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Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Genome medicine, 2022-07, Vol.14 (1), p.73-73, Article 73

2022

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Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders

PloS one, 2013-04, Vol.8 (4), p.e61365

2013

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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

BMC medical genomics, 2021-02, Vol.14 (1), p.58-58, Article 58

2021

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Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

Molecular cytogenetics, 2017-04, Vol.10 (1), p.12-12, Article 12

2017

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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Journal of medical genetics, 2011-08, Vol.48 (8), p.535-539

2011

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Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Molecular cytogenetics, 2010-04, Vol.3 (1), p.9-9, Article 9

2010

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A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

PeerJ (San Francisco, CA), 2014-04, Vol.2, p.e354-e354

2014

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Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

BMC medical genetics, 2007-03, Vol.8 (1), p.9-9, Article 9

2007

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Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1916-1922

2014

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Gammaherpesvirus Lytic Gene Expression as Characterized by DNA Array

Journal of Virology, 2002-06, Vol.76 (12), p.6244-6256

2002

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Recommendations for reporting results of diagnostic genomic testing

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1011-1016

2022

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Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing

Genetics in medicine, 2022-04, Vol.24 (4), p.811-820

2022

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A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies

British journal of haematology, 2020-07, Vol.190 (1), p.119-124

2020

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Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Blood, 2019-11, Vol.134 (Supplement_1), p.2085-2085

2019

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Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Molecular cytogenetics, 2008-03, Vol.1 (1), p.2-2

2008

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Ulk4 Regulates Neural Stem Cell Pool

Stem cells (Dayton, Ohio), 2016-09, Vol.34 (9), p.2318-2331

2016

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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

American journal of human genetics, 2012-01, Vol.90 (1), p.133-141

2012

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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

European journal of endocrinology, 2020-12, Vol.183 (6), p.581

2020

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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

PLoS genetics, 2016-05, Vol.12 (5), p.e1005993

2016

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Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

Human mutation, 2015-09, Vol.36 (9), p.842-850

2015

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A hemizygous mutation in the FOXP3 gene

BMC medical genomics, 2021-02, Vol.14 (1)

2021

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Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis: Gestation related laboratory failure rate in diagnostic amniocentesis

Prenatal diagnosis, 2016-08, Vol.36 (8), p.708-713

2016

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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Journal of neurodevelopmental disorders, 2014-04, Vol.6 (1), p.9-9, Article 9

2014

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Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis

Prenatal diagnosis, 2016-08, Vol.36 (8), p.708-713

2016

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

Gammaherpesvirus Lytic Gene Expression as Characterized by DNA Array

Recommendations for reporting results of diagnostic genomic testing

Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing

A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies

Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Ulk4 Regulates Neural Stem Cell Pool

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

A hemizygous mutation in the FOXP3 gene

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis: Gestation related laboratory failure rate in diagnostic amniocentesis

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis

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