Nancy B. Spinner

发表

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Peter N. Robinson, Jeffrey W. Pennington, Aaron J. Masino, 2014, BMC Bioinformatics.

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Zhe Zhang, Katsuhiko Shirahige, Nancy B. Spinner, 2009, PLoS biology.

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Marian Reiff, Reed E. Pyeritz, Barbara A. Bernhardt, 2012, Genetics in Medicine.

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Paul S. Meltzer, Francis S. Collins, Abdel G. Elkahloun, 1997, Nature Genetics.

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Colin C. Collins, Yu Deng, Leroy Hood, 1997, Nature Genetics.

A genomic view of mosaicism and human disease

Leslie G. Biesecker, Nancy B. Spinner, N. Spinner, 2013, Nature Reviews Genetics.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

Nancy B. Spinner, N. Spinner, J. Golden, 1997, Nature Genetics.