(Q38805680)

6 September 2017

title

Discovery of mutations for Mendelian disorders (English)

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6 September 2017

1

Fowzan S Alkuraya

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6 September 2017

publication date

11 April 2016

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6 September 2017

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6 September 2017

volume

135

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6 September 2017

issue

6

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6 September 2017

page(s)

615-623

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SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.

6 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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/10.1007%2FS00439-016-1664-8

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mutations in LRPAP1 are associated with severe myopia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Human knockout research: new horizons and opportunities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mendelian disorders deserve more attention

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mendelian disorders and multifactorial traits: the big divide or one for all?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Human monogenic disorders - a source of novel drug targets

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Gene targeting of the cysteine peptidase cathepsin H impairs lung surfactant in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Uncovering the roles of rare variants in common disease through whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

The mousetrap: what we can learn when the mouse model does not mimic the human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Somatic mutations in cerebral cortical malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Identification of cis-suppression of human disease mutations by comparative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Participant-driven matchmaking in the genomic era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Genetics. Genome mosaicism--one human, multiple genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Sickle cell anemia, a molecular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

The Matchmaker Exchange: a platform for rare disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Genomic analysis of primordial dwarfism reveals novel disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1664-8

A highly annotated whole-genome sequence of a Korean individual

21 January 2018

1 reference

12 December 2020

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

1 reference

12 December 2020

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

1 reference

12 December 2020

Weaver syndrome and defective cortical development: a rare association

1 reference

12 December 2020

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

1 reference

12 December 2020

Human beta-globin messenger RNA. III. Nucleotide sequences derived from complementary DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-016-1664-8

Identifiers

DOI

1 reference

Dimensions Publication ID

6 September 2017

1009799145

0 references

1 reference