(Q27016060)

10.1016/J.TIG.2015.07.004

Crossref

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.TIG.2015.07.004

author

James R. Lupski

series ordinal

4

0 references

Pawel Stankiewicz

series ordinal

3

object named as

Pawel Stankiewicz

1 reference

Ian M. Campbell

1

1 reference

Crossref

Chad A. Shaw

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

July 2015

1 reference

1 reference

31

1 reference

issue

7

1 reference

page(s)

382-92

1 reference

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

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1 reference

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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 March 2017

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Human genome sequencing in health and disease

21 March 2017

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 March 2017

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A small-cell lung cancer genome with complex signatures of tobacco exposure

21 March 2017

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Confined placental mosaicism

21 March 2017

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Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum

21 March 2017

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Molecular model for the transposition and replication of bacteriophage Mu and other transposable elements

21 March 2017

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21 March 2017

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Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

21 March 2017

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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

21 March 2017

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Proteus syndrome review: molecular, clinical, and pathologic features

21 March 2017

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 March 2017

1 reference

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A unifying genetic model for facioscapulohumeral muscular dystrophy

21 March 2017

1 reference

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LINE-1 elements in structural variation and disease

21 March 2017

1 reference

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

21 March 2017

1 reference

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L1 retrotransposition in human neural progenitor cells

7 April 2017

1 reference

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Comprehensive human genome amplification using multiple displacement amplification

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Cell lineage analysis in human brain using endogenous retroelements.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Molecular findings among patients referred for clinical whole-exome sequencing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic mutations in cerebral cortical malformations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mobile DNA elements in the generation of diversity and complexity in the brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mechanisms underlying mutational signatures in human cancers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Passage number is a major contributor to genomic structural variations in mouse iPSCs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mosaic copy number variation in human neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Next-generation sequencing platforms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

The genomically mosaic brain: aneuploidy and more in neural diversity and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Beyond translesion synthesis: polymerase κ fidelity as a potential determinant of microsatellite stability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Clan genomics and the complex architecture of human disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Blaschko lines and other patterns of cutaneous mosaicism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic genome variations in health and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mechanisms of trinucleotide repeat instability during human development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Detection of clinically relevant exonic copy-number changes by array CGH.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic gene mutation and human disease other than cancer: an update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Normal bias in the direction of fetal rotation depends on blastomere composition during early cleavage in the mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Clinical practice. Systolic heart failure.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Differentiation of germ cells and gametes from stem cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

The molecular anatomy of spontaneous germline mutations in human testes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Stochastic modeling of oligodendrocyte generation in cell culture: model validation with time-lapse data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mosaicism in cutaneous pigmentation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mutations induced by ultraviolet light

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Spontaneous mutations recovered as mosaics in the mouse specific-locus test

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

The mutation rate of the human mtDNA deletion mtDNA4977

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Recurrence risks for germinal mosaics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Somatic activation of AKT3 causes hemispheric developmental brain malformations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Exact sampling formulas for multi-type Galton-Watson processes.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mutation rate of normal and malignant human lymphocytes.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

The origin, migration and fine morphology of human primordial germ cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Manufactured hexaparental mice show that adults are derived from three embyronic cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Genome sequencing of normal cells reveals developmental lineages and mutational processes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Cancer initiation with epistatic interactions between driver and passenger mutations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Prenatal diagnosis of hemimegalencephaly

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Clinical and radiological findings in Pallister-Killian syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Germ cell numbers in human embryonic and fetal gonads during the first two trimesters of pregnancy: analysis of six published studies.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Chromosome instability is common in human cleavage-stage embryos.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

The influence of premeiotic clusters of mutation on indirect estimations of mutation rate.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Individual adult human neurons display aneuploidy: detection by fluorescence in situ hybridization and single neuron PCR.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Analysis of CGG variation through 642 meioses in Fragile X families.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4490042

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

28 November 2018

1 reference

12 December 2020

Somatic mosaicism in FSHD often goes undetected

1 reference

12 December 2020

CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India

1 reference

12 December 2020

Human gene expression first occurs between the four- and eight-cell stages of preimplantation development

1 reference

12 December 2020

Human intersex with chromosome mosaicism of type XY/XO. Report of a case

1 reference

12 December 2020

Digenic inheritance and Mendelian disease

1 reference

12 December 2020

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

1 reference

12 December 2020

Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

1 reference

12 December 2020

10.1016/J.TIG.2015.03.013

Identifiers

DOI

1 reference

891951

891951

1 reference

1 reference

1 reference