Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. (Q38263926)

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

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22 February 2020

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

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22 February 2020

Elizabeth C Chao

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22 February 2020

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Kelly D Farwell

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22 February 2020

Layla Shahmirzadi

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22 February 2020

Dima El-Khechen

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22 February 2020

Zöe Powis

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22 February 2020

Brigette Tippin Davis

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22 February 2020

Ruth M Baxter

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22 February 2020

Wenqi Zeng

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22 February 2020

Cameron Mroske

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Melissa C Parra

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22 February 2020

Stephanie K Gandomi

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22 February 2020

Ira Lu

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22 February 2020

Xiang Li

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22 February 2020

Hong Lu

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22 February 2020

Hsiao-Mei Lu

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22 February 2020

David Salvador

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22 February 2020

David Ruble

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22 February 2020

Monica Lao

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22 February 2020

Soren Fischbach

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22 February 2020

Jennifer Wen

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Shela Lee

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22 February 2020

Aaron Elliott

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22 February 2020

Charles L M Dunlop

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22 February 2020

Sha Tang

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13 November 2014

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22 February 2020

Genetics in Medicine

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22 February 2020

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22 February 2020

578-586

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22 February 2020

7

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22 February 2020

https://scigraph.springernature.com/pub.10.1038/gim.2014.154

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Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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Exome sequencing: dual role as a discovery and diagnostic tool

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

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Improved exome prioritization of disease genes through cross-species phenotype comparison

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Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

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PrimerZ: streamlined primer design for promoters, exons and human SNPs

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Clinical whole-exome sequencing: are we there yet?

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De novo mutations in MLL cause Wiedemann-Steiner syndrome

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21 January 2018

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

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21 January 2018

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

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21 January 2018

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

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21 January 2018

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

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De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

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Clinical whole exome sequencing in child neurology practice.

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Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity

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Identifiers

10.1038/GIM.2014.154

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22 February 2020

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22 February 2020

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