New York State Institute for Basic Research in Developmental Disabilities

Top Publications

Top Publications Authored or Co-Authored in "New York State Institute for Basic Research in Developmental Disabilities"

• Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

  American Journal of Human Genetics, Volume 77, No. 2, Year 2005, Citations 114
• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

  American Journal of Human Genetics, Volume 82, No. 2, Year 2008, Citations 15