Paper Details

Paper Title

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.

Paper Journal Title

Genome Med

Paper Citation Count

Paper Publication Year

2022

Bio Mention

DNA repair genes, MdnCNV, MdnCNV families, MdnCNV family, NSD1, PMP22, RAI1, SMARCC2, congenital abnormalities, constitutional de novo CNVs, contiguous gene duplication, dnCNV, dnCNV genomic regions, dnCNV regions, dnCNVs, dnSNV, genetic locus, genome, human, indels

Mesh Descriptor

Author Name	Affiliation
Shalini N Jhangiani	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Zeynep Coban Akdemir	Baylor College of Medicine
Zeynep Coban Akdemir	School of Public Health, The University of Texas Health Science Center at Houston
Jennifer E Posey	Baylor College of Medicine
Eoghan D Harrington
Sissel Juul
Weimin Bi	Baylor College of Medicine
Weimin Bi
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Fritz J Sedlazeck	Baylor College of Medicine
Fritz J Sedlazeck	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
Pengfei Liu	Baylor College of Medicine
Pengfei Liu

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Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

1 - 15

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