A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, +27

Nature

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu, +22

Cell

GeneticsPharmacogenomicsGenomicsHuman GenomeMedicine +1

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Gregory Costain, A. C. Lionel, Daniele Merico, +11

Human Molecular Genetics

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyGenomics +14

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Isabelle Cleynen, Worrawat Engchuan, Matthew S. Hestand, +121

Molecular Psychiatry

PsychiatryRisk PredictionPsychotic DisorderGeneticsGenetic Disorder +6

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Xuefang Zhao, Ryan L. Collins, Wan‐Ping Lee, +20

The American Journal of Human Genetics

Long-read SequencingDna SequencingFunctional GenomicsEngineeringNext-generation Sequencing +13

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Anne S. Bassett, Chelsea Lowther, Daniele Merico, +45

American Journal of Psychiatry

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Anthony R Isles, Andrés Ingason, Chelsea Lowther, +37

PLoS Genetics

GeneticsEducationParental OriginPsychiatric GeneticsAutism +16

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour, +29

Genetics in Medicine

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Miriam S. Reuter, Rebekah Jobling, Rajiv Chaturvedi, +18

Genetics in Medicine

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

Bita Hashemi, Anne S. Bassett, David Chitayat, +13

American Journal of Medical Genetics Part A

Further EvidenceBp1-bp2 RegionPediatric HematologyGenetic DisorderGenetics +13