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First-line genomic diagnosis of mitochondrial disorders

Nature reviews. Genetics, 2018-07, Vol.19 (7), p.399

2018

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Bioinformatics, 2019-11, Vol.35 (22), p.4754-4756

2019

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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

American journal of human genetics, 2014-04, Vol.94 (4), p.618-624

2014

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in medicine, 2020-05, Vol.22 (5), p.945-953

2020

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Recommendations for designing genetic test reports to be understood by patients and non-specialists

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.885-895

2020

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

American journal of human genetics, 2014-03, Vol.94 (3), p.470-478

2014

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

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Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

JAMA ophthalmology, 2017-07, Vol.135 (7), p.749

2017

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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Genetics in medicine, 2021-03, Vol.23 (3), p.488-497

2021

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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Science translational medicine, 2016-03, Vol.8 (328), p.328ra30

2016

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Psychiatric disorders in children with 16p11.2 deletion and duplication

Translational psychiatry, 2019-01, Vol.9 (1), p.8, Article 8

2019

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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Investigative ophthalmology & visual science, 2021-05, Vol.62 (6), p.2-2

2021

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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.570-578

2019

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Ophthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.668-671.e2

2016

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Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

Diabetes (New York, N.Y.), 2006-12, Vol.55 (12), p.3366-3371

2006

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The genetics of mental retardation

Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R110-R116

2006

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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Neurology. Genetics, 2017-04, Vol.3 (2), p.e143-e143

2017

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

Human molecular genetics, 2010-04, Vol.19 (7), p.1324-1334

2010

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The psychiatric phenotypes of 1q21 distal deletion and duplication

Translational psychiatry, 2021-02, Vol.11 (1), p.105-10, Article 105

2021

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Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

Nature communications, 2015-04, Vol.6 (1), p.6904, Article 6904

2015

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

American journal of human genetics, 2005-07, Vol.77 (1), p.154-160

2005

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First-line genomic diagnosis of mitochondrial disorders

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Recommendations for designing genetic test reports to be understood by patients and non-specialists

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Psychiatric disorders in children with 16p11.2 deletion and duplication

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

The genetics of mental retardation

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

The psychiatric phenotypes of 1q21 distal deletion and duplication

Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

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