Related references
Note: Only part of the references are listed.The NIH Undiagnosed Diseases Program Lessons Learned
William A. Gahl et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man
Tyler Mark Pierson et al.
NEUROMUSCULAR DISORDERS (2011)
NT5E Mutations and Arterial Calcifications
Cynthia St Hilaire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
Jamie K. Teer et al.
GENOME RESEARCH (2010)
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotyp-phenotype correlations
Stephanie Millecamps et al.
JOURNAL OF MEDICAL GENETICS (2010)
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations
S. T. de Bot et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella et al.
NATURE GENETICS (2010)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Highly scalable genotype phasing by entropy minimization
Alexander Gusev et al.
IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
F. Brugman et al.
NEUROLOGY (2008)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Lamin B1 duplications cause autosomal dominant leukodystrophy
Quasar S. Padiath et al.
NATURE GENETICS (2006)
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
WM Bi et al.
HUMAN GENETICS (2004)
Hint, Fhit, and GalT: Function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases
C Brenner
BIOCHEMISTRY (2002)
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
K Grohmann et al.
NATURE GENETICS (2001)
A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis
RR Allingham et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
CM De Praeter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
