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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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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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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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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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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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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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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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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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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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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

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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.411-418

2013

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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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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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66 Developmental potential of single blastomeres within individual embryos presenting bipolar or multipolar divisions

Reproduction fertility and development, 2023-12, Vol.36 (2), p.184-184

2023

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Clinical implementation of NIPT - technical and biological challenges

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

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

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

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

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

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

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

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

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

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

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

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

66 Developmental potential of single blastomeres within individual embryos presenting bipolar or multipolar divisions

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