(Q35641969)

9 August 2017

title

Exome sequencing can improve diagnosis and alter patient management (English)

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9 August 2017

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26

Carrie Sougnez

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Ashleigh Schaffer

Ashleigh E Schaffer

6

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Stephanie L. Bielas

Stephanie Bielas

5

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Ghada M Abdel-Salam

Ghada H Abdel-Salam

10

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Maha Zaki

Maha S Zaki

9

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Vineet Bafna

Vineet Bafna

8

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Stacey Gabriel

28

Stacey B Gabriel

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9 August 2017

29

Joseph G Gleeson

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9 August 2017

15

Tawfeg Ben-Omran

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9 August 2017

author name string

Tracy J Dixon-Salazar

1

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9 August 2017

Jennifer L Silhavy

2

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9 August 2017

Nitin Udpa

3

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9 August 2017

Jana Schroth

4

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9 August 2017

Jesus Olvera

7

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9 August 2017

Lobna A Mansour

11

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9 August 2017

Laila Selim

12

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9 August 2017

Sawsan Abdel-Hadi

13

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9 August 2017

Naima Marzouki

14

1 reference

9 August 2017

Nouriya A Al-Saana

16

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9 August 2017

F Müjgan Sonmez

17

1 reference

9 August 2017

Figen Celep

18

1 reference

9 August 2017

Matloob Azam

19

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9 August 2017

Kiley J Hill

20

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9 August 2017

Adrienne Collazo

21

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9 August 2017

Ali G Fenstermaker

22

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9 August 2017

Gaia Novarino

23

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9 August 2017

Naiara Akizu

24

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9 August 2017

Kiran V Garimella

25

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9 August 2017

Carsten Russ

27

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9 August 2017

language of work or name

English

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publication date

1 June 2012

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Science Translational Medicine

9 August 2017

published in

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9 August 2017

volume

4

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9 August 2017

issue

138

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9 August 2017

page(s)

138ra78

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The exocyst complex in exocytosis and cell migration

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A copy number variation morbidity map of developmental delay

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Whole-genome sequencing for optimized patient management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Carrier testing for severe childhood recessive diseases by next-generation sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Exome sequencing makes medical genomics a reality

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A developmental and genetic classification for midbrain-hindbrain malformations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Exome sequencing identifies the cause of a mendelian disorder

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Copy-number variants in neurodevelopmental disorders: promises and challenges

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

HomozygosityMapper--an interactive approach to homozygosity mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

The proteome of the mouse photoreceptor sensory cilium complex

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment--United States, 2003.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Pontocerebellar hypoplasia in two siblings with dysmorphic features

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Accounting for human polymorphisms predicted to affect protein function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Spectrum of mutations in alpha-mannosidosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A framework for variation discovery and genotyping using next-generation DNA sequencing data

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A de novo paradigm for mental retardation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A second generation human haplotype map of over 3.1 million SNPs

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

A highly informative SNP linkage panel for human genetic studies.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442637

Mobile medical computing driven by the complexity of neurologic diagnosis

7 December 2018

1 reference

12 December 2020

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Individual genomes on the horizon

1 reference

12 December 2020

10.1126/SCITRANSLMED.3003544

Identifiers

DOI

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9 August 2017

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9 August 2017

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