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Undiagnosed Diseases Program (UDP)

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

W. Gahl, T. Markello, C. Toro, et al. (2011). Genetics in Medicine. Cited 280 times. https://doi.org/10.1038/gim.0b013e318232a005

Detecting false‐positive signals in exome sequencing

Karin V. Fuentes Fajardo, D. Adams, C. Mason, et al. (2012). Human Mutation. Cited 161 times. https://doi.org/10.1002/humu.22033

Analysis of DNA sequence variants detected by high‐throughput sequencing

D. Adams, M. Sincan, Karin V. Fuentes Fajardo, et al. (2012). Human Mutation. Cited 36 times. https://doi.org/10.1002/humu.22035

VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

M. Sincan, Dimitre R. Simeonov, D. Adams, et al. (2012). Human Mutation. Cited 29 times. https://doi.org/10.1002/humu.22034

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

W. Gahl, C. Boerkoel, M. Boehm. (2012). Disease Models & Mechanisms. Cited 27 times. https://doi.org/10.1242/dmm.009258

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.

T. Markello, Hannah Carlson-Donohoe, M. Sincan, et al. (2012). Molecular genetics and metabolism. Cited 23 times. https://doi.org/10.1016/j.ymgme.2011.12.015

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

T. Markello, Ted Han, Hannah Carlson-Donohoe, et al. (2012). Molecular genetics and metabolism. Cited 16 times. https://doi.org/10.1016/j.ymgme.2011.12.014