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List of works by Patricia I Bader

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

scientific article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

Identification of novel candidate disease genes from de novo exonic copy number variants.

scientific article published on 21 September 2017

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

scientific article published on 23 April 2019

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

scientific article published in October 2010

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

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