• 4229 Citations
  • 25 h-Index
1991 …2017
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1991 2017

2017
13 Citations (Scopus)

When the lyon(Ized chromosome) roars: Ongoing expression from an inactive X chromosome

Carrel, L. & Brown, C. J., Nov 5 2017, In : Philosophical Transactions of the Royal Society B: Biological Sciences. 372, 1733, 20160355.

Research output: Contribution to journalReview article

X Chromosome Inactivation
X Chromosome
X chromosome
Chromosomes
inactivation
2016
1 Citation (Scopus)
X Chromosome Inactivation
Factor VIII
Hemophilia A
2014
4 Citations (Scopus)

Computational and statistical analyses of insertional polymorphic endogenous retroviruses in a non-model organism

Bao, L., Elleder, D., Malhotra, R., DeGiorgio, M., Maravegias, T., Horvath, L., Carrel, L., Gillin, C., Hron, T., Fábryová, H., Hunter, D. R. & Poss, M., Jan 1 2014, In : Computation. 2, 4, p. 221-245 25 p.

Research output: Contribution to journalArticle

Genome
Genes
Functional Genomics
Uncertainty
Descent
2013
21 Citations (Scopus)

Deletion of an X-Inactivation Boundary Disrupts Adjacent Gene Silencing

Horvath, L. M., Li, N. & Carrel, L., Nov 1 2013, In : PLoS genetics. 9, 11, e1003952.

Research output: Contribution to journalArticle

X Chromosome Inactivation
Gene Silencing
gene silencing
X chromosome
chromosome
2012
31 Citations (Scopus)

X-chromosome inactivation in Rett syndrome human induced pluripotent stem cells

Cheung, A. Y. L., Horvath, L. M., Carrel, L. & Ellis, J., Oct 3 2012, In : Frontiers in Psychiatry. 3, MAR, 24.

Research output: Contribution to journalReview article

Rett Syndrome
Induced Pluripotent Stem Cells
X Chromosome Inactivation
Methyl-CpG-Binding Protein 2
Mosaicism
2011
19 Citations (Scopus)

Clustered transcripts that escape X inactivation at mouse XqD

Lopes, A. M., Arnold-Croop, S. E., Amorim, A. & Carrel, L., Oct 1 2011, In : Mammalian Genome. 22, 9-10, p. 572-582 11 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X-Linked Genes
Genes
Chromosomes, Human, X
CpG Islands
158 Citations (Scopus)

Genes that escape from X inactivation

Berletch, J. B., Yang, F., Xu, J., Carrel, L. & Disteche, C. M., Aug 1 2011, In : Human genetics. 130, 2, p. 237-245 9 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
Genes
Alleles
Phenotype
Gene Expression
174 Citations (Scopus)

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

Cheung, A. Y. L., Horvath, L. M., Grafodatskaya, D., Pasceri, P., Weksberg, R., Hotta, A., Carrel, L. & Ellis, J., Jun 1 2011, In : Human molecular genetics. 20, 11, p. 2103-2115 13 p., ddr093.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
Rett Syndrome
X Chromosome Inactivation
Hip
Neurons
2010
23 Citations (Scopus)

Strong purifying selection at genes escaping X chromosome inactivation

Park, C., Carrel, L. & Makova, K. D., Nov 1 2010, In : Molecular biology and evolution. 27, 11, p. 2446-2450 5 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X chromosome
chromosome
inactivation
gene
2009
45 Citations (Scopus)

Dosage compensation and gene expression on the mammalian X chromosome: One plus one does not always equal two

Prothero, K. E., Stahl, J. M. & Carrel, L., Jul 1 2009, In : Chromosome Research. 17, 5, p. 637-648 12 p.

Research output: Contribution to journalReview article

Mammalian Chromosomes
X Chromosome
Gene Expression
X Chromosome Inactivation
Sex Chromosomes
1 Citation (Scopus)

Foreword: Coping with sex chromosome imbalance

Heard, E. & Carrel, L., Jul 1 2009, In : Chromosome Research. 17, 5, p. 579-583 5 p.

Research output: Contribution to journalEditorial

Sex Chromosome Aberrations
Sex Chromosomes
2008
59 Citations (Scopus)
X Chromosome Inactivation
Transgenes
X Chromosome
Genes
Chromosomes
2006
64 Citations (Scopus)

Genomic environment predicts expression patterns on the human inactive X chromosome

Carrel, L., Park, C., Tyekucheva, S., Dunn, J., Chiaromonte, F. & Makova, K. D., Oct 10 2006, In : PLoS genetics. 2, 9, p. 1477-1486 10 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
X chromosome
chromosome
genomics
inactivation
10 Citations (Scopus)

"X"-rated chromosomal rendezvous

Carrel, L., Feb 24 2006, In : Science. 311, 5764, p. 1107-1109 3 p.

Research output: Contribution to journalReview article

X Chromosome
Gene Dosage
Mammals
2005
688 Citations (Scopus)

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., Prankish, A., Lovell, F. L., Howe, K. L., Ashurst, J. L., Fulton, R. S., Sudbrak, R., Wen, G., Jones, M. C., Hurles, M. E., Andrews, T. D. & 262 others, Scott, C. E., Searle, S., Ramser, J., Whittaker, A., Deadman, R., Carter, N. P., Hunt, S. E., Chen, R., Cree, A., Gunaratne, P., Havlak, P., Hodgson, A., Metzker, M. L., Richards, S., Scott, G., Steffen, D., Sodergren, E., Wheeler, D. A., Worley, K. C., Alnscough, R., Ambrose, K. D., Ansari-Lari, M. A., Aradhya, S., Ashwell, R. I. S., Babbage, A. K., Bagguley, C. L., Ballabio, A., Banerjee, R., Barker, G. E., Barlow, K. F., Barrett, I. P., Bates, K. N., Beare, D. M., Beasley, H., Beasley, O., Beck, A., Bethel, G., Blechschmidt, K., Brady, N., Bray-Allen, S., Bridgeman, A. M., Brown, A. J., Brown, M. J., Bonnin, D., Bruford, E. A., Buhay, C., Burch, P., Burford, D., Burgess, J., Burrill, W., Burton, J., Bye, J. M., Carder, C., Carrel, L., Chako, J., Chapman, J. C., Chavez, D., Chen, E., Chen, G., Chen, Y., Chen, Z., Chinault, C., Ciccodicola, A., Clark, S. Y., Clarke, G., Clee, C. M., Clegg, S., Clerc-Blankenburg, K., Clifford, K., Cobley, V., Cole, C. G., Conquer, J. S., Corby, N., Connor, R. E., David, R., Davies, J., Davis, C., Davis, J., Delgado, O., DeShazo, D., Dhami, P., Ding, Y., Dinh, H., Dodsworth, S., Draper, H., Dugan-Rocha, S., Dunham, A., Dunn, M., Durbin, K. J., Dutta, I., Eades, T., Ellwood, M., Emery-Cohen, A., Errington, H., Evans, K. L., Faulkner, L., Francis, F., Frankland, J., Fraser, A. E., Galgoczy, P., Gilbert, J., Gill, R., Glöckner, G., Gregory, S. G., Gribble, S., Griffiths, C., Grocock, R., Gu, Y., Gwilliam, R., Hamilton, C., Hart, E. A., Hawes, A., Heath, P. D., Heitmann, K., Hennig, S., Hernandez, J., Hinzmann, B., Ho, S., Hoffs, M., Howden, P. J., Huckle, E. J., Hume, J., Hunt, P. J., Hunt, A. R., Isherwood, J., Jacob, L., Johnson, D., Jones, S., De Jong, P. J., Joseph, S. S., Keenan, S., Kelly, S., Kershaw, J. K., Khan, Z., Kloschis, P., Klages, S., Knights, A. J., Kosiura, A., Kovar-Smith, C., Laird, G. K., Langford, C., Lawlor, S., Leversha, M., Lewis, L., Liu, W., Lloyd, C., Lloyd, D. M., Loulseged, H., Loveland, J. E., Lovell, J. D., Lozado, R., Lu, J., Lyne, R., Ma, J., Maheshwari, M., Matthews, L. H., McDowall, J., McLaren, S., McMurray, A., Meidl, P., Meitinger, T., Milne, S., Miner, G., Mistry, S. L., Morgan, M., Morris, S., Müller, I., Mullikin, J. C., Nguyen, N., Nordsiek, G., Nyakatura, G., O'Dell, C. N., Okwuonu, G., Palmer, S., Pandian, R., Parker, D., Parrish, J., Pasternak, S., Patel, D., Pearce, A. V., Pearson, D. M., Pelan, S. E., Perez, L., Porter, K. M., Ramsey, Y., Reichwald, K., Rhodes, S., Ridler, K. A., Schlessinger, D., Schueler, M. G., Sehra, H. K., Shaw-Smith, C., Shen, H., Sheridan, E. M., Shownkeen, R., Skuce, C. D., Smith, M. L., Sotheran, E. C., Steingruber, H. E., Steward, C. A., Storey, R., Swann, R. M., Swarbreck, D., Tabor, P. E., Taudien, S., Taylor, T., Teague, B., Thomas, K., Thorpe, A., Timms, K., Tracey, A., Trevanion, S., Tromans, A. C., D'Urso, M., Verduzco, D., Villasana, D., Waldron, L., Wall, M., Wang, Q., Warren, J., Warry, G. L., Wei, X., West, A., Whitehead, S. L., Whiteley, M. N., Wilkinson, J. E., Willey, D. L., Williams, G., Williams, L., Williamson, A., Williamson, H., Wilming, L., Woodmansey, R. L., Wray, P. W., Yen, J., Zhang, J., Zhou, J., Zoghbi, H., Zorilla, S., Buck, D., Reinhardt, R., Poustka, A., Rosenthal, A., Lehrach, H., Meindl, A., Minx, P. J., Hillier, L. D. W., Willard, H. F., Wilson, R. K., Waterston, R. H., Rice, C. M., Vaudin, M., Coulson, A., Nelson, D. L., Weinstock, G., Sulston, J. E., Durbin, R., Hubbard, T., Gibbs, R. A., Beck, S., Rogers, J. & Bentley, D. R., Mar 17 2005, In : Nature. 434, 7031, p. 325-337 13 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
X Chromosome
Sex Chromosomes
Mammalian Chromosomes
X Chromosome Inactivation
1182 Citations (Scopus)

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Carrel, L. & Willard, H. F., Mar 17 2005, In : Nature. 434, 7031, p. 400-404 5 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X-Linked Genes
X Chromosome
Gene Expression
Gene Silencing
2004

Chromosome chain makes a link

Carrel, L., Dec 16 2004, In : Nature. 432, 7019, p. 817-818 2 p.

Research output: Contribution to journalShort survey

Platypus
Sex Chromosomes
Y Chromosome
Spermatozoa
Chromosomes
2002
37 Citations (Scopus)

An adjacent pair of human NUDT genes on chromosome X are preferentially expressed in testis and encode two new isoforms of diphosphoinositol polyphosphate phosphohydrolase

Hidaka, K., Caffrey, J. J., Hua, L., Zhang, T., Falck, J. R., Nickel, G. C., Carrel, L., Barnes, L. D. & Shears, S. B., Sep 6 2002, In : Journal of Biological Chemistry. 277, 36, p. 32730-32738 9 p.

Research output: Contribution to journalArticle

Polyphosphates
X-Linked Genes
Chromosomes
Testis
Protein Isoforms
101 Citations (Scopus)

An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells

Hall, L. L., Byron, M., Sakai, K., Carrel, L., Willard, H. F. & Lawrence, J. B., Jun 25 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 13, p. 8677-8682 6 p.

Research output: Contribution to journalArticle

Chromosomes
RNA
Cell Line
Chromatin Assembly and Disassembly
Fibrosarcoma
2001
39 Citations (Scopus)

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda

Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K. & Gecz, J., Jan 1 2001, In : American Journal of Human Genetics. 68, 6, p. 1398-1407 10 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
RNA Splicing
Mutation
Genes
RNA Splice Sites
9 Citations (Scopus)

Making sense (and antisense) of the X inactivation center

Willard, H. F. & Carrel, L., Aug 28 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 18, p. 10025-10027 3 p.

Research output: Contribution to journalComment/debate

Antisense DNA
X Chromosome Inactivation
Untranslated RNA
Genetic Models
Knockout Mice
2000
16 Citations (Scopus)

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome

Wolff, D. J., Schwartz, S. & Carrel, L., Jan 1 2000, In : Genetics in Medicine. 2, 2, p. 136-141 6 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Phenotype
Intellectual Disability
X-Linked Genes
295 Citations (Scopus)

Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis

Bailey, J. A., Carrel, L., Chakravarti, A. & Eichler, E. E., Jun 6 2000, In : Proceedings of the National Academy of Sciences of the United States of America. 97, 12, p. 6634-6639 6 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Long Interspersed Nucleotide Elements
Viverridae
Chromosomes
1999
284 Citations (Scopus)

A first-generation X-inactivation profile of the human X chromosome

Carrel, L., Cottle, A. A., Goglin, K. C. & Willard, H. F., Dec 7 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 25, p. 14440-14444 5 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
X Chromosome Inactivation
X-Linked Genes
X Chromosome
Epigenomics
77 Citations (Scopus)

Germ cell development in the XXY mouse: Evidence that X chromosome reactivation is independent of sexual differentiation

Mroz, K., Carrel, L. & Hunt, P. A., Mar 1 1999, In : Developmental biology. 207, 1, p. 229-238 10 p.

Research output: Contribution to journalArticle

Sex Differentiation
X Chromosome
Germ Cells
Testis
Ovary
110 Citations (Scopus)
X Chromosome Inactivation
X-Linked Genes
X Chromosome
Gene Expression
Cell Line
1998
13 Citations (Scopus)

Counting on Xist

Carrel, L. & Willard, H. F., Jul 15 1998, In : Nature Genetics. 19, 3, p. 211-212 2 p.

Research output: Contribution to journalShort survey

Untranslated RNA
Genetic Models
Gene Deletion
Transcription Factors
58 Citations (Scopus)

The mouse Mid1 gene: Implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region

Dal Zotto, L., Quaderi, N. A., Elliott, R., Lingerfelter, P. A., Carrel, L., Valsecchi, V., Montini, E., Yen, C. H., Chapman, V., Kalcheva, I., Arrigo, G., Zuffardi, O., Thomas, S., Willard, H. F., Ballabio, A., Disteche, C. M. & Rugarli, E. I., Mar 1 1998, In : Human Molecular Genetics. 7, 3, p. 489-499 11 p.

Research output: Contribution to journalArticle

Genes
Chromosomes, Human, X
Urogenital System
X Chromosome Inactivation
X-Linked Genes
144 Citations (Scopus)

The UTX gene escapes X inactivation in mice and humans

Greenfield, A., Carrel, L., Pennisi, D., Philippe, C., Quaderi, N., Siggers, P., Steiner, K., Tam, P. P. L., Monaco, A. P., Willard, H. F. & Koopman, P., Apr 1 1998, In : Human molecular genetics. 7, 4, p. 737-742 6 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Genes
Y-Linked Genes
Proteins
1997
90 Citations (Scopus)

Expression of genes from the human active and inactive X chromosomes

Brown, C. J., Carrel, L. & Willard, H. F., Jan 1 1997, In : American Journal of Human Genetics. 60, 6, p. 1333-1343 11 p.

Research output: Contribution to journalArticle

X Chromosome
Gene Expression
X-Linked Genes
Hybrid Cells
Gene Silencing
1996
68 Citations (Scopus)

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1

Carrel, L. & Willard, H. F., Jul 12 1996, In : American Journal of Medical Genetics. 64, 1, p. 27-30 4 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Methylation
Alleles
Chromosomes, Human, X
20 Citations (Scopus)

A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status

Coleman, M. P., Ambrose, H. J., Carrel, L., Németh, A. H., Willard, H. F. & Davies, K. E., Jan 1 1996, In : Genomics. 31, 1, p. 135-138 4 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
Complementary DNA
Genes
Chromosomes, Human, X
X-Linked Genes
49 Citations (Scopus)

Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene

Carrel, L., Hunt, P. A. & Willard, H. F., Sep 1 1996, In : Human molecular genetics. 5, 9, p. 1361-1366 6 p.

Research output: Contribution to journalArticle

X Chromosome
X Chromosome Inactivation
Genes
Alleles
Cell Lineage
50 Citations (Scopus)

X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse

Carrel, L., Clemson, C. M., Dunn, J. M., Miller, A. P., Hunt, P. A., Lawrence, J. B. & Willard, H. F., Mar 1 1996, In : Human molecular genetics. 5, 3, p. 391-401 11 p.

Research output: Contribution to journalArticle

Ubiquitin-Activating Enzymes
X Chromosome Inactivation
X Chromosome
DNA Methylation
Chromosomes, Human, X
1995
32 Citations (Scopus)

The DXS423E gene in XP11.21 escapes X chromosome inactivation

Brown, C. J., Miller, A. P., Carrel, L., Rupert, J. L., Davies, K. E. & Willard, H. F., Feb 1 1995, In : Human molecular genetics. 4, 2, p. 251-255 5 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Genes
Hybrid Cells
9 Citations (Scopus)

The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation

Sultana, R., Adler, D. A., Edelhoff, S., Carrel, L., Lee, K. H., Chapman, V. C., Willard, H. F. & Disteche, C. M., Feb 1 1995, In : Human Molecular Genetics. 4, 2, p. 257-263 7 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X Chromosome
Genes
In Situ Hybridization
X-Linked Genes
1994
91 Citations (Scopus)

A novel transmembrane transporter encoded by the XPCT gene in xq13.2

Lafrenière, R. G., Carrel, L. & Willard, H. F., Jul 1 1994, In : Human Molecular Genetics. 3, 7, p. 1133-1139 7 p.

Research output: Contribution to journalArticle

X Chromosome Inactivation
X-Linked Genes
Genes
Proteins
Proline
1993
23 Citations (Scopus)

Duplicated zinc finger protein genes on the proximal short arm of the human x chromosome: Isolation, characterization and x-inactivation studies

Grelg, G. M., Sharp, C. B., Carrel, L. & Willard, H. F., Oct 1 1993, In : Human Molecular Genetics. 2, 10, p. 1611-1618 8 p.

Research output: Contribution to journalArticle

Zinc Fingers
Human Chromosomes
Genes
Proteins
Mammals
41 Citations (Scopus)

Epigenetic and chromosomal control of gene expression: Molecular and genetic analysis of X chromosome inactivation

Willard, H. F., Brown, C. J., Carrel, L., Hendrich, B. & Miller, A. P., Jan 1 1993, In : Cold Spring Harbor Symposia on Quantitative Biology. 58, p. 315-322 8 p.

Research output: Contribution to journalArticle

X chromosome
epigenetics
genetic techniques and protocols
inactivation
gene expression
1991
80 Citations (Scopus)

Physical mapping of 60 DNA markers in the p21.1 → q21.3 region of the human X chromosome

Lafrenière, R. G., Brown, C. J., Powers, V. E., Carrel, L., Davies, K. E., Barker, D. F. & Willard, H. F., Jan 1 1991, In : Genomics. 11, 2, p. 352-363 12 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
X Chromosome
Genetic Markers
Chromosome Deletion
Hybrid Cells