Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, +32

Cell

Developmental AnomalyConfer RiskDevelopmental BiologyMendelian DisorderGenetic Disorder +10

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins, +146

Nature Genetics

Human Congenital AnomaliesDevelopmental AnomalyDevelopmental BiologyCytogeneticsGenomic Landscape +6

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Colby Chiang, Jessie C. Jacobsen, Carl Ernst, +22

Nature Genetics

ChromatinGenome InstabilityComplex ReorganizationCell DivisionCytogenetics +9

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, +32

The American Journal of Human Genetics

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

Ryan L. Collins, Harrison Brand, Claire Redin, +27

Genome biology

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Tatsiana Aneichyk, William T. Hendriks, Rachita Yadav, +42

Cell

X-linked Dystonia-parkinsonismGeneticsParkinson DiseaseTranscriptome AssemblyDegenerative Disease +6

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Michael E. Talkowski, Zehra Ordulu, Vamsee Pillalamarri, +12

New England Journal of Medicine

GeneticsDiagnosisPathologyEducationGenomics +16

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Michael E. Talkowski, Carl Ernst, Adrian Heilbut, +12

The American Journal of Human Genetics

BioinformaticsCytogeneticsClinical DiagnosticsGeneticsBalanced Chromosome Rearrangements +10

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, +9

The American Journal of Human Genetics

InfertilityAndrologyFertilityGeneticsReproductive Health +8

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

Zehra Ordulu, Tammy Kammin, Harrison Brand, +25

The American Journal of Human Genetics

ChromatinDna SequencingDnaDevelopmental BiologyNatural Sciences +11