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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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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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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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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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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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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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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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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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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)

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

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

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

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

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

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

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