(Q40245576)

18 September 2017

title

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort (English)

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18 September 2017

16

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18 September 2017

22

Jay Shendure

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18 September 2017

25

Fowzan S Alkuraya

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18 September 2017

1

Ranad Shaheen

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18 September 2017

Nisha Patel

2

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18 September 2017

Hanan Shamseldin

3

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18 September 2017

Fatema Alzahrani

4

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18 September 2017

Ruah Al-Yamany

5

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18 September 2017

Agaadir ALMoisheer

6

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18 September 2017

Nour Ewida

7

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18 September 2017

Shamsa Anazi

8

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18 September 2017

Maha Alnemer

9

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18 September 2017

Mohamed Elsheikh

10

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18 September 2017

Khaled Alfaleh

11

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18 September 2017

Muneera Alshammari

12

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18 September 2017

Amal Alhashem

13

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18 September 2017

Abdullah A Alangari

14

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18 September 2017

Mustafa A Salih

15

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18 September 2017

Riza M Daza

17

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18 September 2017

Niema Ibrahim

18

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18 September 2017

Salma M Wakil

19

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18 September 2017

Ahmed Alaqeel

20

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18 September 2017

Ikhlas Altowaijri

21

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18 September 2017

Amro Al-Habib

23

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18 September 2017

Eissa Faqieh

24

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18 September 2017

language of work or name

English

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publication date

3 December 2015

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18 September 2017

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18 September 2017

volume

18

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18 September 2017

issue

7

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18 September 2017

page(s)

686-695

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Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions

18 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

A genotype-first approach to defining the subtypes of a complex disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.147

Structural variation mutagenesis of the human genome: Impact on disease and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Next-generation sequencing: ready for the clinics?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Genomic analysis of primordial dwarfism reveals novel disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.147

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.147

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.147

Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with alpha-D-mannosidase deficiency. Case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

CAPS1 and CAPS2 regulate stability and recruitment of insulin granules in mouse pancreatic beta cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Genetic variation of CACNA1H in idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.147

Retinal dystrophy in 2 brothers with α-Mannosidosis

21 January 2018

1 reference

12 December 2020

Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity

1 reference

12 December 2020

Variable phenotypic expression of COG6 mutations

1 reference

12 December 2020

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2015.147

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Dimensions Publication ID

18 September 2017

1009099136

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