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Uniparental disomy in a population of 32,067 clinical exome trios

Genetics in medicine, 2021-06, Vol.23 (6), p.1101-1107

2021

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-09, Vol.11 (1), p.4625-4625, Article 4625

2020

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

Clinical genetics, 2019-10, Vol.96 (4), p.354-358

2019

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Human genetics, 2016-11, Vol.135 (11), p.1263-1268

2016

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Genetics in medicine, 2019-03, Vol.21 (3), p.601-607

2019

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P149: Exome sequencing vs chromosomal microarray for copy number variant detection

Genetics in Medicine Open, 2024, Vol.2, p.101046, Article 101046

2024

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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-10, Vol.11 (1), p.5022-5022, Article 5022

2020

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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3022-3028

2017

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

Human mutation, 2018-12, Vol.39 (12), p.1875-1884

2018

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Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Human mutation, 2020-02, Vol.41 (2), p.449-464

2020

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1081-1089

2019

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

American journal of human genetics, 2016-04, Vol.98 (4), p.782-788

2016

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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1845-1851

2018

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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

Journal of human genetics, 2011-12, Vol.56 (12), p.834-839

2011

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P583: Four cases of mosaic triploidy identified by trio exome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100630, Article 100630

2023

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

PloS one, 2017-11, Vol.12 (11), p.e0188610-e0188610

2017

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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

PloS one, 2010-12, Vol.5 (12), p.e15687

2010

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Diagnostic approaches to apparent homozygosity

Genetics in medicine, 2012-10, Vol.14 (10), p.877-882

2012

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Genetics in Medicine Open, 2023, Vol.1 (1), p.100500, Article 100500

2023

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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.349-357

2011

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Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.213-216

2017

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Uniparental disomy in a population of 32,067 clinical exome trios

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

P149: Exome sequencing vs chromosomal microarray for copy number variant detection

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis

P583: Four cases of mosaic triploidy identified by trio exome sequencing

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

Diagnostic approaches to apparent homozygosity

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

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