Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

Molecular and clinical studies in 8 patients with Temple syndrome

(2018) G. Gillessen-Kaesbach et al.   CLINICAL GENETICS

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

(2017) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

(2017) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Detecting DNA cytosine methylation using nanopore sequencing

(2017) Jared T Simpson et al.   NATURE METHODS

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

(2016) Julia Bregand-White et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Formation of new chromatin domains determines pathogenicity of genomic duplications

(2016) Martin Franke et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

(2015) Claudia M.B. Carvalho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

(2015) Tracy A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter

(2015) Bing Xiao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

(2015) Anke Van Dijck et al.   European Journal of Medical Genetics

Chimeric transcripts resulting from complex duplications in chromosome Xq28

(2015) Luciana W. Zuccherato et al.   HUMAN GENETICS

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

(2015) Shen Gu et al.   HUMAN MUTATION

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

(2015) Christine R. Beck et al.   PLoS Genetics

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

(2014) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

(2014) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

(2014) Trilochan Sahoo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

(2013) Atsushi Fujita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

(2013) Aliya Ishmukhametova et al.   HUMAN MUTATION

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Duplications, deletions and single-nucleotide variations: the complexity of genetic arithmetic

(2012) Vincent M. Riccardi et al.   GENETICS IN MEDICINE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

(2011) C. Beneteau et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

4.3-Mb triplication of 4q32.1-q32.2: Report of a family through two generations

(2009) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Elucidation of the complex structure and origin of the human trypsinogen locus triplication

(2009) A. Chauvin et al.   HUMAN MOLECULAR GENETICS

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

(2009) G. Beunders et al.   JOURNAL OF MEDICAL GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

(2008) Isabel López-Expósito et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization

(2008) Marwan Shinawi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

(2008) Masayo Kagami et al.   NATURE GENETICS