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

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

New England Journal of Medicine

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall, +30

Genetics in Medicine

Intellectual ImpairmentPsychiatryGenetic DisorderGeneticsDisability +4

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, +51

Journal of Medical Genetics

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky, +31

The American Journal of Human Genetics

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Daniel Kelberman, Sandra C. de Castro, Shuwen Huang, +14

The Journal of Clinical Endocrinology & Metabolism

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik, +15

American Journal of Medical Genetics Part A

Human GrowthCytogeneticsGeneticsOvergrowth SyndromeEducation +16

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

John Barber, Viv Maloney, Shuwen Huang, +12

European Journal of Human Genetics

Array CghGenetic DisorderGeneticsDuplication SyndromeGenomic Mechanism +5

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Heather L. Wilson, John A. Crolla, Dena Walker, +9

European Journal of Human Genetics

Developmental BiologyDevelopmental Cognitive NeuroscienceDevelopmental GeneticsGeneticsMedicine +7

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Mary Glancy, Angela Barnicoat, Rajan Vijeratnam, +8

European Journal of Human Genetics

GeneticsLanguage DevelopmentSpeech DisordersDevelopmental SpeechLearning Difficulties +14

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

John Barber, Victoria L. Hall, Viv Maloney, +10

European Journal of Human Genetics

Genetic DisorderDuplication SyndromeGeneticsPathologyGenomic Condition +5