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Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

  • First Published April 15, 2025
Method

Early embryonic mutations reveal dynamics of somatic and germ cell lineages in mice

  • First Published May 9, 2022
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • First Published March 31, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Research

Drosophila" > Shared evolutionary trajectories of three independent neo-sex chromosomes in Drosophila

  • First Published October 21, 2021
Research

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

  • First Published December 13, 2017
Research

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

  • First Published January 11, 2016
Research

Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice

  • First Published June 30, 2015
Research

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

  • First Published April 27, 2015
Resource

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

  • First Published January 3, 2014
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