Jill A. Rosenfeld

Pacific Northwest Diabetes Research Institute

Publishes on Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research. 19 papers and 1.4k citations.

19Publications

1.4kTotal Citations

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Congenital heart defects research RNA modifications and cancer RNA Research and Splicing

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Top publicationsby citations

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal et al.|Cell|2012

Cited by 598Open Access

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant et al.|Cell|2012

Cited by 432Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry et al.|The American Journal of Human Genetics|2017

Cited by 108Open Access

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

Hiromi Hirata, Indrajit Nanda, Anne van Riesen et al.|The American Journal of Human Genetics|2013

Cited by 90Open Access

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang, Tomasz Gambin, Bo Yuan et al.|Human Genetics|2017

Cited by 63