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

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Cell

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, +56

Nature Genetics

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li, +31

Nature Genetics

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, +40

Nature Genetics

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt, +17

Nature Genetics

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

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Nature Genetics

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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

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini, +40

Journal of Medical Genetics

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

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PLoS Genetics

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