focus on hereditary, blinding photoreceptor diseases such retinitis pigmentosa.  He collaborated with Eliot Berson, MD, who directed the Berman-Gund Laboratory[23] in the same building as Dryja’s laboratory.  Berson had a large practice devoted to the diagnosis, care, and study of patients with retinal degenerations, and thousands of his patients donated blood samples for the genetics research with Dryja.  Dryja searched for mutations in patients in genes specifically expressed in photoreceptors.  In 1990, the group reported mutations in the rhodopsin gene as a cause of dominant retinitis pigmentosa.[24] [25] This was the first discovery of a gene causing nonsyndromic retinitis pigmentosa. In subsequent years, Dryja’s group continued analyzing candidate genes to identify additional genes causing other forms of retinitis pigmentosa as well as other hereditary photoreceptor diseases.  New phenotypes were also discovered in disease genes first discovered by other groups. The diseases included a form of retinitis pigmentosa with hitherto unrecognized digenic inheritance[26] and forms of congenital stationary night blindness in which night vision is absent but daytime vision is normal.[27] [28] Dryja also discovered patients with mutations causing a novel form of abnormal vision he named bradyopsia due to photoreceptors having a slow recovery after light exposure.[29]   When at the Novartis Institutes of Biomedical Research, his group developed a gene therapy for one form of retinal degeneration.[30]

Tabulation of novel gene discoveries!Gene Symbol!Year!Disease
RB11986retinoblastoma
RHO199019921993dominant retinitis pigmentosarecessive retinitis pigmentosa[31] dominant stationary night blindness[32]
PDE6B1993recessive retinitis pigmentosa[33]
ROM11994digenic retinitis pigmentosa[34]
PRPH2 (RDS)1994digenic retinitis pigmentosa
PDE6A1995recessive retinitis pigmentosa[35]
CNGA11995recessive retinitis pigmentosa[36]
GNAT11996dominant stationary night blindness (Nougaret form)[37]
GRK11997recessive stationary night blindness (Oguchi form)[38]
TULP11998recessive retinitis pigmentosa[39]
RP11999dominant retinitis pigmentosa[40]
RDH51999fundus albipunctatus[41]
RPGRIP12001congenital retinal blindness[42]
RGS92004bradyopsia[43]
RGS9BP (R9AP)2004bradyopsia
GRM62005recessive stationary night blindness (Schubert-Bornshein type)[44]
IDH32008recessive retinitis pigmentosa[45]
Gene discoveries contemporaneous with other groups’ discoveries (within 6 months) or new phenotypes in genes discovered by other groups!Gene!Year!Disease
RPE651998recessive retinitis pigmentosa[46]
RLBP11999retinitis punctata albescens[47]
NR2E32004 recessive retinitis pigmentosa (enhanced S-cone syndrome)[48]
Gene discovery subsequently found to be due instead to a closely linked gene!Gene!Year!Disease
RGR1999recessive retinitis pigmentosa[49] [50]
Discoveries of novel mechanisms of genetic disease!Year!Mechanism
1983Development of homozygosity in somatic cells as a key oncogenic event
1989New germline mutations arise more frequently in sperm than ova
1991Promoter region mutations can be oncogenic
1991Hypermethylation of an oncogene without a mutation can be oncogenic
1994Digenic inheritance: human disease due to a combination of mutations in two genes
1997Penetrance of dominant PRPF31 mutations is due to variation of the fellow allele[51]
1998Somatic and germline mosaicism is not rare in families with retinoblastoma[52]
1999Somatic recombination map of a chromosome arm[53]
2002Uniparental disomy causing retinitis pigmentosa[54]

Selected papers

External links

Notes and References

  1. Book: Siddhartha Mukherjee . The Emperor of All Maladies: A Biography of Cancer . 2011 . Simon and Schuster . 978-1-4391-7091-5 . 376–380 .
  2. News: Thomas Durso . National Academy of Sciences' Class of 1996 Sets New Record . The Scientist . May 1996.
  3. Web site: Biographical Sketch – Thaddeus P. Dryja . 26 June 2017.
  4. Web site: Thaddeus P. Dryja . National Academy of Sciences . 26 June 2017.
  5. Web site: Ophthalmology – Thaddeus P. Dryja . National Academy of Sciences . 26 June 2017.
  6. Thaddeus P. Dryja . Gene-based approach to human gene-phenotype correlations . Proceedings of the National Academy of Sciences . 1997 . 94 . 22 . 12117–12121 . 10.1073/pnas.94.22.12117. 23721 . 9342372. 1997PNAS...9412117D . free .
  7. George B. Bartley . Interview with Thaddeus P. Dryja, MD . Archives of Ophthalmology . 2012 . 130 . 1 . 111–2 . 10.1001/archophthalmol.2011.382. 22232480 .
  8. Dryja . T. P. . Rapaport . J. M. . Weichselbaum . R. . Bruns . G. A. P. . February 1984 . Chromosome 13 restriction fragment length polymorphisms . Human Genetics . en . 65 . 4 . 320–324 . 10.1007/BF00291555 . 6319270 . 0340-6717.
  9. Dryja . T. P. . Morton . C. C. . November 1985 . Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization . Human Genetics . en . 71 . 3 . 192–195 . 10.1007/BF00284571 . 4065891 . 0340-6717.
  10. Godbout . R. . Dryja . T. P. . Squire . J. . Gallie . B. L. . Phillips . R. A. . August 1983 . Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma . Nature . en . 304 . 5925 . 451–453 . 10.1038/304451a0 . 6877367 . 1983Natur.304..451G . 0028-0836.
  11. Cavenee . W. K. . Dryja . T. P. . Phillips . R. A. . Benedict . W. F. . Godbout . R. . Gallie . B. L. . Murphree . A. L. . Strong . L. C. . White . R. L. . October 1983 . Expression of recessive alleles by chromosomal mechanisms in retinoblastoma . Nature . en . 305 . 5937 . 779–784 . 10.1038/305779a0 . 6633649 . 1983Natur.305..779C . 0028-0836.
  12. Dryja . Thaddeus P. . Cavenee . Webster . White . Raymond . Rapaport . Joyce M. . Petersen . Robert . Albert . Daniel M. . Bruns . Gail A. P. . March 1984 . Homozygosity of Chromosome 13 in Retinoblastoma . New England Journal of Medicine . en . 310 . 9 . 550–553 . 10.1056/NEJM198403013100902 . 6694706 . 0028-4793.
  13. Dryja . T P . Rapaport . J M . Joyce . J M . Petersen . R A . October 1986 . Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. . Proceedings of the National Academy of Sciences . en . 83 . 19 . 7391–7394 . 10.1073/pnas.83.19.7391 . free . 2876425 . 386723 . 1986PNAS...83.7391D . 0027-8424.
  14. Friend . Stephen H. . Bernards . Rene . Rogelj . Snezna . Weinberg . Robert A. . Rapaport . Joyce M. . Albert . Daniel M. . Dryja . Thaddeus P. . October 1986 . A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma . Nature . en . 323 . 6089 . 643–646 . 10.1038/323643a0 . 2877398 . 1986Natur.323..643F . 0028-0836.
  15. Horowitz . Jonathan M. . Yandell . David W. . Park . Sang-Ho . Canning . Susan . Whyte . Peter . Buchkovich . Karen . Harlow . Ed . Weinberg . Robert A. . Dryja . Thaddeus P. . 1989-02-17 . Point Mutational Inactivation of the Retinoblastoma Antioncogene . Science . en . 243 . 4893 . 937–940 . 10.1126/science.2521957 . 2521957 . 1989Sci...243..937H . 0036-8075.
  16. Yandell . David W. . Campbell . Tracey A. . Dayton . Siri H. . Petersen . Robert . Walton . David . Little . John B. . McConkie-Rosell . Allyn . Buckley . Edward G. . Dryja . Thaddeus P. . 1989-12-21 . Oncogenic Point Mutations in the Human Retinoblastoma Gene: Their Application to Genetic Counseling . New England Journal of Medicine . en . 321 . 25 . 1689–1695 . 10.1056/NEJM198912213212501 . 2594029 . 0028-4793.
  17. Wiggs . Janey . Nordenskjöld . Magnus . Yandell . David . Rapaport . Joyce . Grondin . Valerie . Janson . Marie . Werelius . Barbro . Petersen . Robert . Craft . Alan . Riedel . Klaus . Liberfarb . Ruth . Walton . David . Wilson . William . Dryja . Thaddeus P. . 1988-01-21 . Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene . New England Journal of Medicine . en . 318 . 3 . 151–157 . 10.1056/NEJM198801213180305 . 2892131 . 0028-4793.
  18. Toguchida . Junya . McGee . Terri L. . Paterson . Jennifer C. . Eagle . Janine R. . Tucker . Stephanie . Yandell . David W. . Dryja . Thaddeus P. . September 1993 . Complete Genomic Sequence of the Human Retinoblastoma Susceptibility Gene . Genomics . en . 17 . 3 . 535–543 . 10.1006/geno.1993.1368. 7902321 .
  19. Wiggs . Janey . Nordenskjöld . Magnus . Yandell . David . Rapaport . Joyce . Grondin . Valerie . Janson . Marie . Werelius . Barbro . Petersen . Robert . Craft . Alan . Riedel . Klaus . Liberfarb . Ruth . Walton . David . Wilson . William . Dryja . Thaddeus P. . 1988-01-21 . Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene . New England Journal of Medicine . en . 318 . 3 . 151–157 . 10.1056/NEJM198801213180305 . 2892131 . 0028-4793.
  20. Sakai . Toshiyuki . Ohtani . Naoko . McGee . Terri L. . Robbins . Paul D. . Dryja . Thaddeus P. . September 1991 . Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene . Nature . en . 353 . 6339 . 83–86 . 10.1038/353083a0 . 1881452 . 1991Natur.353...83S . 0028-0836.
  21. Sakai . T. . Toguchida . J. . Ohtani . N. . Yandell . D. W. . Rapaport . J. M. . Dryja . T. P. . May 1991 . Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene . American Journal of Human Genetics . en . 48 . 5 . 880–888 . 1683063 . 1673287.
  22. Dryja . Thaddeus P. . Mukai . Shizuo . Petersen . Robert . Rapaport . Joyce M. . Walton . David . Yandell . David W. . June 1989 . Parental origin of mutations of the retinoblastoma gene . Nature . en . 339 . 6225 . 556–558 . 10.1038/339556a0 . 2733786 . 1989Natur.339..556D . 0028-0836.
  23. Web site: Berman-Gund Laboratory for the Study of Retinal Degenerations . 2024-11-18 . eye.hms.harvard.edu . en.
  24. Dryja . Thaddeus P. . McGee . Terri L. . Reichel . Elias . Hahn . Lauri B. . Cowley . Glenn S. . Yandell . David W. . Sandberg . Michael A. . Berson . Eliot L. . January 1990 . A point mutation of the rhodopsin gene in one form of retinitis pigmentosa . Nature . en . 343 . 6256 . 364–366 . 10.1038/343364a0 . 2137202 . 1990Natur.343..364D . 0028-0836.
  25. Dryja . Thaddeus P. . McGee . Terri L. . Hahn . Lauri B. . Cowley . Glenn S. . Olsson . Jane E. . Reichel . Elias . Sandberg . Michael A. . Berson . Eliot L. . 1990-11-08 . Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa . New England Journal of Medicine . en . 323 . 19 . 1302–1307 . 10.1056/NEJM199011083231903 . 0028-4793.
  26. Kajiwara . Kazuto . Berson . Eliot L. . Dryja . Thaddeus P. . 1994-06-10 . Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci . Science . en . 264 . 5165 . 1604–1608 . 10.1126/science.8202715 . 8202715 . 1994Sci...264.1604K . 0036-8075.
  27. Dryja . Thaddeus P. . Hahn . Lauri B. . Reboul . Thierry . Arnaud . Bernard . July 1996 . Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness . Nature Genetics . en . 13 . 3 . 358–360 . 10.1038/ng0796-358 . 8673138 . 1061-4036.
  28. Yamamoto . Shuji . Sippel . Kimberly C. . Berson . Eliot L. . Dryja . Thaddeus P. . February 1997 . Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness . Nature Genetics . en . 15 . 2 . 175–178 . 10.1038/ng0297-175 . 9020843 . 1061-4036.
  29. Nishiguchi . Koji M. . Sandberg . Michael A. . Kooijman . Aart C. . Martemyanov . Kirill A. . Pott . Jan W. R. . Hagstrom . Stephanie A. . Arshavsky . Vadim Y. . Berson . Eliot L. . Dryja . Thaddeus P. . January 2004 . Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation . Nature . en . 427 . 6969 . 75–78 . 10.1038/nature02170 . 14702087 . 2004Natur.427...75N . 0028-0836.
  30. Choi . Vivian W . Bigelow . Chad E . McGee . Terri L . Gujar . Akshata N . Li . Hui . Hanks . Shawn M . Vrouvlianis . Joanna . Maker . Michael . Leehy . Barrett . Zhang . Yiqin . Aranda . Jorge . Bounoutas . George . Demirs . John T . Yang . Junzheng . Ornberg . Richard . 2015 . AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice . Molecular Therapy - Methods & Clinical Development . en . 2 . 15022 . 10.1038/mtm.2015.22. 26199951 . 4495722 .
  31. Rosenfeld . Philip J. . Cowley . Glenn S. . McGee . Terri L. . Sandberg . Michael A. . Berson . Eliot L. . Dryja . Thaddeus P. . June 1992 . A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa . Nature Genetics . en . 1 . 3 . 209–213 . 10.1038/ng0692-209 . 1303237 . 1061-4036.
  32. Dryja . Thaddeus P. . Berson . Eliot L. . Rao . Vikram R. . Oprian . Daniel D. . July 1993 . Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness . Nature Genetics . en . 4 . 3 . 280–283 . 10.1038/ng0793-280 . 8358437 . 1061-4036.
  33. McLaughlin . Margaret E. . Sandberg . Michael A. . Berson . Eliot L. . Dryja . Thaddeus P. . June 1993 . Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa . Nature Genetics . en . 4 . 2 . 130–134 . 10.1038/ng0693-130 . 8394174 . 1061-4036.
  34. Kajiwara . Kazuto . Berson . Eliot L. . Dryja . Thaddeus P. . 1994-06-10 . Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci . Science . en . 264 . 5165 . 1604–1608 . 10.1126/science.8202715 . 8202715 . 1994Sci...264.1604K . 0036-8075.
  35. Huang . Sherleen H. . Pittler . Steven J. . Huang . Xizhong . Oliveira . Luanne . Berson . Eliot L. . Dryja . Thaddeus P. . December 1995 . Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesterase . Nature Genetics . en . 11 . 4 . 468–471 . 10.1038/ng1295-468 . 7493036 . 1061-4036.
  36. Dryja . T P . Finn . J T . Peng . Y W . McGee . T L . Berson . E L . Yau . K W . 1995-10-24 . Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. . Proceedings of the National Academy of Sciences . en . 92 . 22 . 10177–10181 . 10.1073/pnas.92.22.10177 . free . 0027-8424 . 40759 . 7479749. 1995PNAS...9210177D .
  37. Dryja . Thaddeus P. . Hahn . Lauri B. . Reboul . Thierry . Arnaud . Bernard . July 1996 . Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness . Nature Genetics . en . 13 . 3 . 358–360 . 10.1038/ng0796-358 . 8673138 . 1061-4036.
  38. Yamamoto . Shuji . Sippel . Kimberly C. . Berson . Eliot L. . Dryja . Thaddeus P. . February 1997 . Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness . Nature Genetics . en . 15 . 2 . 175–178 . 10.1038/ng0297-175 . 9020843 . 1061-4036.
  39. Hagstrom . Stephanie A. . North . Michael A. . Nishina . Patsy M. . Berson . Eliot L. . Dryja . Thaddeus P. . February 1998 . Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa . Nature Genetics . en . 18 . 2 . 174–176 . 10.1038/ng0298-174 . 9462750 . 1061-4036.
  40. Pierce . Eric A. . Quinn . Tracey . Meehan . Terrence . McGee . Terri L. . Berson . Eliot L. . Dryja . Thaddeus P. . July 1999 . Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa . Nature Genetics . en . 22 . 3 . 248–254 . 10.1038/10305 . 10391211 . 1061-4036.
  41. Yamamoto . Hiroyuki . Simon . András . Eriksson . Ulf . Harris . Eddie . Berson . Eliot L. . Dryja . Thaddeus P. . June 1999 . Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus . Nature Genetics . en . 22 . 2 . 188–191 . 10.1038/9707 . 10369264 . 1061-4036.
  42. Dryja . Thaddeus P. . Adams . Scott M. . Grimsby . Jonna L. . McGee . Terri L. . Hong . Dong-Hyun . Li . Tiansen . Andréasson . Sten . Berson . Eliot L. . May 2001 . Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis . The American Journal of Human Genetics . en . 68 . 5 . 1295–1298 . 10.1086/320113. 11283794 . 1226111 .
  43. Nishiguchi . Koji M. . Sandberg . Michael A. . Kooijman . Aart C. . Martemyanov . Kirill A. . Pott . Jan W. R. . Hagstrom . Stephanie A. . Arshavsky . Vadim Y. . Berson . Eliot L. . Dryja . Thaddeus P. . January 2004 . Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation . Nature . en . 427 . 6969 . 75–78 . 10.1038/nature02170 . 14702087 . 2004Natur.427...75N . 0028-0836.
  44. Dryja . Thaddeus P. . McGee . Terri L. . Berson . Eliot L. . Fishman . Gerald A. . Sandberg . Michael A. . Alexander . Kenneth R. . Derlacki . Deborah J. . Rajagopalan . Aruna S. . 2005-03-29 . Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 . Proceedings of the National Academy of Sciences . en . 102 . 13 . 4884–4889 . 10.1073/pnas.0501233102 . free . 0027-8424 . 555731 . 15781871. 2005PNAS..102.4884D .
  45. Hartong . Dyonne T . Dange . Mayura . McGee . Terri L . Berson . Eliot L . Dryja . Thaddeus P . Colman . Roberta F . October 2008 . Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle . Nature Genetics . en . 40 . 10 . 1230–1234 . 10.1038/ng.223 . 1061-4036 . 2596605 . 18806796.
  46. Morimura . Hiroyuki . Fishman . Gerald A. . Grover . Sandeep A. . Fulton . Anne B. . Berson . Eliot L. . Dryja . Thaddeus P. . 1998-03-17 . Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis . Proceedings of the National Academy of Sciences . en . 95 . 6 . 3088–3093 . 10.1073/pnas.95.6.3088 . free . 0027-8424 . 19699 . 9501220. 1998PNAS...95.3088M .
  47. Web site: Supplemental Information 3: Raw data concerning TAGA-LUAD sample aneuploidy scores from literature (PMID: 29622463). . 10.7717/peerj.17545/supp-3 . free .
  48. Nishiguchi . Koji M. . Friedman . James S. . Sandberg . Michael A. . Swaroop . Anand . Berson . Eliot L. . Dryja . Thaddeus P. . 2004-12-21 . Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function . Proceedings of the National Academy of Sciences . en . 101 . 51 . 17819–17824 . 10.1073/pnas.0408183101 . free . 0027-8424 . 535407 . 15591106. 2004PNAS..10117819N .
  49. Morimura . Hiroyuki . Saindelle-Ribeaudeau . Florence . Berson . Eliot L . Dryja . Thaddeus P . December 1999 . Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa . Nature Genetics . en . 23 . 4 . 393–394 . 10.1038/70496 . 1061-4036.
  50. Arno . Gavin . Hull . Sarah . Carss . Keren . Dev-Borman . Arundhati . Chakarova . Christina . Bujakowska . Kinga . van den Born . L. Ingeborgh . Robson . Anthony G. . Holder . Graham E. . Michaelides . Michel . Cremers . Frans P. M. . Pierce . Eric . Raymond . F. Lucy . Moore . Anthony T. . Webster . Andrew R. . 2016-09-13 . Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1 . Investigative Opthalmology & Visual Science . en . 57 . 11 . 4806–4813 . 10.1167/iovs.16-19687 . 27623334 . 1552-5783. 2066/168098 . free .
  51. McGee . T.L. . Devoto . M. . Ott . J. . Berson . E.L. . Dryja . T.P. . November 1997 . Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele . The American Journal of Human Genetics . en . 61 . 5 . 1059–1066 . 10.1086/301614 . 1716046 . 9345108.
  52. Sippel . Kimberly C. . Fraioli . Rebecca E. . Smith . Gary D. . Schalkoff . Mary E. . Sutherland . Joanne . Gallie . Brenda L. . Dryja . Thaddeus P. . March 1998 . Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling . The American Journal of Human Genetics . en . 62 . 3 . 610–619 . 10.1086/301766. 9497263 . 1376960 .
  53. Hagstrom . Stephanie A. . Dryja . Thaddeus P. . 1999-03-16 . Mitotic recombination map of 13cen–13q14 derived from an investigation of loss of heterozygosity in retinoblastomas . Proceedings of the National Academy of Sciences . en . 96 . 6 . 2952–2957 . 10.1073/pnas.96.6.2952 . free . 10077618 . 15876 . 1999PNAS...96.2952H . 0027-8424.
  54. Rivolta . Carlo . 2002-11-01 . Paternal Uniparental Heterodisomy With Partial Isodisomy of Chromosome 1 in a Patient With Retinitis Pigmentosa Without Hearing Loss and a Missense Mutation in the Usher Syndrome Type II Gene USH2A . Archives of Ophthalmology . en . 120 . 11 . 1566 . 10.1001/archopht.120.11.1566 . 12427073 . 0003-9950.

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