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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.73-19, 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.58-5, Article 58

2021

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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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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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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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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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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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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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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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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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Ulk4 Regulates Neural Stem Cell Pool

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

2016

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Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

Journal of medical genetics, 2019-11, Vol.56 (11), p.718-726

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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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 disease genomic testing in the UK and Ireland: promoting timely and equitable access

Journal of medical genetics, 2024-09, p.jmg-2024-110228

2024

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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.581-595

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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Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)

Clinical dysmorphology, 2021-07, Vol.30 (3), p.154-158

2021

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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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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

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

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

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

Recommendations for reporting results of diagnostic genomic testing

Gammaherpesvirus Lytic Gene Expression as Characterized by DNA Array

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

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

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

Ulk4 Regulates Neural Stem Cell Pool

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

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

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

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

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)

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

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