Studies
Undiagnosed Diseases Program (UDP)
Undiagnosed Diseases Program (UDP)
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Overview
Selected Publications (7)
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
