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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

American journal of human genetics, 2019-11, Vol.105 (5), p.921-932

2019

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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-07, Vol.22 (7), p.1133-1141

2020

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40

2021

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Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Genetics in medicine, 2020-04, Vol.22 (4), p.803-808

2020

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Recent Advances in Imprinting Disorders

Clinical genetics, 2017-01, Vol.91 (1), p.3-13

2017

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Mosaicism and uniparental disomy in prenatal diagnosis

Trends in molecular medicine, 2015-02, Vol.21 (2), p.77-87

2015

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Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

Nature genetics, 2015-09, Vol.47 (9), p.1061-1066

2015

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Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis

British journal of haematology, 2021-01, Vol.192 (1), p.220-223

2021

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Genetic origin analysis of regions of homozygosity in three cases

Zhonghua yi xue yi chuan xue za zhi, 2024-04, Vol.41 (4), p.494

2024

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Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Genetics in medicine, 2018-12, Vol.20 (12), p.1522-1527

2018

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

British journal of cancer, 2020-08, Vol.123 (4), p.619-623

2020

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The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes

Nature reviews. Cancer, 2012-12, Vol.12 (12), p.849

2012

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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498

2015

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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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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Journal of medical genetics, 2020-10, Vol.57 (10), p.683

2020

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Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.615-616

2023

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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Genetics in medicine, 2019-11, Vol.21 (11), p.2644-2649

2019

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Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics

Genetics in medicine, 2021-07, Vol.23 (7), p.1225-1233

2021

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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

Prenatal diagnosis, 2024-05, Vol.44 (5), p.586-594

2024

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Whole-chromosome arm acquired uniparental disomy in cancer development is a consequence of isochromosome formation

Neoplasia (New York, N.Y.), 2022-03, Vol.25, p.9-17

2022

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315

2016

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Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting

Scientific reports, 2024-01, Vol.14 (1), p.238-238, Article 238

2024

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Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1728-1738

2022

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JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

Blood, 2014-05, Vol.123 (20), p.3139-3151

2014

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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Recent Advances in Imprinting Disorders

Mosaicism and uniparental disomy in prenatal diagnosis

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis

Genetic origin analysis of regions of homozygosity in three cases

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

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

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics

Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes

Whole-chromosome arm acquired uniparental disomy in cancer development is a consequence of isochromosome formation

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease

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