Elias Nicholas Katsanis

  • 23518 Citations
19952020

Research output per year

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Research Output

1995

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon

Yulug, I. G., Katsanis, N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Jun 1 1995, In : Human molecular genetics. 4, 6, p. 1101-1104 4 p.

Research output: Contribution to journalArticle

62 Scopus citations

An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4

Yulug, I. G., Katsanis, E. N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Aug 1 1995, In : Human molecular genetics. 4, 8, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Erratum: An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 (Human Molecular Genetics 4 (1101-1104))

Yulug, I. G., Katsanis, E. N., De Belleroche, J., Collinge, J. & Fisher, E. M. C., Jan 1 1995, In : Human molecular genetics. 4, 8, 1 p.

Research output: Contribution to journalComment/debate

1996

Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation

Fitzgibbon, J., Katsanis, E. N., Wells, D., Delhanty, J., Vallins, W. & Hunt, D. M., May 6 1996, In : FEBS Letters. 385, 3, p. 185-188 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

Paralogy mapping: Identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci

Katsanis, E. N., Fitzgibbon, J. & Fisher, E. M. C., Jul 1 1996, In : Genomics. 35, 1, p. 101-108 8 p.

Research output: Contribution to journalArticle

130 Scopus citations
14 Scopus citations
1997

Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene

Katsanis, E. N., Yaspo, M. L. & Fisher, E. M. C., Jul 1 1997, In : Mammalian Genome. 8, 7, p. 526-529 4 p.

Research output: Contribution to journalArticle

61 Scopus citations

Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21

Katsanis, E. N., Beck, J. A. & Fisher, E. M. C., Sep 25 1997, In : Human Genetics. 100, 3-4, p. 477-480 4 p.

Research output: Contribution to journalArticle

1998

A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3

Katsanis, E. N. & Fisher, E. M. C., Jan 15 1998, In : Genomics. 47, 2, p. 294-299 6 p.

Research output: Contribution to journalArticle

50 Scopus citations

High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2

Vidal-Taboada, J. M., Bergoñón, S., Sánchez, M., López-Acedo, C., Groet, J., Nizetic, D., Egeo, A., Scartezzini, P., Katsanis, E. N., Fisher, E. M. C., Delabar, J. M. & Oliva, R., Feb 13 1998, In : Biochemical and Biophysical Research Communications. 243, 2, p. 572-578 7 p.

Research output: Contribution to journalArticle

9 Scopus citations
24 Scopus citations

Localisation of receptor interacting protein 140 (RIP140) within 100 kb of D21S13 on 21q11, a gene-poor region of the human genome

Katsanis, E. N., Ives, J. H., Groet, J., Nizetic, D. & Fisher, E. M. C., May 6 1998, In : Human Genetics. 102, 2, p. 221-223 3 p.

Research output: Contribution to journalArticle

11 Scopus citations

The immunophilin FKBP4 (FKBP52/FKBP59) maps to the distal short arm of human Chromosome 12

Bermingham, N. A., Rauf, S., Katsanis, E. N., Martin, J. E., Hunter, A. J. & Fisher, E. M. C., Mar 1 1998, In : Mammalian Genome. 9, 3, 1 p.

Research output: Contribution to journalArticle

6 Scopus citations
1999

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

Katsanis, E. N., Lewis, R. A., Stockton, D. W., Mai, P. M. T., Baird, L., Beales, P. L., Leppert, M. & Lupski, J. R., 1999, In : American journal of human genetics. 65, 6, p. 1672-1679 8 p.

Research output: Contribution to journalArticle

Open Access
40 Scopus citations

High-resolution comparative physical mapping of mouse Chromosome 10 in the region of homology with human Chromosome 21

Cole, S. E., Wiltshire, T., Rue, E. E., Morrow, D., Hieter, P., Brahe, C., Fisher, E. M., Katsanis, E. N. & Reeves, R. H., Aug 26 1999, In : Mammalian Genome. 10, 3, p. 229-234 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998.

Gaudray, P., Carle, G. F., Gerhard, D. S., Gessler, M., Mannens, M. M., Athanasiou, M., Bliek, J., Calender, A., Debelenko, L. V., Devignes, M., Evans, G. A., Favier, R., Forbes, S., Gaudray, G., Gawin, B., Gordon, M., Grimmond, S., Grossfeld, P., Harris, J., Hattori, M. & 5 others, Hosoda, F., Hummerich, H., James, M., Kalla, J. & Katsanis, E. N., Dec 1 1999, In : Cytogenetics and Cell Genetics. 86, 3-4, p. 167-186 20 p.

Research output: Contribution to journalArticle

4 Scopus citations

Sixth International Workshop on Human Chromosome 11 Mapping, Nice, Paris, 2-5 May, 1998

Gaudray, P., Carle, G. F., Gerhard, D. S., Gessler, M., Mannens, M. M., Athanasiou, M., Bliek, J., Calender, A., Debelenko, L. V., Devignes, M. D., Evans, G. A., Favier, R., Forbes, S., Gaudray, G., Gawin, B., Gordon, M., Grimmond, S., Grossfeld, P., Harris, J., Hattori, M. & 26 others, Hosoda, F., Hummerich, H., James, M., Kalla, J., Katsanis, E. N., Little, P., Mattina, T., Negrini, M., Ohki, M., Osborne Lawrence, S., Parente, F., Quincey, D., Raynaud, S., Reid, L., Rethy, L. A., Schuuring, E., Sellar, G., Stilgenbauer, S., Talbot, C., Taschner, P., Thangarajah, T., Tunnacliffe, A., Turc-Carel, C., Van Heyningen, V., Weber, G. & Zabel, B., 1999, In : Cytogenetics and Cell Genetics. 86, 3-4, p. 168-186 19 p.

Research output: Contribution to journalArticle

2 Scopus citations
2000

Identification of novel genes expressed during metanephric induction through single-cell library screening

Abidari, J. M., Gonzales, E. T., Inoue, K., Lupski, J. R., Karsenty, G. & Katsanis, E. N., Jan 1 2000, In : Kidney international. 57, 6, p. 2221-2228 8 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

Katsanis, N., Venable, S., Smith, J. R. & Lupski, J. R., Mar 29 2000, In : Human Genetics. 106, 1, p. 66-72 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Katsanis, E. N., Beales, P. L., Woods, M. O., Lewis, R. A., Green, J. S., Parfrey, P. S., Ansley, S. J., Davidson, W. S. & Lupski, J. R., Sep 1 2000, In : Nature Genetics. 26, 1, p. 67-70 4 p.

Research output: Contribution to journalArticle

246 Scopus citations
2001

An evaluation of the draft human genome sequence

Katsanis, E. N., Worley, K. C. & Lupski, J. R., Sep 12 2001, In : Nature Genetics. 29, 1, p. 88-91 4 p.

Research output: Contribution to journalArticle

28 Scopus citations

Exploring the molecular basis of Bardet-Biedl syndrome

Katsanis, E. N., Lupski, J. R. & Beales, P. L., Oct 1 2001, In : Human molecular genetics. 10, 20, p. 2293-2299 7 p.

Research output: Contribution to journalReview article

114 Scopus citations

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

Katsanis, E. N., Shroyer, N. F., Lewis, R. A., Cavender, J. C., Al-Rajhi, A. A., Jabak, M. & Lupski, J. R., Jul 14 2001, In : Clinical Genetics. 59, 6, p. 424-429 6 p.

Research output: Contribution to journalArticle

44 Scopus citations

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

Beales, P. L., Katsanis, E. N., Lewis, R. A., Ansley, S. J., Elcioglu, N., Raza, J., Woods, M. O., Green, J. S., Parfrey, P. S., Davidson, W. S. & Lupski, J. R., Jan 1 2001, In : American journal of human genetics. 68, 3, p. 606-616 11 p.

Research output: Contribution to journalArticle

Open Access
67 Scopus citations

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis

Badano, J. L., Inoue, K., Katsanis, E. N. & Lupski, J. R., 2001, In : Clinical chemistry. 47, 5, p. 838-843 6 p.

Research output: Contribution to journalArticle

Open Access
34 Scopus citations

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

Inoue, K., Dewar, K., Katsanis, E. N., Reiter, L. T., Lander, E. S., Devon, K. L., Wyman, D. W., Lupski, J. R. & Birren, B., 2001, In : Genome research. 11, 6, p. 1018-1033 16 p.

Research output: Contribution to journalArticle

Open Access
113 Scopus citations

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

Katsanis, E. N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L. & Lupski, J. R., Sep 21 2001, In : Science. 293, 5538, p. 2256-2259 4 p.

Research output: Contribution to journalArticle

449 Scopus citations
2002
Open Access
29 Scopus citations

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

Katsanis, E. N., Eichers, E. R., Ansley, S. J., Lewis, R. A., Kayserili, H., Hoskins, B. E., Scambler, P. J., Beales, P. L. & Lupski, J. R., Jan 1 2002, In : American journal of human genetics. 71, 1, p. 22-29 8 p.

Research output: Contribution to journalArticle

Open Access
86 Scopus citations

Beyond mendel: An evolving view of human genetic disease transmission

Badano, J. L. & Katsanis, E. N., Oct 1 2002, In : Nature Reviews Genetics. 3, 10, p. 779-789 11 p.

Research output: Contribution to journalReview article

261 Scopus citations

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

Eichers, E. R., Green, J. S., Stockton, D. W., Jackman, C. S., Whelan, J., McNamara, J. A., Johnson, G. J., Lupski, J. R. & Katsanis, E. N., Jan 1 2002, In : American journal of human genetics. 70, 4, p. 955-964 10 p.

Research output: Contribution to journalArticle

Open Access
61 Scopus citations
2003

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., Mah, A. K., Johnsen, R. C., Cavender, J. C., Lewis, R. A., Leroux, M. R., Beales, P. L. & Katsanis, E. N., Oct 9 2003, In : Nature. 425, 6958, p. 628-633 6 p.

Research output: Contribution to journalArticle

480 Scopus citations

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

Beales, P. L., Badano, J. L., Ross, A. J., Ansley, S. J., Hoskins, B. E., Kirsten, B., Mein, C. A., Froguel, P., Scambler, P. J., Lewis, R. A., Lupski, J. R. & Katsanis, E. N., May 1 2003, In : American journal of human genetics. 72, 5, p. 1187-1199 13 p.

Research output: Contribution to journalArticle

Open Access
182 Scopus citations

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Beidl patients with two mutations at a second BBS locus

Bandano, J. L., Kim, J. C., Hoskins, B. E., Lewis, R. A., Ansley, S. J., Cutler, D. J., Castellan, C., Beales, P. L., Leroux, M. R. & Katsanis, E. N., Jul 15 2003, In : Human molecular genetics. 12, 14, p. 1651-1659 9 p.

Research output: Contribution to journalArticle

Open Access
145 Scopus citations

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2

Badano, J. L., Ansley, S. J., Leitch, C. C., Lewis, R. A., Lupski, J. R. & Katsanis, E. N., Mar 1 2003, In : American Journal of Human Genetics. 72, 3, p. 650-658 9 p.

Research output: Contribution to journalArticle

Open Access
172 Scopus citations
2004

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May-Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., Lewis, R. A., Green, J. S., Parfrey, P. S., Leroux, M. R., Davidson, W. S., Beales, P. L., Guay-Woodford, L. M., Yoder, B. K., Stormo, G. D., Katsanis, N. & 1 others, Dutcher, S. K., May 14 2004, In : Cell. 117, 4, p. 541-552 12 p.

Research output: Contribution to journalArticle

Open Access
563 Scopus citations

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Kulaga, H. M., Leitch, C. C., Eichers, E. R., Badano, J. L., Lesemann, A., Hoskins, B. E., Lupski, J. R., Beales, P. L., Reed, R. R. & Katsanis, E. N., Sep 1 2004, In : Nature Genetics. 36, 9, p. 994-998 5 p.

Research output: Contribution to journalArticle

243 Scopus citations

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

Blacque, O. E., Reardon, M. J., Li, C., McCarthy, J., Mahjoub, M. R., Ansley, S. J., Badano, J. L., Mah, A. K., Beales, P. L., Davidson, W. S., Johnsen, R. C., Audeh, M., Plasterk, R. H. A., Baillie, D. L., Katsanis, E. N., Quarmby, L. M., Wicks, S. R. & Leroux, M. R., Jul 1 2004, In : Genes and Development. 18, 13, p. 1630-1642 13 p.

Research output: Contribution to journalArticle

Open Access
257 Scopus citations

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Fan, Y., Esmail, M. A., Ansley, S. J., Blacque, O. E., Boroevich, K., Ross, A. J., Moore, S. J., Badano, J. L., May-Simera, H., Compton, D. S., Green, J. S., Lewis, R. A., Van Haelst, M. M., Parfrey, P. S., Baillie, D. L., Beales, P. L., Katsanis, E. N., Davidson, W. S. & Leroux, M. R., Sep 2004, In : Nature Genetics. 36, 9, p. 989-993 5 p.

Research output: Contribution to journalArticle

Open Access
251 Scopus citations

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Kim, J. C., Badano, J. L., Sibold, S., Esmail, M. A., Hill, J., Hoskins, B. E., Leitch, C. C., Venner, K., Ansley, S. J., Ross, A. J., Leroux, M. R., Katsanis, E. N. & Beales, P. L., May 2004, In : Nature Genetics. 36, 5, p. 462-470 9 p.

Research output: Contribution to journalArticle

Open Access
314 Scopus citations

The oligogenic properties of Bardet-Biedl syndrome

Katsanis, E. N., Apr 1 2004, In : Human molecular genetics. 13, REV. ISS. 1

Research output: Contribution to journalReview article

162 Scopus citations

Triallelic inheritance: A bridge between Mendelian and multifactorial traits

Eichers, E. R., Lewis, R. A., Katsanis, E. N. & Lupski, J. R., Jun 30 2004, In : Annals of Medicine. 36, 4, p. 262-272 11 p.

Research output: Contribution to journalReview article

40 Scopus citations
2005

A manually curated functional annotation of the human X chromosome [1]

Harsha, H. C., Suresh, S., Amanchy, R., Deshpande, N., Shanker, K., Yatish, A. J., Muthusamy, B., Vrushabendra, B. M., Rashmi, B. P., Chandrika, K. N., Padma, N., Sharma, S., Badano, J. L., Ramya, M. A., Shivashankar, H. N., Peri, S., Choudhury, D. R., Kavitha, M. P., Saravana, R., Niranjan, V. & 11 others, Gandhi, T. K. B., Ghosh, N., Chandran, S., Menezes, M., Joy, M., Mohan, S. S., Katsanis, E. N., Deshpande, K. S., Raghothama, C., Prasad, C. K. & Pandey, A., Apr 1 2005, In : Nature Genetics. 37, 4, p. 331-332 2 p.

Research output: Contribution to journalLetter

10 Scopus citations

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, E. N., Sharifi, N., Xu, F. L., Myers, L. A., Spevak, P. J., Cameron, D. E., De Backer, J., Hellemans, J., Chen, Y., Davis, E. C., Webb, C. L., Kress, W. & 4 others, Coucke, P., Rifkin, D. B., De Paepe, A. M. & Dietz, H. C., Dec 9 2005, In : Nature Genetics. 37, 3, p. 275-281 7 p.

Research output: Contribution to journalArticle

1106 Scopus citations

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

Moore, S. J., Green, J. S., Fan, Y., Bhogal, A. K., Dicks, E., Fernandez, B. A., Stefanelli, M., Murphy, C., Cramer, B. C., Dean, J. C. S., Beales, P. L., Katsanis, E. N., Bassett, A. S., Davidson, W. S. & Parfrey, P. S., Feb 1 2005, In : American Journal of Medical Genetics. 132 A, 4, p. 352-360 9 p.

Research output: Contribution to journalArticle

165 Scopus citations

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Ross, A. J., May-Simera, H., Eichers, E. R., Kai, M., Hill, J., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P. M., Fisher, S., Tan, P. L., Phillips, H. M., Leroux, M. R., Henderson, D. J., Murdoch, J. N., Copp, A. J., Eliot, M. M., Lupski, J. R., Kemp, D. T., Dollfus, H. & 4 others, Tada, M., Katsanis, E. N., Forge, A. & Beales, P. L., Oct 2005, In : Nature Genetics. 37, 10, p. 1135-1140 6 p.

Research output: Contribution to journalArticle

448 Scopus citations

Erratum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (Nature Genetics (2005) 37 (1135-1140))

Ross, A. J., May-Simera, H., Eichers, E. R., Kai, M., Hill, J., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P. M., Fisher, S., Tan, P. L., Phillips, H. M., Leroux, M. R., Henderson, D. J., Murdoch, J. N., Copp, A. J., Eliot, M. M., Lupski, J. R., Kemp, D. T., Dollfus, H. & 4 others, Tada, M., Katsanis, E. N., Forge, A. & Beales, P. L., Dec 2005, In : Nature Genetics. 37, 12, 1 p.

Research output: Contribution to journalComment/debate

Microtubule transport defects in neurological and ciliary disease

Gerdes, J. M. & Katsanis, E. N., Jul 1 2005, In : Cellular and Molecular Life Sciences. 62, 14, p. 1556-1570 15 p.

Research output: Contribution to journalReview article

29 Scopus citations

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

Kim, J. C., Ou, Y. Y., Badano, J. L., Esmail, M. A., Leitch, C. C., Fiedrich, E., Beales, P. L., Archibald, J. M., Katsanis, E. N., Rattner, J. B. & Leroux, M. R., Mar 1 2005, In : Journal of cell science. 118, 5, p. 1007-1020 14 p.

Research output: Contribution to journalArticle

123 Scopus citations

Small molecule intervention in microtubule-associated human disease

Gerdes, J. M. & Katsanis, N., Oct 15 2005, In : Human molecular genetics. 14, SUPPL. 2, p. R291-R300

Research output: Contribution to journalArticle

Open Access
21 Scopus citations