List of works by Holly N Cukier

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

scientific article

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

scientific article

Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

scientific article published on March 2010

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

scientific article

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

scientific article

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

scientific article

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

scientific article published on 10 January 2014

Genetic modifiers of MeCP2 function in Drosophila

scientific article

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility

scientific article published on October 2009

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

scientific article

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

scientific article

Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.

scientific article

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

scientific article published on 14 January 2016

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

scientific article

Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2

scientific article published on 17 February 2020

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

scientific article

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

scientific article published on 15 August 2015

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