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Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection

Scientific reports, 2024-01, Vol.14 (1), p.2003-2003, Article 2003

2024

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Clinical implementation of NIPT - technical and biological challenges

Clinical genetics, 2016-05, Vol.89 (5), p.523-530

2016

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Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

Nature genetics, 2004-10, Vol.36 (10), p.1084-1089

2004

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos

Human reproduction (Oxford), 2013-01, Vol.28 (1), p.256-264

2013

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Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

Human reproduction (Oxford), 2009-06, Vol.24 (6), p.1522-1528

2009

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Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression

mBio, 2017-05, Vol.8 (3), p.e00599-17

2017

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Recent developments in genetics and medically assisted reproduction: from research to clinical applications

European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.12-33

2018

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

Cytogenetic and genome research, 2011-04, Vol.133 (2-4), p.160-168

2011

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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

Journal of medical genetics, 2003-08, Vol.40 (8), p.e93-93

2003

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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

European journal of medical genetics, 2014-09, Vol.57 (9), p.487-493

2014

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What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

Human reproduction (Oxford), 2009-11, Vol.24 (11), p.2679-2682

2009

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Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

Dermatology (Basel), 2011-01, Vol.223 (4), p.306

2011

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Real-time PCR evaluation of cell-free DNA subjected to various storage and shipping conditions

Genetics and molecular research, 2015-10, Vol.14 (4), p.12797-12804

2015

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Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Prenatal diagnosis, 2013-12, Vol.33 (13), p.1283-1292

2013

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Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Cytogenetic and genome research, 2011-01, Vol.135 (3-4), p.251-259

2011

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Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Molecular syndromology, 2012, Vol.2 (2), p.81-87

2012

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Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

Clinical genetics, 2006-12, Vol.70 (6), p.535-537

2006

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Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

Genome research, 2013-03, Vol.23 (3), p.411

2013

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Array painting using microdissected chromosomes to map chromosomal breakpoints

Cytogenetic and genome research, 2007-02, Vol.116 (3), p.158-166

2007

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A physical map of the chromosome 12 centromere

Cytogenetic and genome research, 2003, Vol.103 (1-2), p.63-73

2003

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Recent developments in genetics and medically-assisted reproduction: from research to clinical applications

Human reproduction open, 2017-01, Vol.2017 (3), p.hox015

2017

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Benign and pathogenic copy number variation on the short arm of chromosome 4

Cytogenetic and genome research, 2008-01, Vol.123 (1-4), p.88-93

2008

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De novo interstitial tandem duplication of chromosome 20p12.1p13

American journal of medical genetics, 2003-02, Vol.117A (1), p.76-79

2003

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Genome-wide equine preimplantation genetic testing enabled by simultaneous haplotyping and copy number detection

Clinical implementation of NIPT - technical and biological challenges

Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29

Real-time PCR evaluation of cell-free DNA subjected to various storage and shipping conditions

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

Array painting using microdissected chromosomes to map chromosomal breakpoints

A physical map of the chromosome 12 centromere

Recent developments in genetics and medically-assisted reproduction: from research to clinical applications

Benign and pathogenic copy number variation on the short arm of chromosome 4

De novo interstitial tandem duplication of chromosome 20p12.1p13

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