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Variant detection sensitivity and biases in whole genome and exome sequencing

BMC bioinformatics, 2014-07, Vol.15 (1), p.247-247, Article 247

2014

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149

2022

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.552-559

2017

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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

European journal of medical genetics, 2014-10, Vol.57 (10), p.587-595

2014

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BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Nature genetics, 2018-03, Vol.50 (3), p.329-332

2018

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nature genetics, 2015-11, Vol.47 (11), p.1363-1369

2015

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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1822-1836

2024

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Human molecular genetics, 2014-06, Vol.23 (11), p.2888-2900

2014

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Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF

Human molecular genetics, 2013-10, Vol.22 (20), p.4180-4193

2013

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Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland

Journal of neurology, 2024-08, Vol.271 (8), p.5256-5266

2024

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Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Human mutation, 2014-08, Vol.35 (8), p.1011-1020

2014

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Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1566-1574

2017

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NAA10 polyadenylation signal variants cause syndromic microphthalmia

Journal of medical genetics, 2019-07, Vol.56 (7), p.444

2019

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Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland

Journal of neurology, 2023-03, Vol.270 (3), p.1702-1712

2023

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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

American journal of human genetics, 2014-02, Vol.94 (2), p.295-302

2014

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757

2016

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.231-238

2023

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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Human molecular genetics, 2014-05, Vol.23 (10), p.2569-2579

2014

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Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Human molecular genetics, 2013-12, Vol.22 (23), p.4857-4869

2013

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Nature genetics, 2019-07, Vol.51 (7), p.1192-1192

2019

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Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Human molecular genetics, 2012-09, Vol.21 (18), p.3969-3983

2012

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Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Nature genetics, 2018-05, Vol.50 (5), p.767-767

2018

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

HGG advances, 2024-04, Vol.5 (2), p.100273, Article 100273

2024

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-01, Vol.17 (11)

2022

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Variant detection sensitivity and biases in whole genome and exome sequencing

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

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