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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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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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PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

Human reproduction (Oxford), 2011-04, Vol.26 (4), p.941-949

2011

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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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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

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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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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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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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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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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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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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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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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

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

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

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

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

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

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

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

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

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

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

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