Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Diagnostic exome sequencing id ...... with developmental anomalies.

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Diagnostic exome sequencing id ...... with developmental anomalies.

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label

Diagnostic exome sequencing id ...... with developmental anomalies.

@en

Diagnostic exome sequencing id ...... with developmental anomalies.

@nl

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Diagnostic exome sequencing id ...... with developmental anomalies.

@en

Diagnostic exome sequencing id ...... with developmental anomalies.

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P1476

Diagnostic exome sequencing id ...... t with developmental anomalies

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P2093

Honey Nagakura

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Ladonna Immken

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Sha Tang

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Wendy A Alcaraz

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Zöe Powis

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P2860

Mechanisms leading to uniparental disomy and their clinical consequences

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.

Cytogenetic contribution to uniparental disomy (UPD).

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

P304

1208-1213

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scholarly article

case report

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10.1002/CCR3.1575

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P433

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P478

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Katherine L Helbig

Samin A Sajan

P577

2018-05-08T00:00:00Z

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29988648

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haploinsufficiency

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6028413

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