Genomic disorders 20 years on-mechanisms for clinical manifestations (Q46300376)

21 December 2017

http://europepmc.org/abstract/MED/28950406

title

Genomic disorders 20 years on-mechanisms for clinical manifestations (English)

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21 December 2017

http://europepmc.org/abstract/MED/28950406

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

J R Lupski

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

26 September 2017

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21 December 2017

http://europepmc.org/abstract/MED/28950406

published in

Clinical Genetics

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31 May 2020

volume

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

439-449

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THE CHROMOSOME NUMBER OF MAN

31 May 2020

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Genomic disorders ten years on.

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Large-scale copy number polymorphism in the human genome

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Origins and functional impact of copy number variation in the human genome

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Dosage sensitivity is a major determinant of human copy number variant pathogenicity

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Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

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alpha-Synuclein locus triplication causes Parkinson's disease

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Mechanisms underlying structural variant formation in genomic disorders

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Recent segmental duplications in the human genome

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Structural variation in the human genome and its role in disease

21 January 2018

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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

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Duplication hotspots, rare genomic disorders, and common disease

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PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

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Absence of heterozygosity due to template switching during replicative rearrangements

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Massive genomic rearrangement acquired in a single catastrophic event during cancer development

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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

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Analysis of protein-coding genetic variation in 60,706 humans

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

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Mutations in RAI1 associated with Smith-Magenis syndrome

21 January 2018

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Dosage sensitivity shapes the evolution of copy-number varied regions.

21 January 2018

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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

21 January 2018

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

21 January 2018

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

21 January 2018

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The molecular basis of genetic dominance

21 January 2018

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Dosage sensitivity and the evolution of gene families in yeast

21 January 2018

1 reference

PMP22 accumulation in aggresomes: implications for CMT1A pathology

21 January 2018

1 reference

Phenotype associated with APP duplication in five families

21 January 2018

1 reference

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

21 January 2018

1 reference

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

21 January 2018

1 reference

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

21 January 2018

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

21 January 2018

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

21 January 2018

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

21 January 2018

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Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

21 January 2018

1 reference

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

21 January 2018

1 reference

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

21 January 2018

1 reference

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

21 January 2018

1 reference

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

21 January 2018

1 reference

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

21 January 2018

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Non-coding genetic variants in human disease

21 January 2018

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Identification of drug modulators targeting gene-dosage disease CMT1A.

21 January 2018

1 reference

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

21 January 2018

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Curcumin facilitates a transitory cellular stress response in Trembler-J mice

21 January 2018

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Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

21 January 2018

1 reference

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

21 January 2018

1 reference

Molecular genetics of inherited variation in human color vision

21 January 2018

1 reference

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

21 January 2018

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The landscape and therapeutic relevance of cancer-associated transcript fusions.

21 January 2018

1 reference

Splitting pairs: the diverging fates of duplicated genes

21 January 2018

1 reference

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

21 January 2018

1 reference

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

21 January 2018

1 reference

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

21 January 2018

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Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

21 January 2018

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Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells

21 January 2018

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Emerging therapies and challenges in spinal muscular atrophy

21 January 2018

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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

21 January 2018

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Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects

21 January 2018

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

21 January 2018

1 reference

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

21 January 2018

1 reference

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

21 January 2018

1 reference

TBX6 null variants and a common hypomorphic allele in congenital scoliosis

21 January 2018

1 reference

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

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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

21 January 2018

1 reference

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

21 January 2018

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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

21 January 2018

1 reference

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

21 January 2018

1 reference

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

21 January 2018

1 reference

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

21 January 2018

1 reference

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

21 January 2018

1 reference

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

21 January 2018

1 reference

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

21 January 2018

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

21 January 2018

1 reference

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

21 January 2018

1 reference

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

21 January 2018

1 reference

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

21 January 2018

1 reference

Chimeric transcripts resulting from complex duplications in chromosome Xq28

21 January 2018

1 reference

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet

21 January 2018

1 reference

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

21 January 2018

1 reference

A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.13146

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28950406%20AND%20SRC:MED&resulttype=core&format=json