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Mapping translocation breakpoints by next-generation sequencing

Genome Research, 2008-07, Vol.18 (7), p.1143-1149

2008

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CGHPRO -- a comprehensive data analysis tool for array CGH

BMC bioinformatics, 2005-04, Vol.6 (1), p.85-85, Article 85

2005

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Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors

BMC cancer, 2011-03, Vol.11 (1), p.102-102, Article 102

2011

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.337-342

2008

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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.291-295

2010

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Antimicrobial susceptibilities of Francisella tularensis subsp. holarctica strains isolated from humans in the Central Anatolia region of Turkey

Journal of antimicrobial chemotherapy, 2011-11, Vol.66 (11), p.2588-2592

2011

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Characterization of interstitial Xp duplications in two families by tiling path array CGH

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.197-203

2008

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A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

American journal of medical genetics. Part A, 2006-04, Vol.140 (8), p.873-877

2006

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Human molecular genetics, 2008-02, Vol.17 (3), p.458-465

2008

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Human mutation, 2007-07, Vol.28 (7), p.674-682

2007

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Human genetics, 2007-05, Vol.121 (3-4), p.501-509

2007

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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Human mutation, 2011-12, Vol.32 (12), p.1427-1435

2011

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Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.172-178

2007

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The early prediction of fatality in Crimean Congo hemorrhagic fever patients

Saudi medical journal, 2011-07, Vol.32 (7), p.742

2011

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Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.1008-1012

2010

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A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2655-2660

2009

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Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays

Nucleic acids research, 2001-04, Vol.29 (7), p.E36

2001

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Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.427-433

2006

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A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

American journal of medical genetics. Part A, 2006-04, Vol.140A (8), p.873-877

2006

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Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.333-337

2007

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X chromosome-specific cDNA arrays : identification of genes that escape from X-inactivation and other applications

Human molecular genetics, 2001, Vol.10 (1), p.77-83

2001

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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

Ophthalmic genetics, 2008-03, Vol.29 (1), p.37-40

2008

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Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

Electrophoresis, 2000-02, Vol.21 (3), p.541-544

2000

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Mapping translocation breakpoints by next-generation sequencing

CGHPRO -- a comprehensive data analysis tool for array CGH

Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors

Chromosome deletions in 13q33-34: Report of four patients and review of the literature

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

Antimicrobial susceptibilities of Francisella tularensis subsp. holarctica strains isolated from humans in the Central Anatolia region of Turkey

Characterization of interstitial Xp duplications in two families by tiling path array CGH

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

The early prediction of fatality in Crimean Congo hemorrhagic fever patients

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

X chromosome-specific cDNA arrays : identification of genes that escape from X-inactivation and other applications

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

SNP array-based homozygosity mapping reveals MCPH71 deletion in family with autosomal recessive mental retardation and mild microcephaly

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