Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan, +20

Nature

BioinformaticsSporadic Autism ExomesSyndromic AutismMedicineGenetics +9

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

Tom Walsh, Jon McClellan, Shane McCarthy, +33

Science

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, +23

Nature Genetics

MedicineGeneticsCognitive DevelopmentGlobal Developmental DelayDevelopmental Psychology +4

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, +13

Nature Genetics

Neurodevelopmental DisordersGenetic DisorderExome SequencingGeneticsAutism +5

A draft human pangenome reference

Wen‐Wei Liao, Mobin Asri, Jana Ebler, +116

Nature

Great ape genetic diversity and population history

Javier Prado-Martinez, Peter H. Sudmant, Jeffrey M. Kidd, +71

Nature

BiologyGenetic DiversityPopulation HistoryCommon ChimpanzeesMolecular Ecology +13

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker, +81

New England Journal of Medicine

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong, +31

Cell

Neurodevelopmental DisordersDevelopmental BiologyAutism EarlySyndromic AutismGenetics +9

Personalized copy number and segmental duplication maps using next-generation sequencing

Can Alkan, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, +10

Nature Genetics

BiologyFunctional GenomicsNext-generation SequencingGeneticsCopy Number +8

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, +25

Nature Genetics

Developmental BiologyDevelopmental GeneticsGeneticsMedicineGenomic Mechanism +6