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PLOS GENETICS, ISSN 1553-7390, 12/2007, Volume 3, Issue 12, pp. 2572 - 2573
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 996 - 1004
Homozygosity mapping is a well‐known technique to identify runs of homozygous variants that are likely to harbor genes responsible for autosomal recessive... 
computer simulation | ALSPAC | sequence variants | genetic association analysis | gene mapping | POPULATION | DISEQUILIBRIUM | FOCAL DYSTONIA | GENOME | HOMOZYGOSITY | GENE | GENETICS & HEREDITY | MUTATIONS | MAP | ASSOCIATION | COMMON-CAUSE | Genomics | Analysis | Statistical analysis | Nucleotide sequence | Gene frequency | Genomes | Dominant traits | Gene mapping | Heterozygosity | Methods
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 822 - 835
To analyze family-based whole-genome sequence (WGS) data for complex traits, we developed a rare variant (RV) non-parametric linkage (NPL) analysis method,... 
Alzheimer disease | rare variant | nonparametric linkage analysis | Care and treatment | Usage | Genetic aspects | Nucleotide sequencing | Alzheimer's disease | DNA sequencing
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 6, pp. 869 - 878
Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern... 
SURVIVAL | CYTOARCHITECTURE | POPULATION | GJB2 | W24X MUTATION | MAP3K1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | HEALTH | Calponin | USH2A protein | Preservation | Etiology | Hair cells | Homology | Scaling | Genetic diversity | Hearing impairment | Population genetics | Multidimensional scaling | Hearing loss
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 09/2019, Volume 27, Issue 9, pp. 1456 - 1465
Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive... 
GENE-MUTATIONS | ALLELES | MYO15A | CONNEXIN-26 | BIOCHEMISTRY & MOLECULAR BIOLOGY | FREQUENCY | GENETICS & HEREDITY | PHENOTYPE | POPULATIONS | DEAFNESS | SPECTRUM | GJB6 MUTATIONS | African Americans | Deafness | Population studies | Hearing impairment | Etiology | Hearing loss
Journal Article
Bioinformatics, ISSN 1367-4803, 02/2019, Volume 35, Issue 3, pp. 529 - 531
Abstract Motivation For the design of genetic studies, it is necessary to perform power calculations. Although for Mendelian traits the power of detecting... 
LINKAGE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GUIDELINES | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 83, Issue 3, pp. 311 - 321
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4552 - 4557
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 8/2019, Volume 34, Issue 9, pp. 491 - 498
Background: Sleep deprivation commonly increases seizure frequency in patients with genetic generalized epilepsy, though it is unknown whether there is an... 
POPULATION | DIAGNOSIS | FRONTAL-LOBE EPILEPSY | AROUSAL | SOMNAMBULISM | DISORDERS | parasomnia | CLINICAL NEUROLOGY | prevalence | LIFETIME PREVALENCE | PARASOMNIAS | genetic generalized epilepsy | sleepwalking | sleep paralysis | PEDIATRICS | ASSOCIATION
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, p. 193
  Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that... 
Genotype & phenotype | Disequilibrium | Genomics | Genomes | Genetic testing | Alzheimers disease
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2/2017, Volume 100, Issue 2, pp. 371 - 371
Journal Article