Anne Chun‐Hui Tsai

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Christian P. Schaaf, Philip M. Boone, Srirangan Sampath et al. · European Journal of Human Genetics · 2012 · 118 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld et al. · American Journal of Medical Genetics Part A · 2012 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13

Anne Chun‐Hui Tsai, Tamra Gibby, Linda Beischel et al. · American Journal of Medical Genetics Part A · 2003 · 78 citations

Life Sciences, Genetics, Molecular Genetics +17