Diane Masser‐Frye
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Congenital heart defects research
Most-Cited Works
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → Mitochondrial dysfunction in autistic patients with 15q inverted duplication(2003)152 cited
- → Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors(2011)126 cited
- → Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region(2012)121 cited
- → Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy(2018)59 cited
- → Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements(2017)52 cited
- → Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency(2019)37 cited
- → Randomized Clinical Trial ofFirst‐LineGenome Sequencing in Pediatric White Matter Disorders(2020)27 cited
- → Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling(2022)19 cited