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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Nature genetics, 2019-11, Vol.51 (11), p.1560-1565

2019

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

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A clinical scoring system for congenital contractural arachnodactyly

Genetics in medicine, 2020-01, Vol.22 (1), p.124-131

2020

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Short interspersed element (SINE) depletion and long interspersed element (LINE) abundance are not features universally required for imprinting

PloS one, 2011-04, Vol.6 (4), p.e18953-e18953

2011

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Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

Prenatal diagnosis, 2022-11, Vol.42 (12), p.1481-1483

2022

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Lancet neurology, 2022-03, Vol.21 (3), p.234-245

2022

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

American journal of human genetics, 2021-06, Vol.108 (6), p.1138-1150

2021

Volltextzugriff (PDF)

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Scientific reports, 2021-02, Vol.11 (1), p.3962-13, Article 3962

2021

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600

2021

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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Nature cancer, 2021-06, Vol.2 (6), p.643

2021

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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25

2021

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2869-2884

2023

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

European journal of medical genetics, 2017-02, Vol.60 (2), p.130-135

2017

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Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Genome research, 2020-03, Vol.30 (3), p.415

2020

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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Molecular genetics and metabolism, 2021-04, Vol.132, p.S99

2021

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eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Molecular genetics and metabolism, 2021-04, Vol.132, p.S99-S99

2021

Volltextzugriff (PDF)

Short Interspersed Element Abundance Are Not Features Universally Required for Imprinting

PloS one, 2011-04, Vol.6 (4), p.e18953

2011

Volltextzugriff (PDF)

Short Interspersed Element

PloS one, 2011-04, Vol.6 (4), p.e18953

2011

Volltextzugriff (PDF)

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051

2020

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Same-Sex Couples Before National, Supranational and International Jurisdictions

2014, 2013

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A clinical scoring system for congenital contractural arachnodactyly

Short interspersed element (SINE) depletion and long interspersed element (LINE) abundance are not features universally required for imprinting

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Short Interspersed Element Abundance Are Not Features Universally Required for Imprinting

Short Interspersed Element

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

Same-Sex Couples Before National, Supranational and International Jurisdictions

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