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An economic method for the fluorescent labeling of PCR fragments
  • M. Schuelke
  • Biology, Medicine
  • Nature Biotechnology
  • 1 February 2000
A poor man's approach to genotyping for research and high-throughput diagnostics.
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MutationTaster evaluates disease-causing potential of sequence alterations
(simple_aae) or at alterations causing complex changes in the amino acid sequence (complex_aae). To train the classifier, we generated a dataset with all available and suitable common polymorphismsExpand
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MutationTaster2: mutation prediction for the deep-sequencing age
To the Editor: The majority of the gene variants discovered by nextgeneration sequencing (NGS) projects are either intronic or synonymous. These variants are difficult to interpret because theirExpand
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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In aExpand
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Lack of myostatin results in excessive muscle growth but impaired force generation
The lack of myostatin promotes growth of skeletal muscle, and blockade of its activity has been proposed as a treatment for various muscle-wasting disorders. Here, we have examined two independentExpand
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HomozygosityMapper—an interactive approach to homozygosity mapping
TLDR
Homozygosity mapping is a common method for mapping recessive traits in consanguineous families. Expand
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Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1. Its product is involved in various cellular processes, including cytoplasmic assembly of spliceosomal smallExpand
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Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
Coenzyme Q(10) (CoQ(10)) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ(10) has been associated withExpand
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Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria.
Fast neuronal network oscillations in the gamma range (~30-90 Hz) have been implicated in complex brain functions such as sensory processing, memory formation and, perhaps, consciousness, and appearExpand
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Myostatin mutation associated with gross muscle hypertrophy in a child.
Both acquired and inherited disorders of muscle are common; thus, greater understanding of muscle growth and maintenance is important for future therapies. Myostatin down-regulates muscle growth.Expand
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