Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. - Ada Hamosh; Alan F. Scott; Joanna S. Amberger; Carol A. Bocchini; David Valle; Victor A. McKusick (Nucleic Acids Res., 2002)

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. - Ada Hamosh; Alan F. Scott; Joanna S. Amberger; Carol A. Bocchini; Victor A. McKusick (Nucleic Acids Res., 2005)

McKusick's Online Mendelian Inheritance in Man (OMIM®). - Joanna S. Amberger; Carol A. Bocchini; Alan F. Scott; Ada Hamosh (Nucleic Acids Res., 2009)

Performance assessment of copy number microarray platforms using a spike-in experiment. - Eitan Halper-Stromberg; Laurence Frelin; Ingo Ruczinski; Robert B. Scharpf; Chunfa Jie; Benilton S. Carvalho; Haiping Hao; Kurt N. Hetrick; Anne Jedlicka; Amanda Dziedzic; Kim Doheny; Alan F. Scott; et al. (Bioinform., 2011)

Fast detection of de novo copy number variants from SNP arrays for case-parent trios. - Robert B. Scharpf; Terri H. Beaty; Holger Schwender; Samuel G. Younkin; Alan F. Scott; Ingo Ruczinski (BMC Bioinform., 2012)

A multi-omic analysis of human naïve CD4+ T cells. - Christopher J. Mitchell; Derese Getnet; Min Sik Kim; Srinivas Manda Srikanth; Praveen Kumar; Tai-Chung Huang; Sneha M. Pinto; Nirujogi Raja Sekhar; Mio Iwasaki; Patrick G. Shaw; Xinyan Wu; Jun Zhong; et al. (BMC Syst. Biol., 2015)

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. - Joanna S. Amberger; Carol A. Bocchini; François Schiettecatte; Alan F. Scott; Ada Hamosh (Nucleic Acids Res., 2015)

Detection of de novo copy number deletions from targeted sequencing of trios. - Jack M. Fu; Elizabeth J. Leslie; Alan F. Scott; Jeffrey C. Murray; Mary L. Marazita; Terri H. Beaty; Robert B. Scharpf; Ingo Ruczinski (Bioinform., 2019)

OMIM.org: leveraging knowledge across phenotype-gene relationships. - Joanna S. Amberger; Carol A. Bocchini; Alan F. Scott; Ada Hamosh (Nucleic Acids Res., 2019)