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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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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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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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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530

2009

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Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Clinical genetics, 2012-06, Vol.81 (6), p.584-589

2012

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Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors

Annals of oncology, 2019-01, Vol.30 (1), p.85-95

2019

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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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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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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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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

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Single closed-tube quantitative real-time PCR assay with dual-labelled probes for improved sex determination of equine embryos

Animal (Cambridge, England), 2023-11, Vol.17 (11), p.100952, Article 100952

2023

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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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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.306-310

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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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Human mutation, 2009-09, Vol.30 (9), p.E845-E854

2009

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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.23-34

2006

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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Journal of medical genetics, 2007-12, Vol.44 (12), p.750-762

2007

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Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

Clinical genetics, 2002-11, Vol.62 (5), p.415-417

2002

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Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

European journal of medical genetics, 2012-11, Vol.55 (11), p.577-585

2012

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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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The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

Journal of medical genetics, 2008-03, Vol.45 (3), p.189-192

2008

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The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

European journal of medical genetics, 2005-07, Vol.48 (3), p.276-289

2005

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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

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

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

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors

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

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

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

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Single closed-tube quantitative real-time PCR assay with dual-labelled probes for improved sex determination of equine embryos

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

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

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

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

The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

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