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

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

(2011) Tyler Mark Pierson et al.   NEUROMUSCULAR DISORDERS

NT5EMutations and Arterial Calcifications

(2011) Cynthia St. Hilaire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

(2010) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

(2010) J. K. Teer et al.   GENOME RESEARCH

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

(2010) S. T. de Bot et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Highly Scalable Genotype Phasing by Entropy Minimization

(2008) A. Gusev et al.   IEEE-ACM Transactions on Computational Biology and Bioinformatics

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY