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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
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- Human Molecular Genetics, 2012, v. 21, n. R1, p. R37, doi. 10.1093/hmg/dds362
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- Article
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2754, doi. 10.1002/ajmg.a.34168
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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
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- Nature Biotechnology, 2011, v. 29, n. 6, p. 512, doi. 10.1038/nbt.1852
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FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
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- Article
aCGH.Spline—an R package for aCGH dye bias normalization.
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- Bioinformatics, 2011, v. 27, n. 9, p. 1195, doi. 10.1093/bioinformatics/btr107
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- Article
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
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- Nature Medicine, 2011, v. 17, n. 4, p. 510, doi. 10.1038/nm.2312
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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
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- Human Genetics, 2009, v. 126, n. 6, p. 791, doi. 10.1007/s00439-009-0730-x
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- Article
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1423, doi. 10.1038/ejhg.2009.91
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Clinical implication of recurrent copy number alterations in hepatocellular carcinoma and putative oncogenes in recurrent gains on 1q.
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- International Journal of Cancer, 2008, v. 123, n. 12, p. 2808, doi. 10.1002/ijc.23901
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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- Human Molecular Genetics, 2008, v. 17, n. 22, p. 3446, doi. 10.1093/hmg/ddn238
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- Article
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1285, doi. 10.1038/ng.241
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- Article
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
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- Nature Genetics, 2008, v. 40, n. 1, p. 90, doi. 10.1038/ng.2007.40
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Diet and the evolution of human amylase gene copy number variation.
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- Nature Genetics, 2007, v. 39, n. 10, p. 1256, doi. 10.1038/ng2123
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Challenges and standards in integrating surveys of structural variation.
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- Nature Genetics, 2007, v. 39, p. S7, doi. 10.1038/ng2093
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Methods and strategies for analyzing copy number variation using DNA microarrays.
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- Nature Genetics, 2007, v. 39, p. S16, doi. 10.1038/ng2028
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Completing the map of human genetic variation.
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- Nature, 2007, v. 447, n. 7141, p. 161, doi. 10.1038/447161a
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Characterization of a 3;6 translocation associated with renal cell carcinoma.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 4, p. 311, doi. 10.1002/gcc.20403
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- Article
High resolution array-CGH analysis of single cells.
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- Nucleic Acids Research, 2007, v. 35, n. 3, p. e15, doi. 10.1093/nar/gkl1030
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Definition of the zebrafish genome using flow cytometry and cytogenetic mapping.
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- BMC Genomics, 2007, v. 8, p. 195, doi. 10.1186/1471-2164-8-195
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
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- Nature Genetics, 2006, v. 38, n. 9, p. 1032, doi. 10.1038/ng1858
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- Article
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
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- Human Genetics, 2006, v. 120, n. 1, p. 77, doi. 10.1007/s00439-006-0185-2
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613
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Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 145, doi. 10.1007/s00439-005-0103-z
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A high-resolution survey of deletion polymorphism in the human genome.
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- Nature Genetics, 2006, v. 38, n. 1, p. 75, doi. 10.1038/ng1697
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- Article
Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization.
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 4, p. 384, doi. 10.1002/gcc.20252
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- Article
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
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- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1205, doi. 10.1038/sj.ejhg.5201488
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The new cytogenetics: blurring the boundaries with molecular biology.
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- Nature Reviews Genetics, 2005, v. 6, n. 10, p. 782, doi. 10.1038/nrg1692
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Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma.
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- Oncogene, 2005, v. 24, n. 1, p. 118, doi. 10.1038/sj.onc.1208194
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Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11.
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- BMC Genomics, 2005, v. 6, p. 97, doi. 10.1186/1471-2164-6-97
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As normal as normal can be?
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- Nature Genetics, 2004, v. 36, n. 9, p. 931, doi. 10.1038/ng0904-931
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Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.
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- Human Molecular Genetics, 2004, v. 13, n. 9, p. 983, doi. 10.1093/hmg/ddh111
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- Article
High-resolution analysis of genomic copy number alterations in bladder cancer by microarray-based comparative genomic hybridization.
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- Oncogene, 2004, v. 23, n. 12, p. 2250, doi. 10.1038/sj.onc.1207260
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Replication timing of the human genome.
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- Human Molecular Genetics, 2004, v. 13, n. 5, p. 575, doi. 10.1093/hmg/ddh058
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Replication timing of the human genome.
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- Human Molecular Genetics, 2004, v. 13, n. 2, p. 191, doi. 10.1093/hmg/ddh016
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Applications of genomic microarrays to explore human chromosome structure and function.
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- Human Molecular Genetics, 2004, v. 13, n. 2, p. r297, doi. 10.1093/hmg/ddh230
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Applications of genomic microarrays to explore human chromosome structure and function.
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- Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R297, doi. 10.1093/hmg/ddh230
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A DNA damage checkpoint response in telomere-initiated senescence.
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- Nature, 2003, v. 426, n. 6963, p. 194, doi. 10.1038/nature02118
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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones.
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- Genes, Chromosomes & Cancer, 2003, v. 36, n. 4, p. 361, doi. 10.1002/gcc.10155
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Construction and integration of radiation-hybrid and cytogenetic maps of dog Chromosome X.
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- Mammalian Genome, 2003, v. 14, n. 3, p. 214, doi. 10.1007/s00335-002-3051-0
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- Article
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.
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- Human Genetics, 2002, v. 110, n. 3, p. 244, doi. 10.1007/s00439-002-0679-5
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- Article
CpG island libraries from human Chromosomes 18 and 22: landmarks for novel genes.
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- Mammalian Genome, 2000, v. 11, n. 5, p. 373, doi. 10.1007/s003350010071
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Expression profiling of single cells using 3 prime end amplification (TPEA) PCR.
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- Nucleic Acids Research, 1998, v. 26, n. 19, p. 4426, doi. 10.1093/nar/26.19.4426
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Cytogenetic analysis of three breast carcinoma cell lines using reverse chromosome painting.
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- Genes, Chromosomes & Cancer, 1997, v. 20, n. 2, p. 120, doi. 10.1002/(SICI)1098-2264(199710)20:2<120::AID-GCC3>3.0.CO;2-5
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Simultaneous Immunophenotyping and FISH on Fetal Cells from Maternal Blood<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1994, v. 731, n. 1, p. 73, doi. 10.1111/j.1749-6632.1994.tb55750.x
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Cytogenetic analysis by chromosome painting using dop-pcr amplified flow-sorted chromosomes.
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- Genes, Chromosomes & Cancer, 1992, v. 4, n. 3, p. 257, doi. 10.1002/gcc.2870040311
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- Article