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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

American journal of human genetics, 2018-08, Vol.103 (2), p.288-295

2018

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Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Nature medicine, 2024-05

2024

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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Journal of medical genetics, 2021-05, Vol.58 (5), p.297

2021

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Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)

Genetics in medicine, 2022-09, Vol.24 (9), p.1867-1877

2022

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Cerebral hypomyelination associated with biallelic variants of FIG4

Human mutation, 2019-05, Vol.40 (5), p.619-630

2019

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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Human molecular genetics, 2018-02, Vol.27 (3), p.529-545

2018

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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Human mutation, 2021-05, Vol.42 (5), p.567-576

2021

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An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease

European journal of paediatric neurology, 2017-03, Vol.21 (2), p.410-413

2017

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Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

Oral diseases, 2019-01, Vol.25 (1), p.182-191

2019

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

BMC medical genetics, 2016-01, Vol.17 (1), p.1, Article 1

2016

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Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

Familial cancer, 2018-10, Vol.17 (4), p.531-537

2018

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Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis

Ultrastructural pathology, 2018-03, Vol.42 (2), p.91-96

2018

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet (British edition), 2019-02, Vol.393 (10173), p.747-757

2019

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Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

Steroids, 2011-09, Vol.76 (10), p.1057-1062

2011

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Detecting ligated fragments on oligonucleotide microarrays: optimizing chip design, array multiplex ligation-dependent probe amplification modification, and hybridization parameters

Methods in molecular biology (Clifton, N.J.), 2007, Vol.381, p.247

2007

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Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Familial cancer, 2012-09, Vol.11 (3), p.509-518

2012

Volltextzugriff (PDF)

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

American journal of human genetics, 2021-06, Vol.108 (6), p.1053-1068

2021

Volltextzugriff (PDF)

Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

Human mutation, 2019-05, Vol.40 (5), p.619-630

2019

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The Development Of Costing

Financial management (London, England), 1988-10, Vol.66 (9), p.42

Berry, Ian R

1988

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Developing a System Everyone Can Count On

Financial management (London, England), 1987-06, Vol.65 (6), p.46

Berry, Ian R

1987

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The Divergence Of Accounting Practices

Financial management (London, England), 1987-12, Vol.65 (11), p.26

1987

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Docosahexaenoic Acid and Bronchopulmonary Dysplasia in Preterm Infants

The New England journal of medicine, 2017-03, Vol.376 (13), p.1245-1255

2017

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HDL Cholesterol Efflux Capacity and Incident Cardiovascular Events

The New England journal of medicine, 2014-12, Vol.371 (25), p.2383-2393

2014

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Error-Robust Modes of the Retinal Population Code

PLoS computational biology, 2016-11, Vol.12 (11), p.e1005148-e1005148

2016

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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia

Cerebral hypomyelination associated with biallelic variants of FIG4

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

Detecting ligated fragments on oligonucleotide microarrays: optimizing chip design, array multiplex ligation-dependent probe amplification modification, and hybridization parameters

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

The Development Of Costing

Developing a System Everyone Can Count On

The Divergence Of Accounting Practices

Docosahexaenoic Acid and Bronchopulmonary Dysplasia in Preterm Infants

HDL Cholesterol Efflux Capacity and Incident Cardiovascular Events

Error-Robust Modes of the Retinal Population Code

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